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Mackenzie's Mission_Reproductive Carrier Screening v0.109 ISCA1 Zornitza Stark Marked gene: ISCA1 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.109 ISCA1 Zornitza Stark Gene: isca1 has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.109 ISCA1 Zornitza Stark Tag for review tag was added to gene: ISCA1.
Mackenzie's Mission_Reproductive Carrier Screening v0.109 LIG4 Santosh Varughese reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 16088910, 9823897, 10911993, 15333585, 9809069, 12023982; Phenotypes: lIG4 SYNDROME, MULTIPLE MYELOMA, RESISTANCE TO; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.109 ATRX Zornitza Stark Phenotypes for gene: ATRX were changed from Mental retardation-hypotonic facies syndrome, X-linked, 309580 (3) to ATR-X-related syndrome MONDO:0016980
Mackenzie's Mission_Reproductive Carrier Screening v0.108 IGFBP7 Crystle Lee reviewed gene: IGFBP7: Rating: RED; Mode of pathogenicity: None; Publications: 34519236, 31730227, 32429784; Phenotypes: Retinal arterial macroaneurysm with supravalvular pulmonic stenosis (MIM#614224); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.108 ALG2 Crystle Lee changed review comment from: One additional variant reported in association with CDG on top of the previous patients reported with CDG/congenital myasthenia

PMID: 33644825: R251L reported in 3 probands from 2 families with CDG (same patients in PMID: 30397276)

Association with myasthenia: Two families reported, same, likely founder variant.

Association with CDG: one individual with multisystemic disorder with ID, seizures, coloboma of the iris, hypomyelination, hepatomegaly, and coagulation abnormalities reported in PMID 12684507. Fibroblasts showed severely reduced enzymatic activity.; to: One additional variant reported in association with CDG on top of the previously reviewed patients reported with CDG/congenital myasthenia

PMID: 33644825: R251L reported in 3 probands from 2 families with CDG (same patients in PMID: 30397276)

Association with myasthenia: Two families reported, same, likely founder variant.

Association with CDG: one individual with multisystemic disorder with ID, seizures, coloboma of the iris, hypomyelination, hepatomegaly, and coagulation abnormalities reported in PMID 12684507. Fibroblasts showed severely reduced enzymatic activity.
Mackenzie's Mission_Reproductive Carrier Screening v0.108 ALG2 Crystle Lee reviewed gene: ALG2: Rating: AMBER; Mode of pathogenicity: None; Publications: 33644825, 23404334, 24461433, 12684507, 30397276; Phenotypes: Congenital disorder of glycosylation, type Ii (MIM#607906), Myasthenic syndrome, congenital, 14, with tubular aggregates (MIM#616228); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.108 TSPAN7 Crystle Lee reviewed gene: TSPAN7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mackenzie's Mission_Reproductive Carrier Screening v0.108 SGO1 Crystle Lee reviewed gene: SGO1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Chronic atrial and intestinal dysrhythmia (MIM#616201); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.108 VPS37A Crystle Lee reviewed gene: VPS37A: Rating: RED; Mode of pathogenicity: None; Publications: 22717650, 29473047; Phenotypes: Spastic paraplegia 53, autosomal recessive (MIM#614898); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.108 UQCRQ Crystle Lee reviewed gene: UQCRQ: Rating: RED; Mode of pathogenicity: None; Publications: 18439546; Phenotypes: Mitochondrial complex III deficiency, nuclear type 4 (MIM#615159); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.108 TSPAN7 Zornitza Stark Tag for review tag was added to gene: TSPAN7.
Mackenzie's Mission_Reproductive Carrier Screening v0.108 TSPAN7 Zornitza Stark reviewed gene: TSPAN7: Rating: RED; Mode of pathogenicity: None; Publications: 10449641, 12070254, 10655063, 25081361; Phenotypes: Intellectual developmental disorder, X-linked 58, MIM #300210, MONDO:0010266; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mackenzie's Mission_Reproductive Carrier Screening v0.108 NUP62 Zornitza Stark Tag for review tag was added to gene: NUP62.
Mackenzie's Mission_Reproductive Carrier Screening v0.108 NUP62 Zornitza Stark reviewed gene: NUP62: Rating: AMBER; Mode of pathogenicity: None; Publications: 16786527; Phenotypes: Striatonigral degeneration, infantile - MIM#271930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.108 LDHB Zornitza Stark Tag for review tag was added to gene: LDHB.
Mackenzie's Mission_Reproductive Carrier Screening v0.108 LDHB Zornitza Stark Classified gene: LDHB as Green List (high evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.108 LDHB Zornitza Stark Gene: ldhb has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.107 LDHB Alison Yeung Marked gene: LDHB as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.107 LDHB Alison Yeung Gene: ldhb has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.107 LDHB Alison Yeung Phenotypes for gene: LDHB were changed from Lactate dehydrogenase-B deficiency, 614128 (3) to Lactate dehydrogenase-B deficiency, MIM# 614128
Mackenzie's Mission_Reproductive Carrier Screening v0.106 LDHB Alison Yeung Publications for gene: LDHB were set to
Mackenzie's Mission_Reproductive Carrier Screening v0.105 LDHB Alison Yeung Classified gene: LDHB as Red List (low evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.105 LDHB Alison Yeung Gene: ldhb has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.104 LDHB Alison Yeung reviewed gene: LDHB: Rating: RED; Mode of pathogenicity: None; Publications: 6383647; Phenotypes: Lactate dehydrogenase-B deficiency, MIM# 614128; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.104 NDUFA11 Zornitza Stark reviewed gene: NDUFA11: Rating: RED; Mode of pathogenicity: None; Publications: 18306244, 31074871; Phenotypes: Mitochondrial complex I deficiency, nuclear type 14, MIM#618236; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.104 ACY1 Zornitza Stark gene: ACY1 was added
gene: ACY1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review
Mode of inheritance for gene: ACY1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACY1 were set to 16274666; 16465618; 17562838; 24117009
Phenotypes for gene: ACY1 were set to Aminoacylase 1 deficiency, MIM# 609924
Review for gene: ACY1 was set to GREEN
Added comment: Well-established inborn error of metabolism (see OMIM). Cases exhibit urinary excretion of specific N-acetyl amino acids and manifest heterogeneous clinical features including intellectual disability, motor delay, seizures, moderate to severe mental retardation, absent speech, growth delay, muscular hypotonia and autistic features.
Sources: Expert Review
Mackenzie's Mission_Reproductive Carrier Screening v0.103 BCAP31 Zornitza Stark gene: BCAP31 was added
gene: BCAP31 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review
Mode of inheritance for gene: BCAP31 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: BCAP31 were set to 24011989; 31330203; 33603160
Phenotypes for gene: BCAP31 were set to Deafness, dystonia, and cerebral hypomyelination, MIM# 300475
Review for gene: BCAP31 was set to GREEN
Added comment: More than 20 unrelated families reported. Clinical features include severe intellectual disability (ID), dystonia, deafness, and central hypomyelination. Female carriers are mostly asymptomatic but may present with deafness.
Sources: Expert Review
Mackenzie's Mission_Reproductive Carrier Screening v0.102 LTBP3 Zornitza Stark changed review comment from: Consider changing the listed disease association relevant to this panel.; to: Consider changing the listed disease association relevant to this panel: currently set to 'tooth agenesis'.
Mackenzie's Mission_Reproductive Carrier Screening v0.102 LTBP3 Zornitza Stark reviewed gene: LTBP3: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Dental anomalies and short stature, MIM# 601216; Mode of inheritance: None
Mackenzie's Mission_Reproductive Carrier Screening v0.102 MCM4 Zornitza Stark reviewed gene: MCM4: Rating: AMBER; Mode of pathogenicity: None; Publications: 22354167, 22354170, 22499342; Phenotypes: Immunodeficiency 54, MIM# 609981; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.102 SGO1 Zornitza Stark reviewed gene: SGO1: Rating: RED; Mode of pathogenicity: None; Publications: 25282101; Phenotypes: Chronic atrial and intestinal dysrhythmia, MIM# 616201; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.102 GK Sarah Righetti reviewed gene: GK: Rating: RED; Mode of pathogenicity: None; Publications: 8651297, 9719371; Phenotypes: Glycerol kinase deficiency, MIM# 307030; Mode of inheritance: None
Mackenzie's Mission_Reproductive Carrier Screening v0.102 SAMD9 Sarah Righetti reviewed gene: SAMD9: Rating: AMBER; Mode of pathogenicity: None; Publications: 16960814, 18094730; Phenotypes: Tumoral calcinosis, familial, normophosphatemic, MIM# 610455; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.102 FTCD Sarah Righetti reviewed gene: FTCD: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 5956503, 5897668, 4413489, 29178637; Phenotypes: Glutamate formiminotransferase deficiency MIM#229100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.102 WDR60 Zornitza Stark Tag new gene name tag was added to gene: WDR60.
Mackenzie's Mission_Reproductive Carrier Screening v0.102 WDR60 Zornitza Stark commented on gene: WDR60
Mackenzie's Mission_Reproductive Carrier Screening v0.102 WDR34 Zornitza Stark Tag new gene name tag was added to gene: WDR34.
Mackenzie's Mission_Reproductive Carrier Screening v0.102 WDR34 Zornitza Stark commented on gene: WDR34
Mackenzie's Mission_Reproductive Carrier Screening v0.102 VARS Zornitza Stark Tag new gene name tag was added to gene: VARS.
Mackenzie's Mission_Reproductive Carrier Screening v0.102 VARS Zornitza Stark commented on gene: VARS
Mackenzie's Mission_Reproductive Carrier Screening v0.102 TMEM5 Zornitza Stark Tag new gene name tag was added to gene: TMEM5.
Mackenzie's Mission_Reproductive Carrier Screening v0.102 TMEM5 Zornitza Stark commented on gene: TMEM5
Mackenzie's Mission_Reproductive Carrier Screening v0.102 RARS Zornitza Stark Tag new gene name tag was added to gene: RARS.
Mackenzie's Mission_Reproductive Carrier Screening v0.102 RARS Zornitza Stark commented on gene: RARS
Mackenzie's Mission_Reproductive Carrier Screening v0.102 QARS Zornitza Stark Tag new gene name tag was added to gene: QARS.
Mackenzie's Mission_Reproductive Carrier Screening v0.102 QARS Zornitza Stark commented on gene: QARS
Mackenzie's Mission_Reproductive Carrier Screening v0.102 PIH1D3 Zornitza Stark Tag new gene name tag was added to gene: PIH1D3.
Mackenzie's Mission_Reproductive Carrier Screening v0.102 PIH1D3 Zornitza Stark commented on gene: PIH1D3
Mackenzie's Mission_Reproductive Carrier Screening v0.102 MUT Zornitza Stark Tag new gene name tag was added to gene: MUT.
Mackenzie's Mission_Reproductive Carrier Screening v0.102 MUT Zornitza Stark commented on gene: MUT
Mackenzie's Mission_Reproductive Carrier Screening v0.102 MARS Zornitza Stark Tag new gene name tag was added to gene: MARS.
Mackenzie's Mission_Reproductive Carrier Screening v0.102 MARS Zornitza Stark commented on gene: MARS
Mackenzie's Mission_Reproductive Carrier Screening v0.102 ISPD Zornitza Stark Tag new gene name tag was added to gene: ISPD.
Mackenzie's Mission_Reproductive Carrier Screening v0.102 ISPD Zornitza Stark commented on gene: ISPD
Mackenzie's Mission_Reproductive Carrier Screening v0.102 C5orf42 Zornitza Stark Tag new gene name tag was added to gene: C5orf42.
Mackenzie's Mission_Reproductive Carrier Screening v0.102 C5orf42 Zornitza Stark commented on gene: C5orf42
Mackenzie's Mission_Reproductive Carrier Screening v0.102 C21orf2 Zornitza Stark Tag new gene name tag was added to gene: C21orf2.
Mackenzie's Mission_Reproductive Carrier Screening v0.102 C21orf2 Zornitza Stark commented on gene: C21orf2
Mackenzie's Mission_Reproductive Carrier Screening v0.102 APOPT1 Zornitza Stark commented on gene: APOPT1
Mackenzie's Mission_Reproductive Carrier Screening v0.102 APOPT1 Zornitza Stark Tag new gene name tag was added to gene: APOPT1.
Mackenzie's Mission_Reproductive Carrier Screening v0.102 SNORD118 Sarah Righetti reviewed gene: SNORD118: Rating: RED; Mode of pathogenicity: None; Publications: 32361877, 33029936; Phenotypes: Leukoencephalopathy, brain calcifications, and cysts, MIM#614561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.102 SNORD118 Sarah Righetti Deleted their review
Mackenzie's Mission_Reproductive Carrier Screening v0.102 SNORD118 Sarah Righetti reviewed gene: SNORD118: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 32361877, 33029936; Phenotypes: Leukoencephalopathy, brain calcifications, and cysts, MIM#614561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.102 UPB1 Seb Lunke Marked gene: UPB1 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.102 UPB1 Seb Lunke Gene: upb1 has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.102 UPB1 Seb Lunke Phenotypes for gene: UPB1 were changed from Beta-ureidopropionase deficiency, 613161 (3) to Beta-ureidopropionase deficiency, MIM #613161
Mackenzie's Mission_Reproductive Carrier Screening v0.101 UPB1 Seb Lunke Publications for gene: UPB1 were set to
Mackenzie's Mission_Reproductive Carrier Screening v0.100 UPB1 Seb Lunke Classified gene: UPB1 as Red List (low evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.100 UPB1 Seb Lunke Gene: upb1 has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.99 POLA1 Seb Lunke Marked gene: POLA1 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.99 POLA1 Seb Lunke Gene: pola1 has been classified as Amber List (Moderate Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.99 POLA1 Seb Lunke Phenotypes for gene: POLA1 were changed from Pigmentary disorder, reticulate, with systemic manifestations, X-linked, 301220 (3), X-linked recessive to Pigmentary disorder, reticulate, with systemic manifestations, X-linked, MIM#301220; Van Esch-O'Driscoll syndrome, MIM #301030
Mackenzie's Mission_Reproductive Carrier Screening v0.98 POLA1 Seb Lunke Classified gene: POLA1 as Amber List (moderate evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.98 POLA1 Seb Lunke Gene: pola1 has been classified as Amber List (Moderate Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.97 TBX22 Seb Lunke Marked gene: TBX22 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.97 TBX22 Seb Lunke Gene: tbx22 has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.97 TBX22 Seb Lunke Classified gene: TBX22 as Red List (low evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.97 TBX22 Seb Lunke Gene: tbx22 has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.96 MBTPS1 Seb Lunke Marked gene: MBTPS1 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.96 MBTPS1 Seb Lunke Gene: mbtps1 has been classified as Amber List (Moderate Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.96 MBTPS1 Seb Lunke Classified gene: MBTPS1 as Amber List (moderate evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.96 MBTPS1 Seb Lunke Added comment: Comment on list classification: Not quite enough for MM
Mackenzie's Mission_Reproductive Carrier Screening v0.96 MBTPS1 Seb Lunke Gene: mbtps1 has been classified as Amber List (Moderate Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.95 COL2A1 Seb Lunke Marked gene: COL2A1 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.95 COL2A1 Seb Lunke Gene: col2a1 has been classified as Amber List (Moderate Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.95 COL2A1 Seb Lunke Phenotypes for gene: COL2A1 were changed from Otospondylomegaepiphyseal dysplasia, 215150 (3) to Spondyloperipheral dysplasia, MIM #271700
Mackenzie's Mission_Reproductive Carrier Screening v0.94 COL2A1 Seb Lunke Publications for gene: COL2A1 were set to
Mackenzie's Mission_Reproductive Carrier Screening v0.93 COL2A1 Seb Lunke Mode of inheritance for gene: COL2A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.92 COL2A1 Seb Lunke Classified gene: COL2A1 as Amber List (moderate evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.92 COL2A1 Seb Lunke Gene: col2a1 has been classified as Amber List (Moderate Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.91 NYX Seb Lunke Marked gene: NYX as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.91 NYX Seb Lunke Gene: nyx has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.91 NYX Seb Lunke Phenotypes for gene: NYX were changed from Night blindness, congenital stationary (complete), 1A, X-linked, 310500 (3) to Night blindness, congenital stationary (complete), 1A, X-linked, MIM #310500
Mackenzie's Mission_Reproductive Carrier Screening v0.90 CLCN4 Seb Lunke Marked gene: CLCN4 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.90 CLCN4 Seb Lunke Gene: clcn4 has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.90 CLCN4 Seb Lunke Phenotypes for gene: CLCN4 were changed from Mental retardation, X-linked 49/15, 300114 (3), X-linked recessive to Raynaud-Claes syndrome, MIM #300114
Mackenzie's Mission_Reproductive Carrier Screening v0.89 CLCN4 Seb Lunke Publications for gene: CLCN4 were set to
Mackenzie's Mission_Reproductive Carrier Screening v0.88 CLCN4 Seb Lunke Mode of inheritance for gene: CLCN4 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mackenzie's Mission_Reproductive Carrier Screening v0.87 NEXMIF Seb Lunke Marked gene: NEXMIF as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.87 NEXMIF Seb Lunke Gene: nexmif has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.87 NEXMIF Seb Lunke Phenotypes for gene: NEXMIF were changed from Mental retardation, X-linked 98, 300912 (3) to Mental retardation, X-linked 98, MIM #300912
Mackenzie's Mission_Reproductive Carrier Screening v0.86 NEXMIF Seb Lunke Mode of inheritance for gene: NEXMIF was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mackenzie's Mission_Reproductive Carrier Screening v0.85 NHS Seb Lunke Marked gene: NHS as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.85 NHS Seb Lunke Gene: nhs has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.85 NHS Seb Lunke Mode of inheritance for gene: NHS was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mackenzie's Mission_Reproductive Carrier Screening v0.84 COL4A5 Seb Lunke Marked gene: COL4A5 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.84 COL4A5 Seb Lunke Gene: col4a5 has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.84 COL4A5 Seb Lunke Mode of inheritance for gene: COL4A5 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mackenzie's Mission_Reproductive Carrier Screening v0.83 NTNG2 Seb Lunke Marked gene: NTNG2 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.83 NTNG2 Seb Lunke Gene: ntng2 has been classified as Amber List (Moderate Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.83 NTNG2 Seb Lunke Classified gene: NTNG2 as Amber List (moderate evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.83 NTNG2 Seb Lunke Added comment: Comment on list classification: Amber for MM due to rarity
Mackenzie's Mission_Reproductive Carrier Screening v0.83 NTNG2 Seb Lunke Gene: ntng2 has been classified as Amber List (Moderate Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.82 EDA Seb Lunke Marked gene: EDA as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.82 EDA Seb Lunke Gene: eda has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.82 EDA Seb Lunke Mode of inheritance for gene: EDA was changed from BIALLELIC, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mackenzie's Mission_Reproductive Carrier Screening v0.81 MOGS Seb Lunke Marked gene: MOGS as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.81 MOGS Seb Lunke Added comment: Comment when marking as ready: Amber due to rarity
Mackenzie's Mission_Reproductive Carrier Screening v0.81 MOGS Seb Lunke Gene: mogs has been classified as Amber List (Moderate Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.81 MOGS Seb Lunke Deleted their comment
Mackenzie's Mission_Reproductive Carrier Screening v0.81 MOGS Seb Lunke Classified gene: MOGS as Amber List (moderate evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.81 MOGS Seb Lunke Gene: mogs has been classified as Amber List (Moderate Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.80 MOGS Seb Lunke Marked gene: MOGS as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.80 MOGS Seb Lunke Added comment: Comment when marking as ready: Remains red due to rarity
Mackenzie's Mission_Reproductive Carrier Screening v0.80 MOGS Seb Lunke Gene: mogs has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.80 DYNC1I2 Seb Lunke Marked gene: DYNC1I2 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.80 DYNC1I2 Seb Lunke Gene: dync1i2 has been classified as Amber List (Moderate Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.80 DYNC1I2 Seb Lunke Classified gene: DYNC1I2 as Amber List (moderate evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.80 DYNC1I2 Seb Lunke Gene: dync1i2 has been classified as Amber List (Moderate Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.79 FITM2 Seb Lunke Marked gene: FITM2 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.79 FITM2 Seb Lunke Gene: fitm2 has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.79 TMEM94 Seb Lunke Marked gene: TMEM94 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.79 TMEM94 Seb Lunke Gene: tmem94 has been classified as Amber List (Moderate Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.79 TMEM94 Seb Lunke Classified gene: TMEM94 as Amber List (moderate evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.79 TMEM94 Seb Lunke Gene: tmem94 has been classified as Amber List (Moderate Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.78 ZNF469 Seb Lunke Marked gene: ZNF469 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.78 ZNF469 Seb Lunke Gene: znf469 has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.78 ZNF469 Seb Lunke Phenotypes for gene: ZNF469 were changed from Brittle cornea syndrome 1, 229200 (3) to Brittle cornea syndrome 1, MIM #229200
Mackenzie's Mission_Reproductive Carrier Screening v0.77 ZNF469 Seb Lunke Classified gene: ZNF469 as Red List (low evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.77 ZNF469 Seb Lunke Gene: znf469 has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.76 FAM161A Seb Lunke Marked gene: FAM161A as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.76 FAM161A Seb Lunke Gene: fam161a has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.76 FAM161A Seb Lunke Phenotypes for gene: FAM161A were changed from Retinitis pigmentosa 28, 606068 (3) to Retinitis pigmentosa 28, MIM #606068
Mackenzie's Mission_Reproductive Carrier Screening v0.75 FAM161A Seb Lunke Classified gene: FAM161A as Red List (low evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.75 FAM161A Seb Lunke Gene: fam161a has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.74 IMPG2 Seb Lunke Marked gene: IMPG2 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.74 IMPG2 Seb Lunke Gene: impg2 has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.74 IMPG2 Seb Lunke Phenotypes for gene: IMPG2 were changed from Retinitis pigmentosa 56, 613581 (3) to Retinitis pigmentosa 56, MIM #613801
Mackenzie's Mission_Reproductive Carrier Screening v0.73 IMPG2 Seb Lunke Classified gene: IMPG2 as Red List (low evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.73 IMPG2 Seb Lunke Gene: impg2 has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.72 PDE6B Seb Lunke Marked gene: PDE6B as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.72 PDE6B Seb Lunke Gene: pde6b has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.72 PDE6B Seb Lunke Phenotypes for gene: PDE6B were changed from Retinitis pigmentosa-40, 613801 (3) to Retinitis pigmentosa-40, MIM #613801
Mackenzie's Mission_Reproductive Carrier Screening v0.71 PDE6B Seb Lunke Classified gene: PDE6B as Red List (low evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.71 PDE6B Seb Lunke Gene: pde6b has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.70 LRSAM1 Zornitza Stark reviewed gene: LRSAM1: Rating: RED; Mode of pathogenicity: None; Publications: 20865121, 22012984, 22781092, 27686364, 33568173, 33414056, 30996334; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2P, MIM# 614436, MONDO:0013753; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.70 HK1 Zornitza Stark reviewed gene: HK1: Rating: AMBER; Mode of pathogenicity: None; Publications: 19536174, 26822750; Phenotypes: Neuropathy, hereditary motor and sensory, Russe type , MIM#605285; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.70 PDE6B Sarah Righetti reviewed gene: PDE6B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa-40, MIM #613801; Mode of inheritance: None
Mackenzie's Mission_Reproductive Carrier Screening v0.70 IMPG2 Sarah Righetti reviewed gene: IMPG2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa 56 MIM #613801; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.70 FAM161A Sarah Righetti reviewed gene: FAM161A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa 28, MIM #606068; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.70 ZNF469 Sarah Righetti reviewed gene: ZNF469: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Brittle cornea syndrome 1, MIM #229200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.70 RPL10 Seb Lunke Marked gene: RPL10 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.70 RPL10 Seb Lunke Gene: rpl10 has been classified as Amber List (Moderate Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.70 RPL10 Seb Lunke Classified gene: RPL10 as Amber List (moderate evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.70 RPL10 Seb Lunke Added comment: Comment on list classification: Amber for MM gene list as disputed for autism and rare for ID.
Mackenzie's Mission_Reproductive Carrier Screening v0.70 RPL10 Seb Lunke Gene: rpl10 has been classified as Amber List (Moderate Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.69 RPL10 Sarah Righetti changed review comment from: 4 reports of RPL10 variants linked to autism. Connection of RPL10 with autism is queried in the literature - PMID: 23871722.

Note that there is sufficient evidence for the syndromal form of the condition - Mental retardation, X-linked, syndromic, 35, MIM #300998 (families with 2,3 and 4 affected males, evidence of segregation); to: 4 reports of RPL10 variants linked to autism. Connection of RPL10 with autism is queried in the literature - PMID: 23871722.

Note that there is sufficient evidence for the syndromal form of the condition - Mental retardation, X-linked, syndromic, 35, MIM #300998 (families with 2,3 and 4 affected males, evidence of segregation). The syndromal form is rare - a total of 10 males have been reported in the literature (PMID: 29066376).

Given the disputed link to autism, and rarity of the syndromal form of the condition, the gene has been excluded from the MM panel.
Mackenzie's Mission_Reproductive Carrier Screening v0.69 KRT8 Seb Lunke changed review comment from: Comment when marking as ready: In gnamAD as p.Gly90Cys with >700hets and 5hom.; to: Comment when marking as ready: In gnomAD as p.Gly90Cys with >700hets and 5hom.
Mackenzie's Mission_Reproductive Carrier Screening v0.69 KRT8 Seb Lunke Marked gene: KRT8 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.69 KRT8 Seb Lunke Added comment: Comment when marking as ready: In gnamAD as p.Gly90Cys with >700hets and 5hom.
Mackenzie's Mission_Reproductive Carrier Screening v0.69 KRT8 Seb Lunke Gene: krt8 has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.69 KRT8 Seb Lunke Phenotypes for gene: KRT8 were changed from Cirrhosis, cryptogenic, 215600 (3) to CIRRHOSIS, FAMILIAL, MIM #215600
Mackenzie's Mission_Reproductive Carrier Screening v0.68 KRT8 Seb Lunke Publications for gene: KRT8 were set to
Mackenzie's Mission_Reproductive Carrier Screening v0.67 KRT8 Seb Lunke Mode of inheritance for gene: KRT8 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mackenzie's Mission_Reproductive Carrier Screening v0.66 KRT8 Seb Lunke Classified gene: KRT8 as Red List (low evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.66 KRT8 Seb Lunke Gene: krt8 has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.65 ACSF3 Seb Lunke Marked gene: ACSF3 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.65 ACSF3 Seb Lunke Gene: acsf3 has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.65 ACSF3 Seb Lunke Phenotypes for gene: ACSF3 were changed from Combined malonic and methylmalonic aciduria, 614265 (3) to Combined malonic and methylmalonic aciduria, MIM#614265
Mackenzie's Mission_Reproductive Carrier Screening v0.64 ACSF3 Seb Lunke Classified gene: ACSF3 as Red List (low evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.64 ACSF3 Seb Lunke Gene: acsf3 has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.63 RPL10 Seb Lunke Phenotypes for gene: RPL10 were changed from Mental retardation, X-linked, syndromic, 35 to Mental retardation, X-linked, syndromic, 35 (MIM#300998)
Mackenzie's Mission_Reproductive Carrier Screening v0.62 RPL10 Seb Lunke Classified gene: RPL10 as Green List (high evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.62 RPL10 Seb Lunke Added comment: Comment on list classification: Remaining green due to X-linked neurodevelopment condition until further clarification.
Mackenzie's Mission_Reproductive Carrier Screening v0.62 RPL10 Seb Lunke Gene: rpl10 has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.61 RPL10 Seb Lunke Classified gene: RPL10 as Amber List (moderate evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.61 RPL10 Seb Lunke Gene: rpl10 has been classified as Amber List (Moderate Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.60 OPN1LW Seb Lunke Phenotypes for gene: OPN1LW were changed from Blue cone monochromacy, 303700 (3) to Blue cone monochromacy, MIM#303700; Colorblindness, protan, MIM#303900
Mackenzie's Mission_Reproductive Carrier Screening v0.59 OPN1LW Seb Lunke Classified gene: OPN1LW as Red List (low evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.59 OPN1LW Seb Lunke Gene: opn1lw has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.58 ABCA4 Seb Lunke Phenotypes for gene: ABCA4 were changed from Cone-rod dystrophy 3, 604116 (3) to Stargardt disease 1 MIM#248200; Retinal dystrophy, early-onset severe MIM#248200; Cone-rod dystrophy 3 MIM#604116
Mackenzie's Mission_Reproductive Carrier Screening v0.57 ABCA4 Seb Lunke Classified gene: ABCA4 as Red List (low evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.57 ABCA4 Seb Lunke Gene: abca4 has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.56 ABCC6 Seb Lunke Phenotypes for gene: ABCC6 were changed from Arterial calcification, generalized, of infancy, 2, 614473 (3) to Pseudoxanthoma elasticum MIM#264800; Arterial calcification, generalized, of infancy, 2 MIM#614473
Mackenzie's Mission_Reproductive Carrier Screening v0.55 ABCC6 Seb Lunke Classified gene: ABCC6 as Red List (low evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.55 ABCC6 Seb Lunke Gene: abcc6 has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.54 OPN1LW Sarah Righetti reviewed gene: OPN1LW: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Blue cone monochromacy, MIM#303700, Colorblindness, protan, MIM#303900; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mackenzie's Mission_Reproductive Carrier Screening v0.54 ABCA4 Sarah Righetti reviewed gene: ABCA4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Stargardt disease 1 MIM#248200, Retinal dystrophy, early-onset severe MIM#248200, Cone-rod dystrophy 3 MIM#604116; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.54 ABCC6 Sarah Righetti edited their review of gene: ABCC6: Added comment: Decision to exclude gene from MM list on 01/04/21.

The gene-phenotype relationship is not easy to predict, and GACI Type 2 is extremely rare - ~1 in 4 million births. The majority of couples we detect with pathogenic variants in ABBC6 will be at increased risk for PXE which does not meet severity criteria for inclusion.

There are also technical issues caused by 2x pseudogenes which cause mapping/variant calling issues in exons 1-9.; Changed rating: RED; Changed phenotypes: Pseudoxanthoma elasticum MIM#264800, Arterial calcification, generalized, of infancy, 2 MIM#614473
Mackenzie's Mission_Reproductive Carrier Screening v0.54 TXNL4A Zornitza Stark reviewed gene: TXNL4A: Rating: AMBER; Mode of pathogenicity: None; Publications: 25434003; Phenotypes: Burn-McKeown syndrome, MIM# 608572, Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, MONDO:0012064; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.54 ITGA3 Zornitza Stark gene: ITGA3 was added
gene: ITGA3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review
Mode of inheritance for gene: ITGA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITGA3 were set to 22512483; 25810266; 27717396; 32198874; 26854491
Phenotypes for gene: ITGA3 were set to Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748
Review for gene: ITGA3 was set to GREEN
Added comment: This is a neonatal multi-organ disorder that includes congenital interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa. The respiratory and renal features predominate, and lung involvement accounts for the commonly lethal course of the disease. More than 5 unrelated families reported.
Sources: Expert Review
Mackenzie's Mission_Reproductive Carrier Screening v0.53 Zornitza Stark removed gene:ITGA3 from the panel
Mackenzie's Mission_Reproductive Carrier Screening v0.52 ITGA3 Zornitza Stark Classified gene: ITGA3 as Green List (high evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.52 ITGA3 Zornitza Stark Gene: itga3 has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.51 ITGA3 Zornitza Stark gene: ITGA3 was added
gene: ITGA3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review
Mode of inheritance for gene: ITGA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITGA3 were set to 22512483; 25810266; 27717396; 32198874; 26854491
Phenotypes for gene: ITGA3 were set to Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748
Review for gene: ITGA3 was set to GREEN
Added comment: This is a severe neonatal multi-organ disorder that includes congenital interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa. The respiratory and renal features predominate, and lung involvement accounts for the commonly lethal course of the disease.

More than 5 unrelated families reported.
Sources: Expert Review
Mackenzie's Mission_Reproductive Carrier Screening v0.50 ACSF3 Zornitza Stark reviewed gene: ACSF3: Rating: RED; Mode of pathogenicity: None; Publications: 21841779, 30740739; Phenotypes: Combined malonic and methylmalonic aciduria MIM#614265; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.50 RPL10 Sarah Righetti reviewed gene: RPL10: Rating: AMBER; Mode of pathogenicity: None; Publications: 16940977, 21567917, 23871722; Phenotypes: {Autism, susceptibility to, X-linked 5}, MIM #300847; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.50 ACSF3 Sarah Righetti reviewed gene: ACSF3: Rating: RED; Mode of pathogenicity: None; Publications: 21841779, 2682711, 30740739; Phenotypes: Combined malonic and methylmalonic aciduria, MIM#614265; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.50 KRT8 Sarah Righetti reviewed gene: KRT8: Rating: RED; Mode of pathogenicity: None; Publications: 15235035, 11372009, 12724528; Phenotypes: CIRRHOSIS, FAMILIAL, MIM #215600; Mode of inheritance: Other
Mackenzie's Mission_Reproductive Carrier Screening v0.50 DPAGT1 Zornitza Stark reviewed gene: DPAGT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12872255, 22492991, 22304930, 31153949, 30653653, 30117111; Phenotypes: Congenital disorder of glycosylation, type Ij, MIM# 608093, DP, Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM# 614750AGT1-CDG MONDO:0011964; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.50 COG5 Zornitza Stark gene: COG5 was added
gene: COG5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review
Mode of inheritance for gene: COG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COG5 were set to 23228021; 31572517; 32174980
Phenotypes for gene: COG5 were set to Congenital disorder of glycosylation, type IIi, MIM# 613612
Review for gene: COG5 was set to GREEN
Added comment: More than 5 unrelated families reported. Intellectual disability is part of the phenotype.
Sources: Expert Review
Mackenzie's Mission_Reproductive Carrier Screening v0.49 TNFRSF13B Sarah Righetti reviewed gene: TNFRSF13B: Rating: RED; Mode of pathogenicity: None; Publications: 29114388, 22983507, 22697072, 19779048, 31681265; Phenotypes: Immunodeficiency, common variable, 2, MIM#240500; Mode of inheritance: Other
Mackenzie's Mission_Reproductive Carrier Screening v0.49 YIF1B Edwin Kirk reviewed gene: YIF1B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mackenzie's Mission_Reproductive Carrier Screening v0.49 TMEM94 Edwin Kirk reviewed gene: TMEM94: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mackenzie's Mission_Reproductive Carrier Screening v0.49 PUS7 Edwin Kirk reviewed gene: PUS7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mackenzie's Mission_Reproductive Carrier Screening v0.49 PTPN23 Edwin Kirk reviewed gene: PTPN23: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mackenzie's Mission_Reproductive Carrier Screening v0.49 FITM2 Edwin Kirk reviewed gene: FITM2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mackenzie's Mission_Reproductive Carrier Screening v0.49 ADPRHL2 Edwin Kirk changed review comment from: I agree this is a straightforward GREEN for Mackenzie's Mission. Clearly severe enough phenotype and meets evidence criteria. Only two publications (three if you count PMC5589982) but both with multiple families, consistent phenotype. Change of gene symbol important to note from pipeline point of view.; to: I agree this is a straightforward GREEN for Mackenzie's Mission. Clearly severe enough phenotype and meets evidence criteria. Only two publications (three if you count PMC5589982) but both with multiple families, consistent phenotype. Change of gene symbol important to note from pipeline point of view.

Note - I don't think I selected a rating when I entered the above, not certain if this matters.
Mackenzie's Mission_Reproductive Carrier Screening v0.49 DYNC1I2 Edwin Kirk reviewed gene: DYNC1I2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mackenzie's Mission_Reproductive Carrier Screening v0.49 ADPRHL2 Edwin Kirk commented on gene: ADPRHL2
Mackenzie's Mission_Reproductive Carrier Screening v0.49 MOGS Zornitza Stark gene: MOGS was added
gene: MOGS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review
Mode of inheritance for gene: MOGS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MOGS were set to 31925597; 30587846; 33058492
Phenotypes for gene: MOGS were set to Congenital disorder of glycosylation, type IIb, MIM# 606056
Review for gene: MOGS was set to GREEN
Added comment: Six unrelated families reported. Common features include: hypotonia, global developmental delay, feeding problems, seizures, movement disorder, hypogammaglobulinaemia, variable problems with cardiac, dysmorpholology overlapping fingers, short palpebral fissures, micrognathia, can have upsweeping hair at front.
Sources: Expert Review
Mackenzie's Mission_Reproductive Carrier Screening v0.48 EDA Sarah Righetti reviewed gene: EDA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ectodermal dysplasia 1, hypohidrotic, X-linked MIM#305100; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mackenzie's Mission_Reproductive Carrier Screening v0.48 NTNG2 Zornitza Stark gene: NTNG2 was added
gene: NTNG2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review
Mode of inheritance for gene: NTNG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NTNG2 were set to 31668703; 31692205
Phenotypes for gene: NTNG2 were set to Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, MIM# 618718
Review for gene: NTNG2 was set to GREEN
Added comment: Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia (NEDBASH) is an autosomal recessive disorder characterized by severely impaired intellectual and motor development, axial and peripheral hypotonia usually with inability to walk, and significant behavioral abnormalities consistent with autism spectrum disorder and reminiscent of Rett syndrome, such as poor communication, stereotypic or repetitive behaviours, hand-wringing, bruxism, and sleep disturbances. Other features include poor overall growth, and joint hypermobility. Rare features include seizures, dystonia, spasticity, and nonspecific brain abnormalities.

More than 8 families reported.
Sources: Expert Review
Mackenzie's Mission_Reproductive Carrier Screening v0.47 NHS Sarah Righetti reviewed gene: NHS: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mackenzie's Mission_Reproductive Carrier Screening v0.47 COL4A5 Sarah Righetti reviewed gene: COL4A5: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mackenzie's Mission_Reproductive Carrier Screening v0.47 NEXMIF Sarah Righetti reviewed gene: NEXMIF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, X-linked 98, MIM #300912; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mackenzie's Mission_Reproductive Carrier Screening v0.47 CLCN4 Sarah Righetti reviewed gene: CLCN4: Rating: GREEN; Mode of pathogenicity: None; Publications: 27550844; Phenotypes: Raynaud-Claes syndrome, MIM #300114; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mackenzie's Mission_Reproductive Carrier Screening v0.47 NYX Sarah Righetti Deleted their comment
Mackenzie's Mission_Reproductive Carrier Screening v0.47 NYX Sarah Righetti edited their review of gene: NYX: Added comment: Clinical summary: Function of rods disrupted - difficulty seeing in low light. Other vision problems including reduced acuity (20/30 to 20/200) which is considered mild-moderate visual impairment or reduced-low vision. 20/40 is Australian legal driving limit. Myopia - can range from low to high. May have nystagmus/strabismus. Color vision not affected. Non-progressive, present at birth.

Severe end of phenoypic spectrum meets MM criteria for inclusion - GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mackenzie's Mission_Reproductive Carrier Screening v0.47 NYX Sarah Righetti reviewed gene: NYX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Night blindness, congenital stationary (complete), 1A, X-linked, MIM #310500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.47 COL2A1 Sarah Righetti Deleted their comment
Mackenzie's Mission_Reproductive Carrier Screening v0.47 COL2A1 Sarah Righetti edited their review of gene: COL2A1: Added comment: Limited evidence for a recessive condition. 8 patients from 5 families, at least 2 mildly affected. Almost all literature dominant.

PMID: 31755234 (Girisha et al. 2020) six patients from 4 families, variability in phenotype.

PMID: 32896647 (Al-Sannaa et al 2020) two sibs from consang family with disproportionate short stature, ocular abnormalities, cleft palate and hearing impairment. Radiographic study showed signs of a spondyloepiphyseal dysplasia, compatible with a type 2 collagen disorder. Both siblings homozygous for c.3111+2T > C p.(Glu1 033Lysfs *5) splice site variant in the COL2A1 gene. Het parents phenotypically normal. cDNA analysis on skin fibroblasts demonstrated abberant splicing.
Created: 6 Nov 2020, 4:59 a.; Changed rating: AMBER
Mackenzie's Mission_Reproductive Carrier Screening v0.47 COL2A1 Sarah Righetti reviewed gene: COL2A1: Rating: RED; Mode of pathogenicity: None; Publications: 31755234, 32896647; Phenotypes: Spondyloperipheral dysplasia, MIM #271700; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.47 MBTPS1 Sarah Righetti gene: MBTPS1 was added
gene: MBTPS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review,Literature
Mode of inheritance for gene: MBTPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MBTPS1 were set to 32857899; 32420688; 30046013
Phenotypes for gene: MBTPS1 were set to ?Spondyloepiphyseal dysplasia, Kondo-Fu type, MIM #618392
Review for gene: MBTPS1 was set to AMBER
Added comment: Three unrelated individuals reported with bi-allelic variants in this gene and a skeletal dysplasia, one described with SRS-like features. Elevated blood lysosomal enzymes are also a feature.
Sources: Expert Review, Literature
Mackenzie's Mission_Reproductive Carrier Screening v0.47 TBX22 Sarah Righetti gene: TBX22 was added
gene: TBX22 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review
Mode of inheritance for gene: TBX22 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TBX22 were set to Cleft palate with ankyloglossia, MIM #303400
Review for gene: TBX22 was set to RED
Added comment: Treatable condition. RED on phenotypic grounds.
Sources: Expert Review
Mackenzie's Mission_Reproductive Carrier Screening v0.47 POLA1 Sarah Righetti reviewed gene: POLA1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27019227, 31006512; Phenotypes: Pigmentary disorder, reticulate, with systemic manifestations, X-linked, MIM#301220, Van Esch-O'Driscoll syndrome, MIM #301030; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mackenzie's Mission_Reproductive Carrier Screening v0.47 POLA1 Sarah Righetti Deleted their review
Mackenzie's Mission_Reproductive Carrier Screening v0.47 POLA1 Sarah Righetti changed review comment from: Immunodeficieny phenotype MIM#301220 has strong gene-disease association but is caused by a specific deep intronic variant that is not detectable by MM ES. See PMID: 27019227.

Van Esch-O'Driscoll syndrome MIM #30103, which is ID, is described in a single paper PMID 31006512. 5 families, 5 variants in 9 patients, AMBER for gene-disease association.; to: Immunodeficieny phenotype MIM#301220 has strong gene-disease association but is caused by a specific deep intronic variant that is not detectable by MM ES. PMID: 27019227.

Van Esch-O'Driscoll syndrome MIM #30103, which is ID, is described in a single paper PMID 31006512. 5 families, 5 variants in 9 patients, AMBER for gene-disease association.
Mackenzie's Mission_Reproductive Carrier Screening v0.47 POLA1 Sarah Righetti reviewed gene: POLA1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27019227; Phenotypes: Pigmentary disorder, reticulate, with systemic manifestations, X-linked, MIM #301220, Van Esch-O'Driscoll syndrome, MIM #301030; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mackenzie's Mission_Reproductive Carrier Screening v0.47 UPB1 Sarah Righetti reviewed gene: UPB1: Rating: RED; Mode of pathogenicity: None; Publications: 24526388; Phenotypes: Beta-ureidopropionase deficiency, MIM #613161; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.47 UPB1 Sarah Righetti Deleted their review
Mackenzie's Mission_Reproductive Carrier Screening v0.47 UPB1 Sarah Righetti changed review comment from: Insufficient evidence that abolition of enzymatic activity is disease-causing. LOF/pathogenic missense alleles at high frequency in general population.In particular, the most frequently reported variant, p.Arg326Gln, is very common among East Asians, with a carrier frequency of 1 in 20 and 1 in 907 being homozygous for the variant. Moreover, published reports (PMID: 24526388) include multiple individuals with mild or no phenotypes. ; to: Insufficient evidence that abolition of enzymatic activity is disease-causing. LOF/pathogenic missense alleles at high frequency in general population.In particular, the most frequently reported variant, p.Arg326Gln, is very common among East Asians, with a carrier frequency of 1 in 20 and 1 in 907 being homozygous for the variant. Moreover, published reports (PMID: 24526388) include multiple individuals with mild or no phenotypes.
Mackenzie's Mission_Reproductive Carrier Screening v0.47 UPB1 Sarah Righetti changed review comment from: Insufficient evidence that abolition of enzymatic activity is disease-causing. LOF/pathogenic missense alleles at high frequency in general population.; to: Insufficient evidence that abolition of enzymatic activity is disease-causing. LOF/pathogenic missense alleles at high frequency in general population.In particular, the most frequently reported variant, p.Arg326Gln, is very common among East Asians, with a carrier frequency of 1 in 20 and 1 in 907 being homozygous for the variant. Moreover, published reports (PMID: 24526388) include multiple individuals with mild or no phenotypes.
Mackenzie's Mission_Reproductive Carrier Screening v0.47 UPB1 Sarah Righetti reviewed gene: UPB1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.47 ERBB3 Seb Lunke Marked gene: ERBB3 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.47 ERBB3 Seb Lunke Gene: erbb3 has been classified as Amber List (Moderate Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.47 ERBB3 Seb Lunke Classified gene: ERBB3 as Amber List (moderate evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.47 ERBB3 Seb Lunke Added comment: Comment on list classification: Downgraded to Amber due to limited evidence and variable phenotypes described in literature.
Mackenzie's Mission_Reproductive Carrier Screening v0.47 ERBB3 Seb Lunke Gene: erbb3 has been classified as Amber List (Moderate Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.46 SLC35A3 Seb Lunke Marked gene: SLC35A3 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.46 SLC35A3 Seb Lunke Gene: slc35a3 has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.46 SLC35A3 Seb Lunke Publications for gene: SLC35A3 were set to
Mackenzie's Mission_Reproductive Carrier Screening v0.45 SLC35A3 Seb Lunke Phenotypes for gene: SLC35A3 were changed from ?Arthrogryposis, mental retardation, and seizures to Arthrogryposis, mental retardation, and seizures (MIM615553)
Mackenzie's Mission_Reproductive Carrier Screening v0.44 UGT1A1 Sarah Righetti commented on gene: UGT1A1
Mackenzie's Mission_Reproductive Carrier Screening v0.44 EMG1 Sarah Righetti reviewed gene: EMG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19463982; Phenotypes: Bowen-Conradi syndrome MIM #2111180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.44 SLC35A3 Sarah Righetti reviewed gene: SLC35A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24031089, 28777481, 28328131; Phenotypes: Arthrogryposis, mental retardation, and seizures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.44 ERBB3 Sarah Righetti changed review comment from: PMID 17701904: Lod score >9 in large Israeli family, also a second unrelated isolated case. Both families: hom 8bp insertion. Phenotype similar to that of null mice.

PMID 31752936: Compound het variants identified in 24mo Chinese female patient with a novel multisystem syndrome disorder without congenital contracture

PMID 28454995: Hom missense in Saudi Arabian individual with lethal congenital contractural syndrome, additional features: dysmorphic features, knee dislocation, bilaterial hip dislocation; to: PMID 17701904: Lod score >9 in large Israeli family, also a second unrelated isolated case. Both families: hom splice variant in intron 10 (IVS10-8A→G) causing fs & premature protein truncation. Fnal studies confirm aberrant splicing. Phenotype similar to that of null mice.

PMID 31752936: Compound het variants identified in 24mo Chinese female patient with a novel multisystem syndrome disorder without congenital contracture

PMID 28454995: Hom missense in Saudi Arabian individual with lethal congenital contractural syndrome, additional features: dysmorphic features, knee dislocation, bilaterial hip dislocation
Mackenzie's Mission_Reproductive Carrier Screening v0.44 IL10RB Seb Lunke Marked gene: IL10RB as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.44 IL10RB Seb Lunke Gene: il10rb has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.44 IL10RB Seb Lunke Classified gene: IL10RB as Green List (high evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.44 IL10RB Seb Lunke Gene: il10rb has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.43 PRKRA Seb Lunke Marked gene: PRKRA as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.43 PRKRA Seb Lunke Gene: prkra has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.43 PRKRA Seb Lunke Classified gene: PRKRA as Green List (high evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.43 PRKRA Seb Lunke Gene: prkra has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.42 MSTO1 Seb Lunke Marked gene: MSTO1 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.42 MSTO1 Seb Lunke Gene: msto1 has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.42 MSTO1 Seb Lunke Classified gene: MSTO1 as Green List (high evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.42 MSTO1 Seb Lunke Gene: msto1 has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.41 XPNPEP3 Seb Lunke Marked gene: XPNPEP3 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.41 XPNPEP3 Seb Lunke Gene: xpnpep3 has been classified as Amber List (Moderate Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.41 XPNPEP3 Seb Lunke Classified gene: XPNPEP3 as Amber List (moderate evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.41 XPNPEP3 Seb Lunke Gene: xpnpep3 has been classified as Amber List (Moderate Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.40 UQCRC2 Seb Lunke Marked gene: UQCRC2 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.40 UQCRC2 Seb Lunke Gene: uqcrc2 has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.40 UQCRC2 Seb Lunke Classified gene: UQCRC2 as Red List (low evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.40 UQCRC2 Seb Lunke Added comment: Comment on list classification: Single variant only, borderline amber for dx, red for screening.
Mackenzie's Mission_Reproductive Carrier Screening v0.40 UQCRC2 Seb Lunke Gene: uqcrc2 has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.39 PPIB Seb Lunke Marked gene: PPIB as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.39 PPIB Seb Lunke Gene: ppib has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.39 PPIB Seb Lunke Classified gene: PPIB as Green List (high evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.39 PPIB Seb Lunke Gene: ppib has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.38 GALT Seb Lunke Classified gene: GALT as Green List (high evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.38 GALT Seb Lunke Gene: galt has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.37 TUBA8 Seb Lunke Marked gene: TUBA8 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.37 TUBA8 Seb Lunke Gene: tuba8 has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.37 TUBA8 Seb Lunke Classified gene: TUBA8 as Red List (low evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.37 TUBA8 Seb Lunke Gene: tuba8 has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.36 SPEG Seb Lunke Classified gene: SPEG as Green List (high evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.36 SPEG Seb Lunke Added comment: Comment on list classification: Agreed green gene, update gene selection committee at next meeting.
Mackenzie's Mission_Reproductive Carrier Screening v0.36 SPEG Seb Lunke Gene: speg has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.35 TSPYL1 Seb Lunke Marked gene: TSPYL1 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.35 TSPYL1 Seb Lunke Gene: tspyl1 has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.35 TSPYL1 Seb Lunke Classified gene: TSPYL1 as Red List (low evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.35 TSPYL1 Seb Lunke Added comment: Comment on list classification: Agreed amber in diagnostic, but for screening test would need a fair bit of extra evidence.
Mackenzie's Mission_Reproductive Carrier Screening v0.35 TSPYL1 Seb Lunke Gene: tspyl1 has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.34 PIP5K1C Seb Lunke Marked gene: PIP5K1C as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.34 PIP5K1C Seb Lunke Gene: pip5k1c has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.34 PIP5K1C Seb Lunke Classified gene: PIP5K1C as Red List (low evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.34 PIP5K1C Seb Lunke Added comment: Comment on list classification: Agreed amber in diagnostic, but for screening test would need a fair bit of extra evidence.
Mackenzie's Mission_Reproductive Carrier Screening v0.34 PIP5K1C Seb Lunke Gene: pip5k1c has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.33 VAC14 Sarah Righetti gene: VAC14 was added
gene: VAC14 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review
Mode of inheritance for gene: VAC14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VAC14 were set to 27292112; 31392254; 31591492; 31387860; 31876398
Phenotypes for gene: VAC14 were set to Striatonigral degeneration, childhood-onset, MIM#617054
Review for gene: VAC14 was set to GREEN
Added comment: Multiple reports in unrelated patients
Sources: Expert Review
Mackenzie's Mission_Reproductive Carrier Screening v0.33 AFF2 Seb Lunke Marked gene: AFF2 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.33 AFF2 Seb Lunke Gene: aff2 has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.33 AFF2 Seb Lunke Classified gene: AFF2 as Red List (low evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.33 AFF2 Seb Lunke Gene: aff2 has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.32 PRKRA Sarah Righetti gene: PRKRA was added
gene: PRKRA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review
Mode of inheritance for gene: PRKRA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRKRA were set to 29279192; 25142429
Phenotypes for gene: PRKRA were set to Dystonia 16, MIM#612067
Review for gene: PRKRA was set to GREEN
Added comment: Sufficient reports - most common variant is c.665C>T p.Pro222Leu, rs121434410

PMID 29279192 (2017)- 7 patients in Brazilian cohort - most homozygous for P222L
PMID 2514249: (2014) - 2 Polish sibs - hom for P222L
Sources: Expert Review
Mackenzie's Mission_Reproductive Carrier Screening v0.32 MSTO1 Sarah Righetti gene: MSTO1 was added
gene: MSTO1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review
Mode of inheritance for gene: MSTO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MSTO1 were set to 31463572; 30684668
Phenotypes for gene: MSTO1 were set to Myopathy, mitochondrial, and ataxia, MIM#617675
Review for gene: MSTO1 was set to GREEN
Added comment: PMID 31463572: 12 patients
PMID 30684668: 2 sibs - compound het fs and missense.
Sources: Expert Review
Mackenzie's Mission_Reproductive Carrier Screening v0.32 IL10RB Sarah Righetti changed review comment from: Sufficient patients reported (note protein encoded by IL10RB is IL10R2)

19890111: 2 affected sibs with hom stop-gain.
22549091: 8 patients - although a couple where the pathogenicity is in doubt, sufficient overall evidence. Note patient 1 and patient 2 (siblings sharing the same homozygous mutation) had different disease severity) - likely to be other factors which contribute to phenotype.

Severe phenotype.; to: Sufficient patients reported (note protein encoded by IL10RB is IL10R2)

19890111: 2 affected sibs with hom stop-gain.
22549091: 8 patients - although a couple where the pathogenicity is in doubt, sufficient overall evidence. Note patient 1 and patient 2 (siblings sharing the same homozygous mutation) had different disease severity - likely to be other factors which contribute to phenotype.

Severe phenotype.
Mackenzie's Mission_Reproductive Carrier Screening v0.32 IL10RB Sarah Righetti Deleted their comment
Mackenzie's Mission_Reproductive Carrier Screening v0.32 IL10RB Sarah Righetti commented on gene: IL10RB: Sufficient patients reported (note protein encoded by IL10RB is IL10R2)

19890111: 2 affected sibs with hom stop-gain.
22549091: 8 patients - although a couple where the pathogenicity is in doubt, sufficient overall evidence. Note patient 1 and patient 2 (siblings sharing the same homozygous mutation) had different disease severity) - likely to be other factors which contribute to phenotype.

Severe phenotype.
Mackenzie's Mission_Reproductive Carrier Screening v0.32 IL10RB Sarah Righetti reviewed gene: IL10RB: Rating: GREEN; Mode of pathogenicity: None; Publications: 19890111, 22549091; Phenotypes: Inflammatory bowel disease 25, early onset, autosomal recessive, MIM#612567; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.32 IL10RB Sarah Righetti Deleted their review
Mackenzie's Mission_Reproductive Carrier Screening v0.32 IL10RB Sarah Righetti gene: IL10RB was added
gene: IL10RB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review
Mode of inheritance for gene: IL10RB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL10RB were set to 22549091
Phenotypes for gene: IL10RB were set to Inflammatory bowel disease 25, early onset, #MIM612657
Review for gene: IL10RB was set to GREEN
Added comment: Sources: Expert Review
Mackenzie's Mission_Reproductive Carrier Screening v0.32 XPNPEP3 Sarah Righetti reviewed gene: XPNPEP3: Rating: AMBER; Mode of pathogenicity: None; Publications: 20179356, 32660933; Phenotypes: Nephronophthisis-like nephropathy 1, MIM# 613159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.32 UQCRC2 Sarah Righetti reviewed gene: UQCRC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 28275242, 23281071; Phenotypes: Mitochondrial complex III deficiency, nuclear type 5, MIM# 615160; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.32 PPIB Sarah Righetti changed review comment from: Sources: Expert Review; to: >10 cases across multiple reports, severe phenotype
Mackenzie's Mission_Reproductive Carrier Screening v0.32 PPIB Sarah Righetti gene: PPIB was added
gene: PPIB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review
Mode of inheritance for gene: PPIB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PPIB were set to Osteogenesis imperfecta, type IX, #259440
Review for gene: PPIB was set to GREEN
Added comment: Sources: Expert Review
Mackenzie's Mission_Reproductive Carrier Screening v0.32 GALT Sarah Righetti changed review comment from: Now included in all states for consistency. Treatable but can still be signficant speech problems and long-term neurological issues - treatment only resolves liver phenotype.; to: Not included on NBS in Victoria, included in all three states for consistency.

Treatable but can still be signficant speech problems and long-term neurological issues - treatment only resolves liver phenotype.
Mackenzie's Mission_Reproductive Carrier Screening v0.32 GALT Sarah Righetti reviewed gene: GALT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Galactosaemia, MIM #230400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.32 ERBB3 Sarah Righetti reviewed gene: ERBB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 17701904, 31752936, 28454995; Phenotypes: Lethal congenital contractural syndrome 3, MIM# 611369; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.32 ERBB3 Sarah Righetti Deleted their review
Mackenzie's Mission_Reproductive Carrier Screening v0.32 ERBB3 Sarah Righetti reviewed gene: ERBB3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 17701904, 31752936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.32 TUBA8 Sarah Righetti reviewed gene: TUBA8: Rating: RED; Mode of pathogenicity: None; Publications: 19896110, 31481326, 28388629; Phenotypes: Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.32 TUBA8 Sarah Righetti Deleted their review
Mackenzie's Mission_Reproductive Carrier Screening v0.32 TUBA8 Sarah Righetti reviewed gene: TUBA8: Rating: ; Mode of pathogenicity: None; Publications: 19896110, 31481326, 28388629; Phenotypes: Cortical dysplasia, complex, with other brain malformations 8, MIM #613180; Mode of inheritance: None
Mackenzie's Mission_Reproductive Carrier Screening v0.32 TSPYL1 Sarah Righetti reviewed gene: TSPYL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 15273283, 19463995, 22137496, 25449952, 16418600; Phenotypes: Sudden infant death with dysgenesis of the testes syndrome, MIM#608800); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.32 PIP5K1C Sarah Righetti reviewed gene: PIP5K1C: Rating: AMBER; Mode of pathogenicity: None; Publications: 17701898; Phenotypes: Lethal congenital contractural syndrome 3, MIM# 611369; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.32 AFF2 Sarah Righetti gene: AFF2 was added
gene: AFF2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review
Mode of inheritance for gene: AFF2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AFF2 were set to Mental retardation, X-linked, FRAXE type, #309548
Added comment: Mechanism of disease is triplet repeat expansion. FRAXE less severe and much rarer than FRAXA. Excluded from MM screening panel on technical grounds.
Sources: Expert Review
Mackenzie's Mission_Reproductive Carrier Screening v0.32 SPEG Zornitza Stark gene: SPEG was added
gene: SPEG was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review
Mode of inheritance for gene: SPEG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPEG were set to 25087613; 31625632; 30412272; 30157964; 29614691; 29474540; 28624463; 26578207; 25087613
Phenotypes for gene: SPEG were set to Centronuclear myopathy 5, MIM# 615959
Review for gene: SPEG was set to GREEN
Added comment: Centronuclear myopathy-5 is an autosomal recessive congenital myopathy characterized by severe neonatal hypotonia with respiratory insufficiency and difficulty feeding. Some individuals die in infancy, and some develop dilated cardiomyopathy. More than 10 unrelated families reported, functional data.
Sources: Expert Review
Mackenzie's Mission_Reproductive Carrier Screening v0.31 ACADM Sarah Righetti changed review comment from: MUTATIONAL AND CLINICAL SPECTRUM: Most common variant is NM_000016.6:c.985A>G p.K329E (p.K304E in mature protein) seen hom/chet in patients with classical MCAD deficiency, also seen chet in asymptomatic siblings. Beware existence of pseudodeficiency alleles (e.g. chet c.199T>C p.Y67H) where individuals have reduced enzymatic activity and so are positive on NBS but do not usually have clinical symptoms.

TREATMENT: Covered on NBS, generally very successful treatment with mainly dietary management. However 3 neonates in past year at WCH who have had cardiac/respiratory arrests before 48 hours (i.e. prior to NBS results being available). There are a number of babies who have died or had brain damage as a result of hypoglycemia prior to the test being taken.

Summary: GREEN; meets MM panel inclusion criteria where early diagnosis can lead to more effective treatment. Counsel accordingly.
Sources: Expert Review; to: Mutational and clinical spectrum: Most common variant is NM_000016.6:c.985A>G p.K329E (p.K304E in mature protein) seen hom/chet in patients with classical MCAD deficiency, also seen chet in asymptomatic siblings. Beware existence of pseudodeficiency alleles (e.g. chet c.199T>C p.Y67H) where individuals have reduced enzymatic activity and so are positive on NBS but do not usually have clinical symptoms.

Treatment: Covered on NBS, generally very successful treatment with mainly dietary management. However 3 neonates in past year at WCH who have had cardiac/respiratory arrests before 48 hours (i.e. prior to NBS results being available). There are a number of babies who have died or had brain damage as a result of hypoglycemia prior to the test being taken.

Summary: GREEN; meets MM panel inclusion criteria where early diagnosis can lead to more effective treatment. Counsel accordingly.
Sources: Expert Review
Mackenzie's Mission_Reproductive Carrier Screening v0.31 KCNE1 Seb Lunke changed review comment from: Comment by Ivan Macciocca:
as reported in Circulation. 2020 Feb 11;141(6):418-428 PMID: 31983240, by the International, Multicentered LQTS ClinGen Working Group:
Genetic evidence associating this gene with disease causality was also based on a candidate gene approach and was limited in scope. There is strong evidence for a role of KCNE1 in acquired LQTS which led the panel to classify it as having limited evidence for disease causality for unprovoked LQTS, although studies in large families with variant
segregation is lacking. Furthermore, several case reports have identified homozygous or compound heterozygous rare variants in KCNE1 in patients with Jervell and Lange-Nielsen syndrome; however, parents or siblings carrying only 1 allele have reported normal phenotypes, suggesting an association of this gene with an autosomal-recessive form of LQTS.

Comment by Zornitza Stark:
Rated as MODERATE by ClinGen for bi-allelic disease. Evidence for mono-allelic disease is limited.

Additional: Technically challenging as only coding exon has reduced mappability and putative (but disputed) pseudogene KCNE1B that was introduced in GRCh38, but is not present in GRCh37/hg19 (PMID31527855, PMID30936463); to: Comment by Ivan Macciocca:
as reported in Circulation. 2020 Feb 11;141(6):418-428 PMID: 31983240, by the International, Multicentered LQTS ClinGen Working Group:
Genetic evidence associating this gene with disease causality was also based on a candidate gene approach and was limited in scope. There is strong evidence for a role of KCNE1 in acquired LQTS which led the panel to classify it as having limited evidence for disease causality for unprovoked LQTS, although studies in large families with variant
segregation is lacking. Furthermore, several case reports have identified homozygous or compound heterozygous rare variants in KCNE1 in patients with Jervell and Lange-Nielsen syndrome; however, parents or siblings carrying only 1 allele have reported normal phenotypes, suggesting an association of this gene with an autosomal-recessive form of LQTS.

Comment by Zornitza Stark:
Rated as MODERATE by ClinGen for bi-allelic disease. Evidence for mono-allelic disease is limited.

Additional: Technically challenging as only coding exon has reduced mappability and putative (but disputed) pseudogene KCNE1B that was introduced in GRCh38, but is not present in GRCh37/hg19 (PMID31527855, PMID30936463)

Association with Long-QT is questionable. Remains GREEN for Deafness, but on balance does not currently meet inclusion criteria for Mackenzie's Mission
Mackenzie's Mission_Reproductive Carrier Screening v0.31 KCNE1 Seb Lunke Classified gene: KCNE1 as Amber List (moderate evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.31 KCNE1 Seb Lunke Gene: kcne1 has been classified as Amber List (Moderate Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.30 KCNE1 Seb Lunke reviewed gene: KCNE1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31527855, 30936463, 31983240; Phenotypes: Long QT syndrome 5, MIM# 613695, Jervell and Lange-Nielsen syndrome 2, MIM# 612347, Acquired LQTS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.30 PIBF1 Sarah Righetti reviewed gene: PIBF1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26167768, 29695797, 30858804, 33004012; Phenotypes: JOUBERT SYNDROME 33, OMIM# 617767; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.30 PIBF1 Sarah Righetti Deleted their review
Mackenzie's Mission_Reproductive Carrier Screening v0.30 B9D1 Seb Lunke Marked gene: B9D1 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.30 B9D1 Seb Lunke Gene: b9d1 has been classified as Amber List (Moderate Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.30 B9D1 Seb Lunke Classified gene: B9D1 as Amber List (moderate evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.30 B9D1 Seb Lunke Gene: b9d1 has been classified as Amber List (Moderate Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.29 ACADM Seb Lunke Marked gene: ACADM as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.29 ACADM Seb Lunke Gene: acadm has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.29 ACADM Seb Lunke Classified gene: ACADM as Green List (high evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.29 ACADM Seb Lunke Gene: acadm has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.28 ACADM Sarah Righetti gene: ACADM was added
gene: ACADM was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review
Mode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACADM were set to Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM #201450
Review for gene: ACADM was set to GREEN
Added comment: MUTATIONAL AND CLINICAL SPECTRUM: Most common variant is NM_000016.6:c.985A>G p.K329E (p.K304E in mature protein) seen hom/chet in patients with classical MCAD deficiency, also seen chet in asymptomatic siblings. Beware existence of pseudodeficiency alleles (e.g. chet c.199T>C p.Y67H) where individuals have reduced enzymatic activity and so are positive on NBS but do not usually have clinical symptoms.

TREATMENT: Covered on NBS, generally very successful treatment with mainly dietary management. However 3 neonates in past year at WCH who have had cardiac/respiratory arrests before 48 hours (i.e. prior to NBS results being available). There are a number of babies who have died or had brain damage as a result of hypoglycemia prior to the test being taken.

Summary: GREEN; meets MM panel inclusion criteria where early diagnosis can lead to more effective treatment. Counsel accordingly.
Sources: Expert Review
Mackenzie's Mission_Reproductive Carrier Screening v0.28 B9D1 Sarah Righetti gene: B9D1 was added
gene: B9D1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Literature
Mode of inheritance for gene: B9D1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B9D1 were set to 24886560; 21493627; 25920555
Phenotypes for gene: B9D1 were set to Meckel syndrome 9, MIM# 614209; Joubert syndrome 27, MIM# 617120
Added comment: PMID: 24886560 - 2 unrelated patients with mild Joubert syndrome (1 hom missense, 1 chet inframe deletion/missense). Authors suggest biallelic null variants are lethal.

PMID: 21493627 - 1 fetus with Meckel syndrome and chet for a splice/gene deletion. The splice variant proven to result in exon skipping -> PTC, but the deletion spans a large region including 18 other genes. Patient also had an additional variant in CEP290 called LP. Authors perform functional studies on patient cells but given the large deletion/CEP290 variant, results cannot be used.

PMID 25920555 - another report of digenic inheritance - not usable, patient was only heterozygous for a single B9D1 variant

Summary: 2 unrelated patients, AMBER
Sources: Literature
Mackenzie's Mission_Reproductive Carrier Screening v0.28 TRAC Seb Lunke Marked gene: TRAC as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.28 TRAC Seb Lunke Gene: trac has been classified as Amber List (Moderate Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.28 TRAC Seb Lunke Classified gene: TRAC as Amber List (moderate evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.28 TRAC Seb Lunke Gene: trac has been classified as Amber List (Moderate Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.27 ABCC6 Seb Lunke Marked gene: ABCC6 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.27 ABCC6 Seb Lunke Gene: abcc6 has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.27 SERPINA1 Seb Lunke Marked gene: SERPINA1 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.27 SERPINA1 Seb Lunke Gene: serpina1 has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.27 PIBF1 Sarah Righetti gene: PIBF1 was added
gene: PIBF1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Literature
Mode of inheritance for gene: PIBF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIBF1 were set to 26167768; 29695797; 30858804; 33004012
Phenotypes for gene: PIBF1 were set to OMIM# 617767: JOUBERT SYNDROME 33; JBTS33
Review for gene: PIBF1 was set to AMBER
Added comment: Seven Joubert families, four with the same founder variant (all Hutterite)
Sources: Literature
Mackenzie's Mission_Reproductive Carrier Screening v0.27 TRAC Sarah Righetti changed review comment from: Two individuals from two unrelated consanguinous families with same homozygous truncating variant; to: Two unrelated individuals from two consanguinous families of Pakistani origin with same homozygous truncating variant
Mackenzie's Mission_Reproductive Carrier Screening v0.27 TRAC Sarah Righetti reviewed gene: TRAC: Rating: AMBER; Mode of pathogenicity: None; Publications: 21206088; Phenotypes: Immunodeficiency 7, TCR-alpha/beta deficient; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.27 ABCC6 Sarah Righetti reviewed gene: ABCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.27 KCNE1 Sarah Righetti reviewed gene: KCNE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.27 SERPINA1 Sarah Righetti reviewed gene: SERPINA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Emphysema-cirrhosis, due to AAT deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.27 CIB2 Seb Lunke Marked gene: CIB2 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.27 CIB2 Seb Lunke Gene: cib2 has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.27 CIB2 Seb Lunke Classified gene: CIB2 as Red List (low evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.27 CIB2 Seb Lunke Gene: cib2 has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.26 CBS Seb Lunke Marked gene: CBS as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.26 CBS Seb Lunke Gene: cbs has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.26 CBS Seb Lunke Classified gene: CBS as Red List (low evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.26 CBS Seb Lunke Gene: cbs has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.25 CBS Seb Lunke reviewed gene: CBS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.25 CD81 Zornitza Stark edited their review of gene: CD81: Changed rating: RED
Mackenzie's Mission_Reproductive Carrier Screening v0.25 CD81 Zornitza Stark Marked gene: CD81 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.25 CD81 Zornitza Stark Gene: cd81 has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.25 CD81 Zornitza Stark Publications for gene: CD81 were set to
Mackenzie's Mission_Reproductive Carrier Screening v0.24 CD81 Zornitza Stark Classified gene: CD81 as Red List (low evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.24 CD81 Zornitza Stark Gene: cd81 has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.23 CD81 Zornitza Stark commented on gene: CD81: Discussed with Edwin Kirk, downgrade to RED for MM panel.
Mackenzie's Mission_Reproductive Carrier Screening v0.23 ERBB3 Zornitza Stark reviewed gene: ERBB3: Rating: AMBER; Mode of pathogenicity: None; Publications: 17701904, 31752936; Phenotypes: Lethal congenital contractural syndrome 2, MIM# 607598; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.23 CD81 Zornitza Stark reviewed gene: CD81: Rating: AMBER; Mode of pathogenicity: None; Publications: 20237408; Phenotypes: Immunodeficiency, common variable, 6, MIM# 613496; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.23 SEMA4A Zornitza Stark reviewed gene: SEMA4A: Rating: AMBER; Mode of pathogenicity: None; Publications: 16199541; Phenotypes: Cone-rod dystrophy 10, 610283, Retinitis pigmentosa 35, 610282; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.23 CIB2 Zornitza Stark reviewed gene: CIB2: Rating: RED; Mode of pathogenicity: None; Publications: 23023331, 23023331, 26173970, 26473954, 27344577, 26226137, 26445815; Phenotypes: Usher syndrome, type IJ 614869; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.23 VPS37A Zornitza Stark reviewed gene: VPS37A: Rating: AMBER; Mode of pathogenicity: None; Publications: 22717650; Phenotypes: Spastic paraplegia 53, autosomal recessive, MIM# 614898; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.23 DSTYK Zornitza Stark reviewed gene: DSTYK: Rating: AMBER; Mode of pathogenicity: None; Publications: 28157540, 23862974; Phenotypes: Spastic paraplegia 23, MIM# 270750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.23 ISCA1 Zornitza Stark gene: ISCA1 was added
gene: ISCA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review
Mode of inheritance for gene: ISCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ISCA1 were set to 28356563; 32092383; 31016283; 30113620; 30105122
Phenotypes for gene: ISCA1 were set to Multiple mitochondrial dysfunctions syndrome 5, MIM# 617613
Review for gene: ISCA1 was set to GREEN
Added comment: Multiple unrelated families reported. Severe disorder characterised by progressive neurologic deterioration beginning in early infancy. Affected individuals have essentially no psychomotor development and have early-onset seizures with neurologic decline and spasticity. Brain imaging shows severe leukodystrophy with evidence of dys- or delayed myelination. Rat model results in early lethality. Founder variant c.259G > A, p.(Glu87Lys) reported in Indian families.
Sources: Expert Review
Mackenzie's Mission_Reproductive Carrier Screening v0.22 CSTB Zornitza Stark Tag 5'UTR tag was added to gene: CSTB.
Tag STR tag was added to gene: CSTB.
Mackenzie's Mission_Reproductive Carrier Screening v0.22 CSTB Zornitza Stark reviewed gene: CSTB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM# 254800; Mode of inheritance: None
Mackenzie's Mission_Reproductive Carrier Screening v0.22 ADPRHL2 Zornitza Stark gene: ADPRHL2 was added
gene: ADPRHL2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review
new gene name tags were added to gene: ADPRHL2.
Mode of inheritance for gene: ADPRHL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADPRHL2 were set to 30100084; 30401461
Phenotypes for gene: ADPRHL2 were set to Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, MIM#618170
Review for gene: ADPRHL2 was set to GREEN
Added comment: Fourteen unrelated families reported with stress-induced childhood-onset neurodegeneration with variable ataxia and seizures (CONDSIAS), an autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development. The disorder is characterised by cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable: some individuals develop seizures early in life that are associated with loss of developmental milestones and early sudden death in childhood, whereas others present at a later age with muscle weakness, gait ataxia, impaired speech, more subtle clinical deterioration, and cognitive decline. Neurologic involvement includes gait ataxia, cerebellar signs associated with cerebellar atrophy, generalized brain atrophy, impaired intellectual development, hearing loss, and peripheral neuropathy.

New HGNC approved name is ADPRS.
Sources: Expert Review
Mackenzie's Mission_Reproductive Carrier Screening v0.21 GTPBP2 Zornitza Stark gene: GTPBP2 was added
gene: GTPBP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review
Mode of inheritance for gene: GTPBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTPBP2 were set to 26675814; 29449720; 30790272
Phenotypes for gene: GTPBP2 were set to Jaberi-Elahi syndrome, MIM#617988
Review for gene: GTPBP2 was set to GREEN
Added comment: Nine individuals from six unrelated families with bi-allelic variants in this gene causing a neuro-ectodermal syndrome. Key features include prenatal onset microcephaly, tone abnormalities, and movement disorders, epilepsy, dysmorphic features, retinal dysfunction, ectodermal dysplasia, and brain iron accumulation.
Sources: Expert Review
Mackenzie's Mission_Reproductive Carrier Screening v0.20 FITM2 Zornitza Stark gene: FITM2 was added
gene: FITM2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert list
Mode of inheritance for gene: FITM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FITM2 were set to 28067622; 30214770; 30288795
Phenotypes for gene: FITM2 were set to Siddiqi syndrome MIM#618635
Review for gene: FITM2 was set to GREEN
Added comment: Autosomal recessive condition characterised by global developmental delay, early-onset progressive sensorineural hearing impairment, regression of motor skills, dystonia, poor overall growth, and low body mass index (BMI). More variable features may include ichthyosis-like skin abnormalities or sensory neuropathy. 7 individuals from 3 unrelated families reported, supportive Drosophila model.
Sources: Expert list
Mackenzie's Mission_Reproductive Carrier Screening v0.19 YIF1B Zornitza Stark gene: YIF1B was added
gene: YIF1B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review
Mode of inheritance for gene: YIF1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YIF1B were set to 32006098; 26077767
Phenotypes for gene: YIF1B were set to Central hypotonia; Failure to thrive; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Spasticity; Abnormality of movement
Review for gene: YIF1B was set to GREEN
Added comment: 6 individuals (from 5 families) with biallelic YIF1B truncating variants reported. Presenting features: hypotonia, failure to thrive, microcephaly (5/6), severe global DD and ID as well as features suggestive of a motor disorder (dystonia/spasticity/dyskinesia). Seizures were reported in 2 unrelated individuals (2/6). MRI abnormalities were observed in some with thin CC being a feature in 3. Affected individuals were found to be homozygous for truncating variants (4/5 families being consanguineous). The following 3 variants were identified (NM_001039672.2) : c.186dupT or p.Ala64fs / c.360_361insACAT or p.Gly121fs / c.598G>T or p.Glu200*. Yif1B KO mice demonstrate a disorganized Golgi architecture in pyramidal hippocampal neurons (Alterio et al 2015 - PMID: 26077767). Functional/network analysis of genes co-regulated with YIF1B based on available RNAseq data, suggest enrichement in in genes important for nervous system development and function.
Sources: Expert Review
Mackenzie's Mission_Reproductive Carrier Screening v0.18 DYNC1I2 Zornitza Stark gene: DYNC1I2 was added
gene: DYNC1I2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review
Mode of inheritance for gene: DYNC1I2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DYNC1I2 were set to 31079899
Phenotypes for gene: DYNC1I2 were set to Neurodevelopmental disorder with microcephaly and structural brain anomalies , MIM#618492
Review for gene: DYNC1I2 was set to GREEN
Added comment: Five individuals from three unrelated families reported.
Sources: Expert Review
Mackenzie's Mission_Reproductive Carrier Screening v0.17 TRAPPC6B Zornitza Stark gene: TRAPPC6B was added
gene: TRAPPC6B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review
Mode of inheritance for gene: TRAPPC6B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAPPC6B were set to 28626029; 28397838; 31687267
Phenotypes for gene: TRAPPC6B were set to Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862
Review for gene: TRAPPC6B was set to GREEN
Added comment: Five unrelated families reported with autosomal recessive neurodegenerative disorder characterised by global developmental delay, severe intellectual disability with poor or absent speech and autistic stereotypic behaviors, microcephaly, early-onset generalized seizures, and hypotonia.
Sources: Expert Review
Mackenzie's Mission_Reproductive Carrier Screening v0.16 TRAPPC12 Zornitza Stark gene: TRAPPC12 was added
gene: TRAPPC12 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review
Mode of inheritance for gene: TRAPPC12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAPPC12 were set to 32369837; 28777934
Phenotypes for gene: TRAPPC12 were set to Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM# 617669
Review for gene: TRAPPC12 was set to GREEN
Added comment: Four families reported with a severe progressive encephalopathy characterized by microcephaly, global developmental delay, and hearing loss.
Sources: Expert Review
Mackenzie's Mission_Reproductive Carrier Screening v0.15 TPRKB Zornitza Stark gene: TPRKB was added
gene: TPRKB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review
Mode of inheritance for gene: TPRKB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TPRKB were set to 28805828; 30053862
Phenotypes for gene: TPRKB were set to Galloway-Mowat syndrome 5, MIM# 617731
Review for gene: TPRKB was set to GREEN
Added comment: Three unrelated families reported with renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly.
Sources: Expert Review
Mackenzie's Mission_Reproductive Carrier Screening v0.14 TP53RK Zornitza Stark gene: TP53RK was added
gene: TP53RK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review
Mode of inheritance for gene: TP53RK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TP53RK were set to 28805828; 30053862
Phenotypes for gene: TP53RK were set to Galloway-Mowat syndrome 4, MIM# 617730
Review for gene: TP53RK was set to GREEN
Added comment: At least 4 unrelated families reported with renal-neurologic disease characterised by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities, and delayed psychomotor development. Most individuals have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable.
Sources: Expert Review
Mackenzie's Mission_Reproductive Carrier Screening v0.13 TBC1D20 Zornitza Stark gene: TBC1D20 was added
gene: TBC1D20 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert list
Mode of inheritance for gene: TBC1D20 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBC1D20 were set to 24239381; 32740904; 32162791
Phenotypes for gene: TBC1D20 were set to Warburg micro syndrome 4, MIM# 615663; Martsolf syndrome
Review for gene: TBC1D20 was set to GREEN
Added comment: 7 unrelated families reported with autosomal recessive syndrome characterised by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism. One of the families is described as Martsolf syndrome, the rest as Warburg micro.
Sources: Expert list
Mackenzie's Mission_Reproductive Carrier Screening v0.12 TMEM94 Zornitza Stark gene: TMEM94 was added
gene: TMEM94 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert list
Mode of inheritance for gene: TMEM94 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM94 were set to 30526868
Phenotypes for gene: TMEM94 were set to Intellectual developmental disorder with cardiac defects and dysmorphic facies, MIM#618316
Review for gene: TMEM94 was set to GREEN
Added comment: 10 individuals from 6 unrelated families reported.
Sources: Expert list
Mackenzie's Mission_Reproductive Carrier Screening v0.11 PTPN23 Zornitza Stark gene: PTPN23 was added
gene: PTPN23 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert list
Mode of inheritance for gene: PTPN23 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTPN23 were set to 31395947; 29899372; 29090338; 27848944; 25558065
Phenotypes for gene: PTPN23 were set to Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, MIM# 618890
Review for gene: PTPN23 was set to GREEN
Added comment: Over 10 families reported with an autosomal recessive neurologic disorder characterised by global developmental delay apparent from early infancy, poor overall growth often with microcephaly (6/10), impaired intellectual development with delayed or absent speech, axial hypotonia, and peripheral spasticity. Additional common but variable features include early-onset seizures, optic atrophy with poor visual fixation, and dysmorphic facial features. Brain imaging shows cerebral atrophy, poor or absent myelination with loss of white matter volume, and often hypoplasia of the corpus callosum and/or cerebellum.
Sources: Expert list
Mackenzie's Mission_Reproductive Carrier Screening v0.10 PUS7 Zornitza Stark gene: PUS7 was added
gene: PUS7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert list
Mode of inheritance for gene: PUS7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PUS7 were set to 30526862; 30778726; 31583274
Phenotypes for gene: PUS7 were set to Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature; OMIM #618342
Review for gene: PUS7 was set to GREEN
Added comment: 11 individuals from 6 families with ID, speech delay, short stature, microcephaly, and aggressive behavior, with homozygous PUS7 mutations, which segregated with disease.
Sources: Expert list
Mackenzie's Mission_Reproductive Carrier Screening v0.8 HFE2 Zornitza Stark Marked gene: HFE2 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.8 HFE2 Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name is HJV.
Mackenzie's Mission_Reproductive Carrier Screening v0.8 HFE2 Zornitza Stark Gene: hfe2 has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.8 HFE2 Zornitza Stark Tag new gene name tag was added to gene: HFE2.
Mackenzie's Mission_Reproductive Carrier Screening v0.8 LARS Zornitza Stark Marked gene: LARS as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.8 LARS Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name LARS1
Mackenzie's Mission_Reproductive Carrier Screening v0.8 LARS Zornitza Stark Gene: lars has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.8 LARS Zornitza Stark Phenotypes for gene: LARS were changed from ?Infantile liver failure syndrome 1 to Infantile liver failure syndrome 1, MIM# 615438
Mackenzie's Mission_Reproductive Carrier Screening v0.7 LARS Zornitza Stark Tag new gene name tag was added to gene: LARS.
Mackenzie's Mission_Reproductive Carrier Screening v0.7 HPD Teresa Zhao reviewed gene: HPD: Rating: GREEN; Mode of pathogenicity: None; Publications: 10942115, 17560158; Phenotypes: Hawkinsinuria (MIM#140350), AD, Tyrosinemia type III (MIM#276710), AR; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.7 SEC23A Zornitza Stark reviewed gene: SEC23A: Rating: AMBER; Mode of pathogenicity: None; Publications: 16980979, 21039434, 16980978, 27148587; Phenotypes: Craniolenticulosutural dysplasia (MIM# 607812); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.6 DARS Zornitza Stark Marked gene: DARS as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.6 DARS Zornitza Stark Gene: dars has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.6 DARS Zornitza Stark Tag new gene name tag was added to gene: DARS.
Mackenzie's Mission_Reproductive Carrier Screening v0.6 DARS Zornitza Stark reviewed gene: DARS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypomyelination with brainstem and spinal cord involvement and leg spasticity, MIM# 615281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.6 WISP3 Zornitza Stark Marked gene: WISP3 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.6 WISP3 Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name CCN6
Mackenzie's Mission_Reproductive Carrier Screening v0.6 WISP3 Zornitza Stark Gene: wisp3 has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.6 WISP3 Zornitza Stark Tag new gene name tag was added to gene: WISP3.
Mackenzie's Mission_Reproductive Carrier Screening v0.6 LAT Zornitza Stark Marked gene: LAT as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.6 LAT Zornitza Stark Gene: lat has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.6 LAT Zornitza Stark Classified gene: LAT as Green List (high evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.6 LAT Zornitza Stark Gene: lat has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.5 LAT Zornitza Stark gene: LAT was added
gene: LAT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review
Mode of inheritance for gene: LAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAT were set to 27242165; 27522155
Phenotypes for gene: LAT were set to Immunodeficiency 52, MIM# 617514
Review for gene: LAT was set to GREEN
Added comment: Sources: Expert Review
Mackenzie's Mission_Reproductive Carrier Screening v0.4 Zornitza Stark removed gene:SPNS1 from the panel
Mackenzie's Mission_Reproductive Carrier Screening v0.3 GALT Zornitza Stark Marked gene: GALT as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.3 GALT Zornitza Stark Added comment: Comment when marking as ready: Only screened in Victoria as galactosaemia is not part of newborn screening.
Mackenzie's Mission_Reproductive Carrier Screening v0.3 GALT Zornitza Stark Gene: galt has been classified as Amber List (Moderate Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.3 GALT Zornitza Stark Classified gene: GALT as Amber List (moderate evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.3 GALT Zornitza Stark Gene: galt has been classified as Amber List (Moderate Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.2 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease; New South Wales Health Pathology; PathWest
Mackenzie's Mission_Reproductive Carrier Screening v0.1 ASCC1 Zornitza Stark Marked gene: ASCC1 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.1 ASCC1 Zornitza Stark Gene: ascc1 has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.1 ASCC1 Zornitza Stark Phenotypes for gene: ASCC1 were changed from Barrett esophagus/esophageal adenocarcinoma, 614266 (3) to Spinal muscular atrophy with congenital bone fractures 2, MIM#616867
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SHOX Zornitza Stark Marked gene: SHOX as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SHOX Zornitza Stark Gene: shox has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ZNHIT3 Zornitza Stark gene: ZNHIT3 was added
gene: ZNHIT3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ZNHIT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZNHIT3 were set to PEHO syndrome, 260565 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ZNF711 Zornitza Stark gene: ZNF711 was added
gene: ZNF711 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ZNF711 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ZNF711 were set to Mental retardation, X-linked 97, 300803 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ZNF469 Zornitza Stark gene: ZNF469 was added
gene: ZNF469 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ZNF469 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZNF469 were set to Brittle cornea syndrome 1, 229200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ZNF335 Zornitza Stark gene: ZNF335 was added
gene: ZNF335 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ZNF335 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZNF335 were set to Microcephaly 10, primary, autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ZMYND10 Zornitza Stark gene: ZMYND10 was added
gene: ZMYND10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ZMYND10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZMYND10 were set to Ciliary dyskinesia, primary, 22, 615444 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ZMPSTE24 Zornitza Stark gene: ZMPSTE24 was added
gene: ZMPSTE24 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ZMPSTE24 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZMPSTE24 were set to Restrictive dermopathy, lethal, 275210 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ZIC3 Zornitza Stark gene: ZIC3 was added
gene: ZIC3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ZIC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ZIC3 were set to Congenital heart defects, nonsyndromic, 1, X-linked, 306955 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ZFYVE26 Zornitza Stark gene: ZFYVE26 was added
gene: ZFYVE26 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZFYVE26 were set to Spastic paraplegia 15, autosomal recessive, 270700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ZDHHC9 Zornitza Stark gene: ZDHHC9 was added
gene: ZDHHC9 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ZDHHC9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ZDHHC9 were set to Mental retardation, X-linked syndromic, Raymond type, 300799 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ZC4H2 Zornitza Stark gene: ZC4H2 was added
gene: ZC4H2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ZC4H2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ZC4H2 were set to Wieacker-Wolff syndrome, 314580 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ZBTB24 Zornitza Stark gene: ZBTB24 was added
gene: ZBTB24 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ZBTB24 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZBTB24 were set to Immunodeficiency-centromeric instability-facial anomalies syndrome-2, 614069 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ZAP70 Zornitza Stark gene: ZAP70 was added
gene: ZAP70 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ZAP70 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZAP70 were set to Selective T-cell defect, 269840 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 YARS2 Zornitza Stark gene: YARS2 was added
gene: YARS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: YARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: YARS2 were set to Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 XYLT2 Zornitza Stark gene: XYLT2 was added
gene: XYLT2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: XYLT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XYLT2 were set to Spondyloocular syndrome, 605822 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 XYLT1 Zornitza Stark gene: XYLT1 was added
gene: XYLT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: XYLT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XYLT1 were set to Desbuquois dysplasia 2, 615777 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 XRCC4 Zornitza Stark gene: XRCC4 was added
gene: XRCC4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: XRCC4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XRCC4 were set to Short stature, microcephaly, and endocrine dysfunction, 616541 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 XPNPEP3 Zornitza Stark gene: XPNPEP3 was added
gene: XPNPEP3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: XPNPEP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XPNPEP3 were set to Nephronophthisis-like nephropathy 1, 613159 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 XPC Zornitza Stark gene: XPC was added
gene: XPC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: XPC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XPC were set to Xeroderma pigmentosum, group C, 278720 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 XPA Zornitza Stark gene: XPA was added
gene: XPA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: XPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XPA were set to Xeroderma pigmentosum, group A, 278700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 XIAP Zornitza Stark gene: XIAP was added
gene: XIAP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: XIAP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: XIAP were set to Lymphoproliferative syndrome, X-linked, 2, 300635 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 WWOX Zornitza Stark gene: WWOX was added
gene: WWOX was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WWOX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WWOX were set to Epileptic encephalopathy, early infantile, 28, 616211 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 WRN Zornitza Stark gene: WRN was added
gene: WRN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WRN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WRN were set to Werner syndrome, 277700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 WRAP53 Zornitza Stark gene: WRAP53 was added
gene: WRAP53 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WRAP53 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WRAP53 were set to Dyskeratosis congenita, autosomal recessive 3, 613988 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 WNT7A Zornitza Stark gene: WNT7A was added
gene: WNT7A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WNT7A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WNT7A were set to Ulna and fibula, absence of, with severe limb deficiency, 276820 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 WNT10B Zornitza Stark gene: WNT10B was added
gene: WNT10B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WNT10B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WNT10B were set to Split-hand/foot malformation 6, 225300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 WNT1 Zornitza Stark gene: WNT1 was added
gene: WNT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WNT1 were set to Osteogenesis imperfecta, type XV, 615220 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 WNK1 Zornitza Stark gene: WNK1 was added
gene: WNK1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WNK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WNK1 were set to Neuropathy, hereditary sensory and autonomic, type II, 201300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 WHRN Zornitza Stark gene: WHRN was added
gene: WHRN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WHRN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WHRN were set to Usher syndrome, type 2D, 611383 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 WFS1 Zornitza Stark gene: WFS1 was added
gene: WFS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WFS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WFS1 were set to Wolfram syndrome, 222300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 WDR81 Zornitza Stark gene: WDR81 was added
gene: WDR81 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WDR81 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR81 were set to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 WDR73 Zornitza Stark gene: WDR73 was added
gene: WDR73 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WDR73 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR73 were set to Galloway-Mowat syndrome, 251300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 WDR62 Zornitza Stark gene: WDR62 was added
gene: WDR62 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WDR62 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR62 were set to Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 WDR60 Zornitza Stark gene: WDR60 was added
gene: WDR60 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WDR60 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR60 were set to Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 WDR45B Zornitza Stark gene: WDR45B was added
gene: WDR45B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WDR45B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR45B were set to Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 WDR35 Zornitza Stark gene: WDR35 was added
gene: WDR35 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WDR35 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR35 were set to Short-rib thoracic dysplasia 7 with or without polydactyly, 614091 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 WDR34 Zornitza Stark gene: WDR34 was added
gene: WDR34 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WDR34 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR34 were set to Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 WDR19 Zornitza Stark gene: WDR19 was added
gene: WDR19 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WDR19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR19 were set to Senior-Loken syndrome 8, 616307 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 WAS Zornitza Stark gene: WAS was added
gene: WAS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WAS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: WAS were set to Wiskott-Aldrich syndrome, 301000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 WARS2 Zornitza Stark gene: WARS2 was added
gene: WARS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WARS2 were set to Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 VWF Zornitza Stark gene: VWF was added
gene: VWF was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VWF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VWF were set to von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 VSX2 Zornitza Stark gene: VSX2 was added
gene: VSX2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VSX2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VSX2 were set to Microphthalmia with coloboma 3, 610092 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 VRK1 Zornitza Stark gene: VRK1 was added
gene: VRK1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VRK1 were set to Pontocerebellar hypoplasia type 1A, 607596 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 VPS53 Zornitza Stark gene: VPS53 was added
gene: VPS53 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VPS53 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS53 were set to Pontocerebellar hypoplasia, type 2E, 615851 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 VPS45 Zornitza Stark gene: VPS45 was added
gene: VPS45 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VPS45 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS45 were set to Neutropenia, severe congenital, 5, autosomal recessive, 615285 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 VPS37A Zornitza Stark gene: VPS37A was added
gene: VPS37A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VPS37A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS37A were set to Spastic paraplegia 53, autosomal recessive, 614898 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 VPS33B Zornitza Stark gene: VPS33B was added
gene: VPS33B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS33B were set to Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 VPS13B Zornitza Stark gene: VPS13B was added
gene: VPS13B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VPS13B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS13B were set to Cohen syndrome, 216550 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 VPS13A Zornitza Stark gene: VPS13A was added
gene: VPS13A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VPS13A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS13A were set to Choreoacanthocytosis, 200150 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 VPS11 Zornitza Stark gene: VPS11 was added
gene: VPS11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VPS11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS11 were set to Leukodystrophy, hypomyelinating, 12, 616683 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 VMA21 Zornitza Stark gene: VMA21 was added
gene: VMA21 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VMA21 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: VMA21 were set to Myopathy, X-linked, with excessive autophagy, 310440 (3), X-linked recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 VLDLR Zornitza Stark gene: VLDLR was added
gene: VLDLR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VLDLR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VLDLR were set to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 VKORC1 Zornitza Stark gene: VKORC1 was added
gene: VKORC1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VKORC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VKORC1 were set to Vitamin K-dependent clotting factors, combined deficiency of, 2, 607473 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 VIPAS39 Zornitza Stark gene: VIPAS39 was added
gene: VIPAS39 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VIPAS39 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VIPAS39 were set to Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 VARS2 Zornitza Stark gene: VARS2 was added
gene: VARS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VARS2 were set to Combined oxidative phosphorylation deficiency 20, 615917 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 VARS Zornitza Stark gene: VARS was added
gene: VARS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VARS were set to Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, 617802 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 USP9X Zornitza Stark gene: USP9X was added
gene: USP9X was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: USP9X was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: USP9X were set to Mental retardation, X-linked 99, 300919 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 USH2A Zornitza Stark gene: USH2A was added
gene: USH2A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: USH2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: USH2A were set to Usher syndrome, type 2A, 276901 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 USH1G Zornitza Stark gene: USH1G was added
gene: USH1G was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: USH1G was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: USH1G were set to Usher syndrome, type 1G, 606943 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 USH1C Zornitza Stark gene: USH1C was added
gene: USH1C was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: USH1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: USH1C were set to Usher syndrome, type 1C, 276904 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 USB1 Zornitza Stark gene: USB1 was added
gene: USB1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: USB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: USB1 were set to Poikiloderma with neutropenia, 604173 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 UROS Zornitza Stark gene: UROS was added
gene: UROS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UROS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UROS were set to Porphyria, congenital erythropoietic, 263700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 UQCRQ Zornitza Stark gene: UQCRQ was added
gene: UQCRQ was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UQCRQ was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UQCRQ were set to Mitochondrial complex III deficiency, nuclear type 4, 615159 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 UQCRC2 Zornitza Stark gene: UQCRC2 was added
gene: UQCRC2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UQCRC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UQCRC2 were set to Mitochondrial complex III deficiency, nuclear type 5, 615160 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 UPF3B Zornitza Stark gene: UPF3B was added
gene: UPF3B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UPF3B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: UPF3B were set to Mental retardation, X-linked, syndromic 14, 300676 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 UPB1 Zornitza Stark gene: UPB1 was added
gene: UPB1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UPB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UPB1 were set to Beta-ureidopropionase deficiency, 613161 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 UNC80 Zornitza Stark gene: UNC80 was added
gene: UNC80 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UNC80 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UNC80 were set to Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, 616801 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 UNC13D Zornitza Stark gene: UNC13D was added
gene: UNC13D was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UNC13D was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UNC13D were set to Hemophagocytic lymphohistiocytosis, familial, 3, 608898 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 UMPS Zornitza Stark gene: UMPS was added
gene: UMPS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UMPS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UMPS were set to Orotic aciduria, 258900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 UGT1A1 Zornitza Stark gene: UGT1A1 was added
gene: UGT1A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UGT1A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UGT1A1 were set to Crigler-Najjar syndrome, type I, 218800 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 UFM1 Zornitza Stark gene: UFM1 was added
gene: UFM1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UFM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UFM1 were set to Leukodystrophy, hypomyelinating, 14, 617899 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 UBR1 Zornitza Stark gene: UBR1 was added
gene: UBR1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UBR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UBR1 were set to Johanson-Blizzard syndrome, 243800 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 UBE3B Zornitza Stark gene: UBE3B was added
gene: UBE3B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UBE3B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UBE3B were set to Kaufman oculocerebrofacial syndrome, 244450 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 UBE2T Zornitza Stark gene: UBE2T was added
gene: UBE2T was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UBE2T was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UBE2T were set to Fanconi anemia, complementation group T, 616435 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 UBE2A Zornitza Stark gene: UBE2A was added
gene: UBE2A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UBE2A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: UBE2A were set to Mental retardation, X-linked syndromic, Nascimento-type, 300860 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 UBA5 Zornitza Stark gene: UBA5 was added
gene: UBA5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UBA5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UBA5 were set to Epileptic encephalopathy, early infantile, 44, 617132 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 UBA1 Zornitza Stark gene: UBA1 was added
gene: UBA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UBA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: UBA1 were set to Spinal muscular atrophy, X-linked 2, infantile, 301830 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TYRP1 Zornitza Stark gene: TYRP1 was added
gene: TYRP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TYRP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYRP1 were set to Albinism, oculocutaneous, type III, 203290 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TYR Zornitza Stark gene: TYR was added
gene: TYR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TYR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYR were set to Albinism, oculocutaneous, type IA, 203100 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TYMP Zornitza Stark gene: TYMP was added
gene: TYMP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYMP were set to Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TYK2 Zornitza Stark gene: TYK2 was added
gene: TYK2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TYK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYK2 were set to Immunodeficiency 35, 611521 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TXNL4A Zornitza Stark gene: TXNL4A was added
gene: TXNL4A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TXNL4A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TXNL4A were set to Burn-McKeown syndrome, 608572 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TWNK Zornitza Stark gene: TWNK was added
gene: TWNK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TWNK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TWNK were set to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TUSC3 Zornitza Stark gene: TUSC3 was added
gene: TUSC3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TUSC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TUSC3 were set to Mental retardation, autosomal recessive 7, 611093 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TULP1 Zornitza Stark gene: TULP1 was added
gene: TULP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TULP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TULP1 were set to Retinitis pigmentosa 14, 600132 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TUFM Zornitza Stark gene: TUFM was added
gene: TUFM was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TUFM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TUFM were set to Combined oxidative phosphorylation deficiency 4, 610678 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TUBGCP6 Zornitza Stark gene: TUBGCP6 was added
gene: TUBGCP6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TUBGCP6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TUBGCP6 were set to Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TUBGCP4 Zornitza Stark gene: TUBGCP4 was added
gene: TUBGCP4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TUBGCP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TUBGCP4 were set to Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TUBA8 Zornitza Stark gene: TUBA8 was added
gene: TUBA8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TUBA8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TUBA8 were set to Polymicrogyria with optic nerve hypoplasia, 613180 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TTPA Zornitza Stark gene: TTPA was added
gene: TTPA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TTPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTPA were set to Ataxia with isolated vitamin E deficiency, 277460 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TTN Zornitza Stark gene: TTN was added
gene: TTN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TTN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTN were set to Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TTI2 Zornitza Stark gene: TTI2 was added
gene: TTI2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TTI2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTI2 were set to Mental retardation, autosomal recessive 39, 615541 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TTC8 Zornitza Stark gene: TTC8 was added
gene: TTC8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TTC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC8 were set to Bardet-Biedl syndrome 8, 615985 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TTC7A Zornitza Stark gene: TTC7A was added
gene: TTC7A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TTC7A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC7A were set to Gastrointestinal defects and immunodeficiency syndrome, 243150 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TTC37 Zornitza Stark gene: TTC37 was added
gene: TTC37 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TTC37 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC37 were set to Trichohepatoenteric syndrome 1, 222470 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TTC21B Zornitza Stark gene: TTC21B was added
gene: TTC21B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TTC21B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC21B were set to Short-rib thoracic dysplasia 4 with or without polydactyly, 613819 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TTC19 Zornitza Stark gene: TTC19 was added
gene: TTC19 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TTC19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC19 were set to Mitochondrial complex III deficiency, nuclear type 2, 615157 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TSPYL1 Zornitza Stark gene: TSPYL1 was added
gene: TSPYL1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TSPYL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSPYL1 were set to Sudden infant death with dysgenesis of the testes syndrome, 608800 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TSPAN7 Zornitza Stark gene: TSPAN7 was added
gene: TSPAN7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TSPAN7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TSPAN7 were set to Mental retardation, X-linked 58, 300210 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TSHB Zornitza Stark gene: TSHB was added
gene: TSHB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TSHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSHB were set to Hypothryoidism, congenital, nongoitrous 4, 275100 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TSFM Zornitza Stark gene: TSFM was added
gene: TSFM was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TSFM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSFM were set to Combined oxidative phosphorylation deficiency 3, 610505 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TSEN54 Zornitza Stark gene: TSEN54 was added
gene: TSEN54 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TSEN54 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSEN54 were set to Pontocerebellar hypoplasia type 2A, 277470 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TSEN2 Zornitza Stark gene: TSEN2 was added
gene: TSEN2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TSEN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSEN2 were set to Pontocerebellar hypoplasia type 2B, 612389 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TRPM6 Zornitza Stark gene: TRPM6 was added
gene: TRPM6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TRPM6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRPM6 were set to Hypomagnesemia 1, intestinal, 602014 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TRNT1 Zornitza Stark gene: TRNT1 was added
gene: TRNT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TRNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRNT1 were set to Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TRMU Zornitza Stark gene: TRMU was added
gene: TRMU was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TRMU was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRMU were set to Liver failure, transient infantile, 613070 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TRMT10A Zornitza Stark gene: TRMT10A was added
gene: TRMT10A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TRMT10A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRMT10A were set to Microcephaly, short stature, and impaired glucose metabolism, 616033 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TRIT1 Zornitza Stark gene: TRIT1 was added
gene: TRIT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TRIT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIT1 were set to Combined oxidative phosphorylation deficiency 35, 617873 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TRIP11 Zornitza Stark gene: TRIP11 was added
gene: TRIP11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TRIP11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIP11 were set to Achondrogenesis, type IA, 200600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TRIM37 Zornitza Stark gene: TRIM37 was added
gene: TRIM37 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TRIM37 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIM37 were set to Mulibrey nanism, 253250 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TRIM32 Zornitza Stark gene: TRIM32 was added
gene: TRIM32 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TRIM32 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIM32 were set to Muscular dystrophy, limb-girdle, type 2H, 254110 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TREX1 Zornitza Stark gene: TREX1 was added
gene: TREX1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TREX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TREX1 were set to Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TRDN Zornitza Stark gene: TRDN was added
gene: TRDN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TRDN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRDN were set to Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TRAPPC9 Zornitza Stark gene: TRAPPC9 was added
gene: TRAPPC9 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TRAPPC9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRAPPC9 were set to Mental retardation, autosomal recessive 13, 613192 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TRAPPC11 Zornitza Stark gene: TRAPPC11 was added
gene: TRAPPC11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TRAPPC11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRAPPC11 were set to Muscular dystrophy, limb-girdle, type 2S, 615356 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TRAC Zornitza Stark gene: TRAC was added
gene: TRAC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TRAC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRAC were set to Immunodeficiency 7, TCR-alpha/beta deficient, 615387 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TPP1 Zornitza Stark gene: TPP1 was added
gene: TPP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TPP1 were set to Ceroid lipofuscinosis, neuronal, 2, 204500 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TPM3 Zornitza Stark gene: TPM3 was added
gene: TPM3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TPM3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TPM3 were set to Nemaline myopathy 1, autosomal dominant or recessive, 609284 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TPK1 Zornitza Stark gene: TPK1 was added
gene: TPK1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TPK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TPK1 were set to Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TPI1 Zornitza Stark gene: TPI1 was added
gene: TPI1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TPI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TPI1 were set to Hemolytic anemia due to triosephosphate isomerase deficiency, 615512 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TOE1 Zornitza Stark gene: TOE1 was added
gene: TOE1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TOE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TOE1 were set to Pontocerebellar hypoplasia, type 7, 614969 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TNNT1 Zornitza Stark gene: TNNT1 was added
gene: TNNT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TNNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNNT1 were set to Nemaline myopathy 5, Amish type, 605355 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TNFSF11 Zornitza Stark gene: TNFSF11 was added
gene: TNFSF11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TNFSF11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNFSF11 were set to Osteopetrosis, autosomal recessive 2, 259710 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TNFRSF13B Zornitza Stark gene: TNFRSF13B was added
gene: TNFRSF13B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TNFRSF13B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNFRSF13B were set to Immunodeficiency, common variable, 2, 240500 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TNFRSF11B Zornitza Stark gene: TNFRSF11B was added
gene: TNFRSF11B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TNFRSF11B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNFRSF11B were set to Paget disease of bone 5, juvenile-onset, 239000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TNFRSF11A Zornitza Stark gene: TNFRSF11A was added
gene: TNFRSF11A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TNFRSF11A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNFRSF11A were set to Osteopetrosis, autosomal recessive 7, 612301 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TMTC3 Zornitza Stark gene: TMTC3 was added
gene: TMTC3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TMTC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMTC3 were set to Lissencephaly 8, 617255 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TMEM70 Zornitza Stark gene: TMEM70 was added
gene: TMEM70 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TMEM70 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM70 were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TMEM67 Zornitza Stark gene: TMEM67 was added
gene: TMEM67 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM67 were set to Joubert syndrome 6, 610688 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TMEM237 Zornitza Stark gene: TMEM237 was added
gene: TMEM237 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TMEM237 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM237 were set to Joubert syndrome 14, 614424 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TMEM231 Zornitza Stark gene: TMEM231 was added
gene: TMEM231 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TMEM231 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM231 were set to Joubert syndrome 20, 614970 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TMEM216 Zornitza Stark gene: TMEM216 was added
gene: TMEM216 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TMEM216 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM216 were set to Joubert syndrome 2, 608091 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TMEM165 Zornitza Stark gene: TMEM165 was added
gene: TMEM165 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TMEM165 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM165 were set to Congenital disorder of glycosylation, type IIk, 614727 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TMEM138 Zornitza Stark gene: TMEM138 was added
gene: TMEM138 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TMEM138 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM138 were set to Joubert syndrome 16, 614465 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TMEM126A Zornitza Stark gene: TMEM126A was added
gene: TMEM126A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TMEM126A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM126A were set to Optic atrophy 7, 612989 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TMEM107 Zornitza Stark gene: TMEM107 was added
gene: TMEM107 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TMEM107 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM107 were set to Orofaciodigital syndrome XVI, 617563 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TMCO1 Zornitza Stark gene: TMCO1 was added
gene: TMCO1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TMCO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMCO1 were set to Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, 213980 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TK2 Zornitza Stark gene: TK2 was added
gene: TK2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TK2 were set to Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TJP2 Zornitza Stark gene: TJP2 was added
gene: TJP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TJP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TJP2 were set to Cholestasis, progressive familial intrahepatic 4, 615878 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TIMM8A Zornitza Stark gene: TIMM8A was added
gene: TIMM8A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TIMM8A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TIMM8A were set to Jensen syndrome, 311150 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 THOC2 Zornitza Stark gene: THOC2 was added
gene: THOC2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: THOC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: THOC2 were set to Mental retardation, X-linked 12/35, 300957 (3), X-linked recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TH Zornitza Stark gene: TH was added
gene: TH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TH were set to Segawa syndrome, recessive, 605407 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TGM1 Zornitza Stark gene: TGM1 was added
gene: TGM1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TGM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TGM1 were set to Ichthyosis, congenital, autosomal recessive 1, 242300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TF Zornitza Stark gene: TF was added
gene: TF was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TF were set to Atransferrinemia, 209300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TELO2 Zornitza Stark gene: TELO2 was added
gene: TELO2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TELO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TELO2 were set to You-Hoover-Fong syndrome, 616954 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TDRD7 Zornitza Stark gene: TDRD7 was added
gene: TDRD7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TDRD7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TDRD7 were set to Cataract 36, 613887 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TCTN3 Zornitza Stark gene: TCTN3 was added
gene: TCTN3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TCTN3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCTN3 were set to Joubert syndrome 18, 614815 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TCTN2 Zornitza Stark gene: TCTN2 was added
gene: TCTN2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TCTN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCTN2 were set to Joubert syndrome 24
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TCN2 Zornitza Stark gene: TCN2 was added
gene: TCN2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TCN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCN2 were set to Transcobalamin II deficiency, 275350 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TCIRG1 Zornitza Stark gene: TCIRG1 was added
gene: TCIRG1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TCIRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCIRG1 were set to Osteopetrosis, autosomal recessive 1, 259700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TCAP Zornitza Stark gene: TCAP was added
gene: TCAP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TCAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCAP were set to Muscular dystrophy, limb-girdle, type 2G, 601954 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TBX19 Zornitza Stark gene: TBX19 was added
gene: TBX19 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TBX19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBX19 were set to Adrenocorticotropic hormone deficiency, 201400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TBCK Zornitza Stark gene: TBCK was added
gene: TBCK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TBCK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBCK were set to Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TBCE Zornitza Stark gene: TBCE was added
gene: TBCE was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBCE were set to Kenny-Caffey syndrome-1, 244460 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TBCD Zornitza Stark gene: TBCD was added
gene: TBCD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TBCD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBCD were set to Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TBC1D24 Zornitza Stark gene: TBC1D24 was added
gene: TBC1D24 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TBC1D24 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBC1D24 were set to Epileptic encephalopathy, early infantile, 16, 615338 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TBC1D23 Zornitza Stark gene: TBC1D23 was added
gene: TBC1D23 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TBC1D23 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBC1D23 were set to Pontocerebellar hypoplasia, type 11, 617695 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TAZ Zornitza Stark gene: TAZ was added
gene: TAZ was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TAZ were set to Barth syndrome, 302060 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TAP1 Zornitza Stark gene: TAP1 was added
gene: TAP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TAP1 were set to Bare lymphocyte syndrome, type I, 604571 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TANGO2 Zornitza Stark gene: TANGO2 was added
gene: TANGO2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TANGO2 were set to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TALDO1 Zornitza Stark gene: TALDO1 was added
gene: TALDO1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TALDO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TALDO1 were set to Transaldolase deficiency, 606003 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SYP Zornitza Stark gene: SYP was added
gene: SYP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SYP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SYP were set to Mental retardation, X-linked 96, 300802 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SYN1 Zornitza Stark gene: SYN1 was added
gene: SYN1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SYN1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SYN1 were set to Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SURF1 Zornitza Stark gene: SURF1 was added
gene: SURF1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SURF1 were set to Leigh syndrome, due to COX deficiency, 256000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SUOX Zornitza Stark gene: SUOX was added
gene: SUOX was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SUOX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUOX were set to Sulfite oxidase deficiency, 272300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SUMF1 Zornitza Stark gene: SUMF1 was added
gene: SUMF1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SUMF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUMF1 were set to Multiple sulfatase deficiency, 272200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SUCLG1 Zornitza Stark gene: SUCLG1 was added
gene: SUCLG1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SUCLG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUCLG1 were set to Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SUCLA2 Zornitza Stark gene: SUCLA2 was added
gene: SUCLA2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUCLA2 were set to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 STXBP2 Zornitza Stark gene: STXBP2 was added
gene: STXBP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: STXBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STXBP2 were set to Hemophagocytic lymphohistiocytosis, familial, 5, 613101 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 STX11 Zornitza Stark gene: STX11 was added
gene: STX11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: STX11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STX11 were set to Hemophagocytic lymphohistiocytosis, familial, 4, 603552 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 STUB1 Zornitza Stark gene: STUB1 was added
gene: STUB1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: STUB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STUB1 were set to Spinocerebellar ataxia, autosomal recessive 16, 615768 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 STRADA Zornitza Stark gene: STRADA was added
gene: STRADA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: STRADA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STRADA were set to Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 STRA6 Zornitza Stark gene: STRA6 was added
gene: STRA6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: STRA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STRA6 were set to Microphthalmia, isolated, with coloboma 8, 601186 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 STIM1 Zornitza Stark gene: STIM1 was added
gene: STIM1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: STIM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STIM1 were set to Immunodeficiency 10, 612783 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 STIL Zornitza Stark gene: STIL was added
gene: STIL was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: STIL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STIL were set to Microcephaly 7, primary, autosomal recessive, 612703 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 STAT1 Zornitza Stark gene: STAT1 was added
gene: STAT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: STAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STAT1 were set to Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, 613796 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 STAR Zornitza Stark gene: STAR was added
gene: STAR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: STAR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STAR were set to Lipoid adrenal hyperplasia, 201710 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 STAMBP Zornitza Stark gene: STAMBP was added
gene: STAMBP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: STAMBP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STAMBP were set to Microcephaly-capillary malformation syndrome, 614261 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ST3GAL5 Zornitza Stark gene: ST3GAL5 was added
gene: ST3GAL5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ST3GAL5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ST3GAL5 were set to Salt and pepper developmental regression syndrome, 609056 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SSR4 Zornitza Stark gene: SSR4 was added
gene: SSR4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SSR4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SSR4 were set to Congenital disorder of glycosylation, type Iy, 300934 (3), X-linked recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SRD5A3 Zornitza Stark gene: SRD5A3 was added
gene: SRD5A3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SRD5A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SRD5A3 were set to Congenital disorder of glycosylation, type Iq, 612379 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SQSTM1 Zornitza Stark gene: SQSTM1 was added
gene: SQSTM1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SQSTM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SQSTM1 were set to Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SPR Zornitza Stark gene: SPR was added
gene: SPR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SPR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPR were set to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SPNS1 Zornitza Stark gene: SPNS1 was added
gene: SPNS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SPNS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPNS1 were set to Immunodeficiency 52, 617514 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SPINT2 Zornitza Stark gene: SPINT2 was added
gene: SPINT2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SPINT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPINT2 were set to Diarrhea 3, secretory sodium, congenital, syndromic, 270420 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SPINK5 Zornitza Stark gene: SPINK5 was added
gene: SPINK5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SPINK5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPINK5 were set to Netherton syndrome, 256500 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SPG11 Zornitza Stark gene: SPG11 was added
gene: SPG11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPG11 were set to Spastic paraplegia 11, autosomal recessive, 604360 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SPATA7 Zornitza Stark gene: SPATA7 was added
gene: SPATA7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SPATA7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPATA7 were set to Leber congenital amaurosis 3, 604232 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SPATA5 Zornitza Stark gene: SPATA5 was added
gene: SPATA5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SPATA5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPATA5 were set to Epilepsy, hearing loss, and mental retardation syndrome, 616577 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SPART Zornitza Stark gene: SPART was added
gene: SPART was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SPART was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPART were set to Troyer syndrome, 275900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SPAG1 Zornitza Stark gene: SPAG1 was added
gene: SPAG1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SPAG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPAG1 were set to Ciliary dyskinesia, primary, 28, 615505 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SP110 Zornitza Stark gene: SP110 was added
gene: SP110 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SP110 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SP110 were set to Hepatic venoocclusive disease with immunodeficiency, 235550 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SOST Zornitza Stark gene: SOST was added
gene: SOST was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SOST was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SOST were set to Sclerosteosis 1, 269500 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SNX14 Zornitza Stark gene: SNX14 was added
gene: SNX14 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SNX14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SNX14 were set to Spinocerebellar ataxia, autosomal recessive 20, 616354 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SNORD118 Zornitza Stark gene: SNORD118 was added
gene: SNORD118 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SNORD118 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SNORD118 were set to Leukoencephalopathy, brain calcifications, and cysts, 614561 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SNAP29 Zornitza Stark gene: SNAP29 was added
gene: SNAP29 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SNAP29 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SNAP29 were set to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SMS Zornitza Stark gene: SMS was added
gene: SMS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SMS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SMS were set to Mental retardation, X-linked, Snyder-Robinson type, 309583 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SMPD1 Zornitza Stark gene: SMPD1 was added
gene: SMPD1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SMPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMPD1 were set to Niemann-Pick disease, type A, 257200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SMN1 Zornitza Stark gene: SMN1 was added
gene: SMN1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SMN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMN1 were set to Spinal muscular atrophy-1, 253300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SMARCAL1 Zornitza Stark gene: SMARCAL1 was added
gene: SMARCAL1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SMARCAL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMARCAL1 were set to Schimke immunoosseous dysplasia, 242900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC9A6 Zornitza Stark gene: SLC9A6 was added
gene: SLC9A6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC9A6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SLC9A6 were set to Mental retardation, X-linked syndromic, Christianson type
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC9A3 Zornitza Stark gene: SLC9A3 was added
gene: SLC9A3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC9A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC9A3 were set to Diarrhea 8, secretory sodium, congenital, 616868 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC7A7 Zornitza Stark gene: SLC7A7 was added
gene: SLC7A7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC7A7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC7A7 were set to Lysinuric protein intolerance, 222700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC6A8 Zornitza Stark gene: SLC6A8 was added
gene: SLC6A8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC6A8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SLC6A8 were set to Cerebral creatine deficiency syndrome 1, 300352 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC6A5 Zornitza Stark gene: SLC6A5 was added
gene: SLC6A5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC6A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC6A5 were set to Hyperekplexia 3, 614618 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC6A3 Zornitza Stark gene: SLC6A3 was added
gene: SLC6A3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC6A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC6A3 were set to Parkinsonism-dystonia, infantile, 613135 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC5A7 Zornitza Stark gene: SLC5A7 was added
gene: SLC5A7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC5A7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC5A7 were set to Myasthenic syndrome, congenital, 20, presynaptic, 617143 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC52A3 Zornitza Stark gene: SLC52A3 was added
gene: SLC52A3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC52A3 were set to Brown-Vialetto-Van Laere syndrome 1, 211530 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC52A2 Zornitza Stark gene: SLC52A2 was added
gene: SLC52A2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2, 614707 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC4A4 Zornitza Stark gene: SLC4A4 was added
gene: SLC4A4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC4A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC4A4 were set to Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC4A1 Zornitza Stark gene: SLC4A1 was added
gene: SLC4A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC4A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC4A1 were set to Renal tubular acidosis, distal, AR, 611590 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC46A1 Zornitza Stark gene: SLC46A1 was added
gene: SLC46A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC46A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC46A1 were set to Folate malabsorption, hereditary, 229050 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC45A2 Zornitza Stark gene: SLC45A2 was added
gene: SLC45A2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC45A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC45A2 were set to Albinism, oculocutaneous, type IV, 606574 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC39A8 Zornitza Stark gene: SLC39A8 was added
gene: SLC39A8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC39A8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC39A8 were set to Congenital disorder of glycosylation, type IIn, 616721 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC39A4 Zornitza Stark gene: SLC39A4 was added
gene: SLC39A4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC39A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC39A4 were set to Acrodermatitis enteropathica, 201100 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC39A14 Zornitza Stark gene: SLC39A14 was added
gene: SLC39A14 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC39A14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC39A14 were set to Hypermanganesemia with dystonia 2, 617013 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC38A8 Zornitza Stark gene: SLC38A8 was added
gene: SLC38A8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC38A8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC38A8 were set to Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC37A4 Zornitza Stark gene: SLC37A4 was added
gene: SLC37A4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC37A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC37A4 were set to Glycogen storage disease Ib, 232220 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC35D1 Zornitza Stark gene: SLC35D1 was added
gene: SLC35D1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC35D1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC35D1 were set to Schneckenbecken dysplasia, 269250 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC35A3 Zornitza Stark gene: SLC35A3 was added
gene: SLC35A3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC35A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC35A3 were set to ?Arthrogryposis, mental retardation, and seizures
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC33A1 Zornitza Stark gene: SLC33A1 was added
gene: SLC33A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC33A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC33A1 were set to Congenital cataracts, hearing loss, and neurodegeneration, 614482 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC30A10 Zornitza Stark gene: SLC30A10 was added
gene: SLC30A10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC30A10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC30A10 were set to Hypermanganesemia with dystonia, polycythemia, and cirrhosis, 613280 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC2A2 Zornitza Stark gene: SLC2A2 was added
gene: SLC2A2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC2A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC2A2 were set to Fanconi-Bickel syndrome, 227810 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC2A10 Zornitza Stark gene: SLC2A10 was added
gene: SLC2A10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC2A10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC2A10 were set to Arterial tortuosity syndrome, 208050 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC29A3 Zornitza Stark gene: SLC29A3 was added
gene: SLC29A3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC29A3 were set to Histiocytosis-lymphadenopathy plus syndrome, 602782 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC26A3 Zornitza Stark gene: SLC26A3 was added
gene: SLC26A3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC26A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC26A3 were set to Diarrhea 1, secretory chloride, congenital, 214700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC26A2 Zornitza Stark gene: SLC26A2 was added
gene: SLC26A2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC26A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC26A2 were set to Achondrogenesis Ib, 600972 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC25A46 Zornitza Stark gene: SLC25A46 was added
gene: SLC25A46 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC25A46 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A46 were set to Neuropathy, hereditary motor and sensory, type VIB, 616505 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC25A38 Zornitza Stark gene: SLC25A38 was added
gene: SLC25A38 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC25A38 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A38 were set to Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC25A22 Zornitza Stark gene: SLC25A22 was added
gene: SLC25A22 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC25A22 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A22 were set to Epileptic encephalopathy, early infantile, 3, 609304 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC25A19 Zornitza Stark gene: SLC25A19 was added
gene: SLC25A19 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC25A19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A19 were set to Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 (progressive polyneuropathy type), 613710
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC25A15 Zornitza Stark gene: SLC25A15 was added
gene: SLC25A15 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A15 were set to Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC25A13 Zornitza Stark gene: SLC25A13 was added
gene: SLC25A13 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC25A13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A13 were set to Citrullinemia, type II, neonatal-onset, 605814 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC25A1 Zornitza Stark gene: SLC25A1 was added
gene: SLC25A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC25A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A1 were set to Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC24A5 Zornitza Stark gene: SLC24A5 was added
gene: SLC24A5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC24A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC24A5 were set to Albinism, oculocutaneous, type VI, 113750 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC22A5 Zornitza Stark gene: SLC22A5 was added
gene: SLC22A5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC22A5 were set to Carnitine deficiency, systemic primary, 212140 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC1A4 Zornitza Stark gene: SLC1A4 was added
gene: SLC1A4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC1A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC1A4 were set to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC19A3 Zornitza Stark gene: SLC19A3 was added
gene: SLC19A3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC19A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC19A3 were set to Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), 607483 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC19A2 Zornitza Stark gene: SLC19A2 was added
gene: SLC19A2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC19A2 were set to Thiamine-responsive megaloblastic anemia syndrome, 249270 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC17A5 Zornitza Stark gene: SLC17A5 was added
gene: SLC17A5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC17A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC17A5 were set to Sialic acid storage disorder, infantile, 269920 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC16A2 Zornitza Stark gene: SLC16A2 was added
gene: SLC16A2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC16A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SLC16A2 were set to Allan-Herndon-Dudley syndrome
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC16A1 Zornitza Stark gene: SLC16A1 was added
gene: SLC16A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC16A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC16A1 were set to Monocarboxylate transporter 1 deficiency, 616095 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC13A5 Zornitza Stark gene: SLC13A5 was added
gene: SLC13A5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC13A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC13A5 were set to Epileptic encephalopathy, early infantile, 25, 615905 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC12A6 Zornitza Stark gene: SLC12A6 was added
gene: SLC12A6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC12A6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC12A6 were set to Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC12A5 Zornitza Stark gene: SLC12A5 was added
gene: SLC12A5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC12A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC12A5 were set to Epileptic encephalopathy, early infantile, 34, 616645 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC12A1 Zornitza Stark gene: SLC12A1 was added
gene: SLC12A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC12A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC12A1 were set to Bartter syndrome, type 1, 601678 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SKIV2L Zornitza Stark gene: SKIV2L was added
gene: SKIV2L was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SKIV2L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SKIV2L were set to Trichohepatoenteric syndrome 2, 614602 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SIL1 Zornitza Stark gene: SIL1 was added
gene: SIL1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SIL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SIL1 were set to Marinesco-Sjogren syndrome, 248800 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SHOX Zornitza Stark gene: SHOX was added
gene: SHOX was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SHOX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SHOX were set to Langer mesomelic dysplasia, 249700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SH3TC2 Zornitza Stark gene: SH3TC2 was added
gene: SH3TC2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SH3TC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SH3TC2 were set to Charcot-Marie-Tooth disease, type 4C, 601596 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SH3PXD2B Zornitza Stark gene: SH3PXD2B was added
gene: SH3PXD2B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SH3PXD2B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SH3PXD2B were set to Frank-ter Haar syndrome, 249420 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SH2D1A Zornitza Stark gene: SH2D1A was added
gene: SH2D1A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SH2D1A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SH2D1A were set to Lymphoproliferative syndrome, X-linked, 1, 308240 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SGSH Zornitza Stark gene: SGSH was added
gene: SGSH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SGSH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGSH were set to Mucopolysaccharidisis type IIIA (Sanfilippo A), 252900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SGPL1 Zornitza Stark gene: SGPL1 was added
gene: SGPL1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SGPL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGPL1 were set to Nephrotic syndrome 14, 617575 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SGO1 Zornitza Stark gene: SGO1 was added
gene: SGO1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SGO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGO1 were set to Chronic atrial and intestinal dysrhythmia, 616201 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SGCG Zornitza Stark gene: SGCG was added
gene: SGCG was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SGCG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGCG were set to Muscular dystrophy, limb-girdle, type 2C, 253700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SGCD Zornitza Stark gene: SGCD was added
gene: SGCD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SGCD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGCD were set to Muscular dystrophy, limb-girdle, type 2F, 601287 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SGCB Zornitza Stark gene: SGCB was added
gene: SGCB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SGCB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGCB were set to Muscular dystrophy, limb-girdle, type 2E, 604286 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SGCA Zornitza Stark gene: SGCA was added
gene: SGCA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SGCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGCA were set to Muscular dystrophy, limb-girdle, type 2D, 608099 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SFTPB Zornitza Stark gene: SFTPB was added
gene: SFTPB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SFTPB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SFTPB were set to Surfactant metabolism dysfunction, pulmonary, 1, 265120 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SETX Zornitza Stark gene: SETX was added
gene: SETX was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SETX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SETX were set to Spinocerebellar ataxia, autosomal recessive 1, 606002 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SERPINH1 Zornitza Stark gene: SERPINH1 was added
gene: SERPINH1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SERPINH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SERPINH1 were set to Orofaciodigital syndrome VI, 277170 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SERPINF1 Zornitza Stark gene: SERPINF1 was added
gene: SERPINF1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SERPINF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SERPINF1 were set to Osteogenesis imperfecta, type VI, 613982 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SERPINA1 Zornitza Stark gene: SERPINA1 was added
gene: SERPINA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SERPINA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SERPINA1 were set to Emphysema-cirrhosis, due to AAT deficiency, 613490 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SERAC1 Zornitza Stark gene: SERAC1 was added
gene: SERAC1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SERAC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SERAC1 were set to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SEPSECS Zornitza Stark gene: SEPSECS was added
gene: SEPSECS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SEPSECS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SEPSECS were set to Pontocerebellar hypoplasia type 2D, 613811 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SEMA4A Zornitza Stark gene: SEMA4A was added
gene: SEMA4A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SEMA4A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SEMA4A were set to Cone-rod dystrophy 10, 610283 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SELENON Zornitza Stark gene: SELENON was added
gene: SELENON was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SELENON was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SELENON were set to Muscular dystrophy, rigid spine, 1, 602771 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SEC23B Zornitza Stark gene: SEC23B was added
gene: SEC23B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SEC23B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SEC23B were set to Dyserythropoietic anemia, congenital, type II, 224100 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SEC23A Zornitza Stark gene: SEC23A was added
gene: SEC23A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SEC23A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SEC23A were set to Craniolenticulosutural dysplasia, 607812 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SDHAF1 Zornitza Stark gene: SDHAF1 was added
gene: SDHAF1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SDHAF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SDHAF1 were set to Mitochondrial complex II deficiency, 252011 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SDCCAG8 Zornitza Stark gene: SDCCAG8 was added
gene: SDCCAG8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SDCCAG8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SDCCAG8 were set to Bardet-Biedl syndrome 16, 615993 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SCYL1 Zornitza Stark gene: SCYL1 was added
gene: SCYL1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SCYL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCYL1 were set to Spinocerebellar ataxia, autosomal recessive 21, 616719 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SCO2 Zornitza Stark gene: SCO2 was added
gene: SCO2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCO2 were set to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SCNN1B Zornitza Stark gene: SCNN1B was added
gene: SCNN1B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SCNN1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCNN1B were set to Pseudohypoaldosteronism, type I, 264350 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SCNN1A Zornitza Stark gene: SCNN1A was added
gene: SCNN1A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SCNN1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCNN1A were set to Pseudohypoaldosteronism, type I, 264350 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SCN9A Zornitza Stark gene: SCN9A was added
gene: SCN9A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SCN9A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCN9A were set to Insensitivity to pain, congenital, 243000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SCARF2 Zornitza Stark gene: SCARF2 was added
gene: SCARF2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SCARF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCARF2 were set to Van den Ende-Gupta syndrome, 600920 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SCARB2 Zornitza Stark gene: SCARB2 was added
gene: SCARB2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SCARB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCARB2 were set to Epilepsy, progressive myoclonic 4, with or without renal failure, 254900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SC5D Zornitza Stark gene: SC5D was added
gene: SC5D was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SC5D was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SC5D were set to Lathosterolosis, 607330 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SBF2 Zornitza Stark gene: SBF2 was added
gene: SBF2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SBF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SBF2 were set to Charcot-Marie-Tooth disease, type 4B2, 604563 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SBDS Zornitza Stark gene: SBDS was added
gene: SBDS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SBDS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SBDS were set to Shwachman-Diamond syndrome, 260400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SARS2 Zornitza Stark gene: SARS2 was added
gene: SARS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SARS2 were set to Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SAR1B Zornitza Stark gene: SAR1B was added
gene: SAR1B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SAR1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SAR1B were set to Chylomicron retention disease, 246700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SAMHD1 Zornitza Stark gene: SAMHD1 was added
gene: SAMHD1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SAMHD1 were set to Aicardi-Goutieres syndrome 5, 612952 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SAMD9 Zornitza Stark gene: SAMD9 was added
gene: SAMD9 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SAMD9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SAMD9 were set to Tumoral calcinosis, familial, normophosphatemic, 610455 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SACS Zornitza Stark gene: SACS was added
gene: SACS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SACS were set to Spastic ataxia, Charlevoix-Saguenay type, 270550 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RYR1 Zornitza Stark gene: RYR1 was added
gene: RYR1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RYR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RYR1 were set to Minicore myopathy with external ophthalmoplegia, 255320 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TMEM5 Zornitza Stark gene: TMEM5 was added
gene: TMEM5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TMEM5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM5 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, 615041 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RTTN Zornitza Stark gene: RTTN was added
gene: RTTN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RTTN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RTTN were set to Polymicrogyria with seizures, 614833 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RTN4IP1 Zornitza Stark gene: RTN4IP1 was added
gene: RTN4IP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RTN4IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RTN4IP1 were set to Optic atrophy 10 with or without ataxia, mental retardation, and seizures, 616732 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RTEL1 Zornitza Stark gene: RTEL1 was added
gene: RTEL1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RTEL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RTEL1 were set to Dyskeratosis congenita, autosomal recessive 5, 615190 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RSPH9 Zornitza Stark gene: RSPH9 was added
gene: RSPH9 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RSPH9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RSPH9 were set to Ciliary dyskinesia, primary, 12, 612650 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RSPH4A Zornitza Stark gene: RSPH4A was added
gene: RSPH4A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RSPH4A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RSPH4A were set to Ciliary dyskinesia, primary, 11, 612649 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RSPH1 Zornitza Stark gene: RSPH1 was added
gene: RSPH1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RSPH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RSPH1 were set to Ciliary dyskinesia, primary, 24, 615481 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RRM2B Zornitza Stark gene: RRM2B was added
gene: RRM2B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RRM2B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RRM2B were set to Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RPS6KA3 Zornitza Stark gene: RPS6KA3 was added
gene: RPS6KA3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RPS6KA3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: RPS6KA3 were set to Coffin-Lowry syndrome
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RPL10 Zornitza Stark gene: RPL10 was added
gene: RPL10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RPL10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: RPL10 were set to Mental retardation, X-linked, syndromic, 35
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RPGRIP1L Zornitza Stark gene: RPGRIP1L was added
gene: RPGRIP1L was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RPGRIP1L were set to Meckel syndrome 5, 611561 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RPGRIP1 Zornitza Stark gene: RPGRIP1 was added
gene: RPGRIP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RPGRIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RPGRIP1 were set to Cone-rod dystrophy 13, 608194 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RPGR Zornitza Stark gene: RPGR was added
gene: RPGR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RPGR was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: RPGR were set to Macular degeneration, X-linked atrophic, 300834 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RPE65 Zornitza Stark gene: RPE65 was added
gene: RPE65 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RPE65 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RPE65 were set to Leber congenital amaurosis 2, 204100 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RP2 Zornitza Stark gene: RP2 was added
gene: RP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: RP2 were set to Retinitis pigmentosa 2, 312600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RORC Zornitza Stark gene: RORC was added
gene: RORC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RORC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RORC were set to Immunodeficiency 42, 616622 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ROR2 Zornitza Stark gene: ROR2 was added
gene: ROR2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ROR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ROR2 were set to Robinow syndrome, autosomal recessive, 268310 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ROGDI Zornitza Stark gene: ROGDI was added
gene: ROGDI was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ROGDI was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ROGDI were set to Kohlschutter-Tonz syndrome, 226750 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ROBO3 Zornitza Stark gene: ROBO3 was added
gene: ROBO3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ROBO3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ROBO3 were set to Gaze palsy, horizontal, with progressive scoliosis, 607313 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RNU4ATAC Zornitza Stark gene: RNU4ATAC was added
gene: RNU4ATAC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RNU4ATAC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNU4ATAC were set to Microcephalic osteodysplastic primordial dwarfism, type I, 210710 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RNASET2 Zornitza Stark gene: RNASET2 was added
gene: RNASET2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RNASET2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASET2 were set to Leukoencephalopathy, cystic, without megalencephaly, 612951 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RNASEH2C Zornitza Stark gene: RNASEH2C was added
gene: RNASEH2C was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RNASEH2C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASEH2C were set to Aicardi-Goutieres syndrome 3, 610329 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RNASEH2B Zornitza Stark gene: RNASEH2B was added
gene: RNASEH2B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASEH2B were set to Aicardi-Goutieres syndrome 2, 610181 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RNASEH2A Zornitza Stark gene: RNASEH2A was added
gene: RNASEH2A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RNASEH2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASEH2A were set to Aicardi-Goutieres syndrome 4, 610333 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RMRP Zornitza Stark gene: RMRP was added
gene: RMRP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RMRP were set to Cartilage-hair hypoplasia, 250250 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RMND1 Zornitza Stark gene: RMND1 was added
gene: RMND1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RMND1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RMND1 were set to Combined oxidative phosphorylation deficiency 11, 614922 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RLIM Zornitza Stark gene: RLIM was added
gene: RLIM was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RLIM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: RLIM were set to Mental retardation, X-linked 61, 300978 (3), X-linked recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RIPK4 Zornitza Stark gene: RIPK4 was added
gene: RIPK4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RIPK4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RIPK4 were set to Popliteal pterygium syndrome 2, lethal type, 263650 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RIN2 Zornitza Stark gene: RIN2 was added
gene: RIN2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RIN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RIN2 were set to Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RFXAP Zornitza Stark gene: RFXAP was added
gene: RFXAP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RFXAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RFXAP were set to Bare lymphocyte syndrome, type II, complementation group D, 209920 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RFXANK Zornitza Stark gene: RFXANK was added
gene: RFXANK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RFXANK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RFXANK were set to MHC class II deficiency, complementation group B, 209920 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RFX6 Zornitza Stark gene: RFX6 was added
gene: RFX6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RFX6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RFX6 were set to Mitchell-Riley syndrome, 615710 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RFT1 Zornitza Stark gene: RFT1 was added
gene: RFT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RFT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RFT1 were set to Congenital disorder of glycosylation, type In, 612015 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RETREG1 Zornitza Stark gene: RETREG1 was added
gene: RETREG1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RETREG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RETREG1 were set to Neuropathy, hereditary sensory and autonomic, type IIB, 613115 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 REN Zornitza Stark gene: REN was added
gene: REN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: REN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: REN were set to Renal tubular dysgenesis, 267430 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 REEP6 Zornitza Stark gene: REEP6 was added
gene: REEP6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: REEP6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: REEP6 were set to Retinitis pigmentosa 77, 617304 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RECQL4 Zornitza Stark gene: RECQL4 was added
gene: RECQL4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RECQL4 were set to Baller-Gerold syndrome, 218600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RDH12 Zornitza Stark gene: RDH12 was added
gene: RDH12 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RDH12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RDH12 were set to Leber congenital amaurosis 13, 612712 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RD3 Zornitza Stark gene: RD3 was added
gene: RD3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RD3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RD3 were set to Leber congenital amaurosis 12, 610612 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RCBTB1 Zornitza Stark gene: RCBTB1 was added
gene: RCBTB1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RCBTB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RCBTB1 were set to Retinal dystrophy with or without extraocular anomalies, 617175 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RBM10 Zornitza Stark gene: RBM10 was added
gene: RBM10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RBM10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: RBM10 were set to TARP syndrome, 311900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RBCK1 Zornitza Stark gene: RBCK1 was added
gene: RBCK1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RBCK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RBCK1 were set to Polyglucosan body myopathy 1 with or without immunodeficiency, 615895 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RBBP8 Zornitza Stark gene: RBBP8 was added
gene: RBBP8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RBBP8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RBBP8 were set to Seckel syndrome 2, 606744 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RAX Zornitza Stark gene: RAX was added
gene: RAX was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAX were set to Microphthalmia, isolated 3, 611038 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RARS2 Zornitza Stark gene: RARS2 was added
gene: RARS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RARS2 were set to Pontocerebellar hypoplasia, type 6, 611523 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RARS Zornitza Stark gene: RARS was added
gene: RARS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RARS were set to Leukodystrophy, hypomyelinating, 9, 616140 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RARB Zornitza Stark gene: RARB was added
gene: RARB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RARB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RARB were set to Microphthalmia, syndromic 12, 615524 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RAPSN Zornitza Stark gene: RAPSN was added
gene: RAPSN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAPSN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAPSN were set to Fetal akinesia deformation sequence, 208150 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RAG2 Zornitza Stark gene: RAG2 was added
gene: RAG2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAG2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAG2 were set to Severe combined immunodeficiency, B cell-negative, 601457 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RAG1 Zornitza Stark gene: RAG1 was added
gene: RAG1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAG1 were set to Severe combined immunodeficiency, B cell-negative, 601457 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RAD50 Zornitza Stark gene: RAD50 was added
gene: RAD50 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAD50 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAD50 were set to Nijmegen breakage syndrome-like disorder, 613078 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RAB3GAP2 Zornitza Stark gene: RAB3GAP2 was added
gene: RAB3GAP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAB3GAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB3GAP2 were set to Warburg micro syndrome 2, 614225 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RAB3GAP1 Zornitza Stark gene: RAB3GAP1 was added
gene: RAB3GAP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAB3GAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB3GAP1 were set to Warburg micro syndrome 1, 600118 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RAB39B Zornitza Stark gene: RAB39B was added
gene: RAB39B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAB39B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: RAB39B were set to Mental retardation, X-linked 72, 300271 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RAB33B Zornitza Stark gene: RAB33B was added
gene: RAB33B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAB33B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB33B were set to Smith-McCort dysplasia 2, 615222 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RAB27A Zornitza Stark gene: RAB27A was added
gene: RAB27A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAB27A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB27A were set to Griscelli syndrome, type 2, 607624 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RAB23 Zornitza Stark gene: RAB23 was added
gene: RAB23 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAB23 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB23 were set to Carpenter syndrome, 201000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RAB18 Zornitza Stark gene: RAB18 was added
gene: RAB18 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAB18 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB18 were set to Warburg micro syndrome 3, 614222 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 QDPR Zornitza Stark gene: QDPR was added
gene: QDPR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: QDPR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: QDPR were set to Hyperphenylalaninemia, BH4-deficient, C, 261630 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 QARS Zornitza Stark gene: QARS was added
gene: QARS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: QARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: QARS were set to Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PYROXD1 Zornitza Stark gene: PYROXD1 was added
gene: PYROXD1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PYROXD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PYROXD1 were set to Myopathy, myofibrillar, 8, 617258 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PYCR2 Zornitza Stark gene: PYCR2 was added
gene: PYCR2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PYCR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PYCR2 were set to Leukodystrophy, hypomyelinating, 10, 616420 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PYCR1 Zornitza Stark gene: PYCR1 was added
gene: PYCR1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PYCR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PYCR1 were set to Cutis laxa, autosomal recessive, type IIB, 612940 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PXDN Zornitza Stark gene: PXDN was added
gene: PXDN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PXDN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PXDN were set to Corneal opacification and other ocular anomalies, 269400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PUS1 Zornitza Stark gene: PUS1 was added
gene: PUS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PUS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PUS1 were set to Mitochondrial myopathy and sideroblastic anemia 1, 600462 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PTS Zornitza Stark gene: PTS was added
gene: PTS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PTS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PTS were set to Hyperphenylalaninemia, BH4-deficient, A, 261640 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PTH1R Zornitza Stark gene: PTH1R was added
gene: PTH1R was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PTH1R was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PTH1R were set to Chondrodysplasia, Blomstrand type, 215045 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PSPH Zornitza Stark gene: PSPH was added
gene: PSPH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PSPH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSPH were set to Phosphoserine phosphatase deficiency, 614023 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PSMB8 Zornitza Stark gene: PSMB8 was added
gene: PSMB8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PSMB8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSMB8 were set to Autoinflammation, lipodystrophy, and dermatosis syndrome, 256040 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PSAT1 Zornitza Stark gene: PSAT1 was added
gene: PSAT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSAT1 were set to Neu-Laxova syndrome 2, 616038 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PSAP Zornitza Stark gene: PSAP was added
gene: PSAP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PSAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSAP were set to Metachromatic leukodystrophy due to SAP-b deficiency, 249900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PRX Zornitza Stark gene: PRX was added
gene: PRX was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PRX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRX were set to Dejerine-Sottas disease, 145900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PRUNE1 Zornitza Stark gene: PRUNE1 was added
gene: PRUNE1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PRUNE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRUNE1 were set to Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, 617481 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PRPS1 Zornitza Stark gene: PRPS1 was added
gene: PRPS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PRPS1 were set to Arts syndrome, 301835 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PROS1 Zornitza Stark gene: PROS1 was added
gene: PROS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PROS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PROS1 were set to Thrombophilia due to protein S deficiency, autosomal recessive, 614514 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PROP1 Zornitza Stark gene: PROP1 was added
gene: PROP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PROP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PROP1 were set to Pituitary hormone deficiency, combined, 2, 262600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PROC Zornitza Stark gene: PROC was added
gene: PROC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PROC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PROC were set to Thrombophilia due to protein C deficiency, autosomal recessive, 612304 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PRICKLE1 Zornitza Stark gene: PRICKLE1 was added
gene: PRICKLE1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PRICKLE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRICKLE1 were set to Epilepsy, progressive myoclonic 1B, 612437 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PRG4 Zornitza Stark gene: PRG4 was added
gene: PRG4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PRG4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRG4 were set to Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PRF1 Zornitza Stark gene: PRF1 was added
gene: PRF1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PRF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRF1 were set to Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PRDM5 Zornitza Stark gene: PRDM5 was added
gene: PRDM5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PRDM5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRDM5 were set to Brittle cornea syndrome 2, 614170 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PRDM12 Zornitza Stark gene: PRDM12 was added
gene: PRDM12 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PRDM12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRDM12 were set to Neuropathy, hereditary sensory and autonomic, type VIII, 616488 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PQBP1 Zornitza Stark gene: PQBP1 was added
gene: PQBP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PQBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PQBP1 were set to Renpenning syndrome, 309500 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PPT1 Zornitza Stark gene: PPT1 was added
gene: PPT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PPT1 were set to Ceroid lipofuscinosis, neuronal, 1, 256730 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PPA2 Zornitza Stark gene: PPA2 was added
gene: PPA2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PPA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PPA2 were set to Sudden cardiac failure, infantile, 617222 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 POU1F1 Zornitza Stark gene: POU1F1 was added
gene: POU1F1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POU1F1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POU1F1 were set to Pituitary hormone deficiency, combined, 1, 613038 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 POR Zornitza Stark gene: POR was added
gene: POR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POR were set to Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 POP1 Zornitza Stark gene: POP1 was added
gene: POP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POP1 were set to Anauxetic dysplasia 2, 617396 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 POMT2 Zornitza Stark gene: POMT2 was added
gene: POMT2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POMT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 POMT1 Zornitza Stark gene: POMT1 was added
gene: POMT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POMT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 POMP Zornitza Stark gene: POMP was added
gene: POMP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POMP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMP were set to Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, 601952 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 POMK Zornitza Stark gene: POMK was added
gene: POMK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POMK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMK were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 POMGNT2 Zornitza Stark gene: POMGNT2 was added
gene: POMGNT2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POMGNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMGNT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 POMGNT1 Zornitza Stark gene: POMGNT1 was added
gene: POMGNT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMGNT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 POMC Zornitza Stark gene: POMC was added
gene: POMC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POMC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMC were set to Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 POLR3B Zornitza Stark gene: POLR3B was added
gene: POLR3B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POLR3B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLR3B were set to Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 POLR3A Zornitza Stark gene: POLR3A was added
gene: POLR3A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLR3A were set to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 POLR1C Zornitza Stark gene: POLR1C was added
gene: POLR1C was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POLR1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLR1C were set to Treacher Collins syndrome 3, 248390 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 POLG Zornitza Stark gene: POLG was added
gene: POLG was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLG were set to Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 POLA1 Zornitza Stark gene: POLA1 was added
gene: POLA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POLA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: POLA1 were set to Pigmentary disorder, reticulate, with systemic manifestations, X-linked, 301220 (3), X-linked recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 POC1A Zornitza Stark gene: POC1A was added
gene: POC1A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POC1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POC1A were set to Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PNPO Zornitza Stark gene: PNPO was added
gene: PNPO was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PNPO was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNPO were set to Pyridoxamine 5'-phosphate oxidase deficiency, 610090 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PNPLA6 Zornitza Stark gene: PNPLA6 was added
gene: PNPLA6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNPLA6 were set to Boucher-Neuhauser syndrome, 215470 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PNP Zornitza Stark gene: PNP was added
gene: PNP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PNP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNP were set to Immunodeficiency due to purine nucleoside phosphorylase deficiency, 613179 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PNKP Zornitza Stark gene: PNKP was added
gene: PNKP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNKP were set to Microcephaly, seizures, and developmental delay, 613402 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PMPCA Zornitza Stark gene: PMPCA was added
gene: PMPCA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PMPCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PMPCA were set to Spinocerebellar ataxia, autosomal recessive 2, 213200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PMM2 Zornitza Stark gene: PMM2 was added
gene: PMM2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PMM2 were set to Congenital disorder of glycosylation, type Ia, 212065 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PLPBP Zornitza Stark gene: PLPBP was added
gene: PLPBP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PLPBP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLPBP were set to Epilepsy, early-onset, vitamin B6-dependent, 617290 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PLP1 Zornitza Stark gene: PLP1 was added
gene: PLP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PLP1 were set to Pelizaeus-Merzbacher disease, 312080 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PLOD2 Zornitza Stark gene: PLOD2 was added
gene: PLOD2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PLOD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLOD2 were set to Bruck syndrome 2, 609220 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PLOD1 Zornitza Stark gene: PLOD1 was added
gene: PLOD1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PLOD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLOD1 were set to Ehlers-Danlos syndrome, type VI, 225400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PLG Zornitza Stark gene: PLG was added
gene: PLG was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PLG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLG were set to Plasminogen deficiency, type I, 217090 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PLEC Zornitza Stark gene: PLEC was added
gene: PLEC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PLEC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLEC were set to Epidermolysis bullosa simplex with pyloric atresia, 612138 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PLCE1 Zornitza Stark gene: PLCE1 was added
gene: PLCE1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PLCE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLCE1 were set to Nephrotic syndrome, type 3, 610725 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PLAA Zornitza Stark gene: PLAA was added
gene: PLAA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PLAA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLAA were set to Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, 617527 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PLA2G6 Zornitza Stark gene: PLA2G6 was added
gene: PLA2G6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLA2G6 were set to Neurodegeneration with brain iron accumulation 2B, 610217 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PKLR Zornitza Stark gene: PKLR was added
gene: PKLR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PKLR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PKLR were set to Pyruvate kinase deficiency, 266200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PKHD1 Zornitza Stark gene: PKHD1 was added
gene: PKHD1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PKHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PKHD1 were set to Polycystic kidney and hepatic disease, 263200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PIP5K1C Zornitza Stark gene: PIP5K1C was added
gene: PIP5K1C was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PIP5K1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIP5K1C were set to Lethal congenital contractural syndrome 3, 611369 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PIH1D3 Zornitza Stark gene: PIH1D3 was added
gene: PIH1D3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PIH1D3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PIH1D3 were set to Ciliary dyskinesia, primary, 36, X-linked, 300991 (3), X-linked recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PIGV Zornitza Stark gene: PIGV was added
gene: PIGV was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PIGV was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIGV were set to Hyperphosphatasia with mental retardation syndrome 1, 239300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PIGT Zornitza Stark gene: PIGT was added
gene: PIGT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PIGT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIGT were set to Multiple congenital anomalies-hypotonia-seizures syndrome 3
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PIGO Zornitza Stark gene: PIGO was added
gene: PIGO was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PIGO was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIGO were set to Hyperphosphatasia with mental retardation syndrome 2, 614749 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PIGN Zornitza Stark gene: PIGN was added
gene: PIGN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PIGN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIGN were set to Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PIGL Zornitza Stark gene: PIGL was added
gene: PIGL was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PIGL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIGL were set to CHIME syndrome, 280000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PIGG Zornitza Stark gene: PIGG was added
gene: PIGG was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PIGG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIGG were set to Mental retardation, autosomal recessive 53, 616917 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PIGA Zornitza Stark gene: PIGA was added
gene: PIGA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PIGA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PIGA were set to Multiple congenital anomalies-hypotonia-seizures syndrome 2, 300868 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PIEZO2 Zornitza Stark gene: PIEZO2 was added
gene: PIEZO2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PIEZO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIEZO2 were set to Arthrogryposis, distal, with impaired proprioception and touch, 617146 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PHYH Zornitza Stark gene: PHYH was added
gene: PHYH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PHYH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PHYH were set to Refsum disease, 266500 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PHGDH Zornitza Stark gene: PHGDH was added
gene: PHGDH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PHGDH were set to Neu-Laxova syndrome1, 256520 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PHF8 Zornitza Stark gene: PHF8 was added
gene: PHF8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PHF8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PHF8 were set to Mental retardation syndrome, X-linked, Siderius type, 300263 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PHF6 Zornitza Stark gene: PHF6 was added
gene: PHF6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PHF6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PHF6 were set to Borjeson-Forssman-Lehmann syndrome, 301900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PGM3 Zornitza Stark gene: PGM3 was added
gene: PGM3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PGM3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PGM3 were set to Immunodeficiency 23, 615816 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PGM1 Zornitza Stark gene: PGM1 was added
gene: PGM1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PGM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PGM1 were set to Congenital disorder of glycosylation, type It, 614921 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PGK1 Zornitza Stark gene: PGK1 was added
gene: PGK1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PGK1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PGK1 were set to Phosphoglycerate kinase 1 deficiency, 300653 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PGAP3 Zornitza Stark gene: PGAP3 was added
gene: PGAP3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PGAP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PGAP3 were set to Hyperphosphatasia with mental retardation syndrome 4, 615716 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PGAP2 Zornitza Stark gene: PGAP2 was added
gene: PGAP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PGAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PGAP2 were set to Hyperphosphatasia with mental retardation syndrome 3, 614207 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PGAP1 Zornitza Stark gene: PGAP1 was added
gene: PGAP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PGAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PGAP1 were set to Mental retardation, autosomal recessive 42, 615802 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PFKM Zornitza Stark gene: PFKM was added
gene: PFKM was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PFKM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PFKM were set to Glycogen storage disease VII, 232800 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PEX7 Zornitza Stark gene: PEX7 was added
gene: PEX7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX7 were set to Chondrodysplasia punctata, rhizomelic, type 1, 215100 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PEX6 Zornitza Stark gene: PEX6 was added
gene: PEX6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX6 were set to Peroxisome biogenesis disorder 4A (Zellweger), 614862
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PEX5 Zornitza Stark gene: PEX5 was added
gene: PEX5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX5 were set to Peroxisome biogenesis disorder 2A (Zellweger), 214110
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PEX3 Zornitza Stark gene: PEX3 was added
gene: PEX3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX3 were set to Peroxisome biogenesis disorder 10A (Zellweger), 614882
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PEX26 Zornitza Stark gene: PEX26 was added
gene: PEX26 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX26 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX26 were set to Peroxisome biogenesis disorder 7A (Zellweger), 614872
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PEX2 Zornitza Stark gene: PEX2 was added
gene: PEX2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX2 were set to Peroxisome biogenesis disorder 5A (Zellweger), 614866
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PEX16 Zornitza Stark gene: PEX16 was added
gene: PEX16 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX16 were set to Peroxisome biogenesis disorder 8A, (Zellweger), 614876
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PEX13 Zornitza Stark gene: PEX13 was added
gene: PEX13 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX13 were set to Peroxisome biogenesis disorder 11A (Zellweger), 614883
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PEX12 Zornitza Stark gene: PEX12 was added
gene: PEX12 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX12 were set to Peroxisome biogenesis disorder 3A (Zellweger), 614859
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PEX11B Zornitza Stark gene: PEX11B was added
gene: PEX11B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX11B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX11B were set to Peroxisome biogenesis disorder 14B, 614920 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PEX10 Zornitza Stark gene: PEX10 was added
gene: PEX10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX10 were set to Peroxisome biogenesis disorder 6A (Zellweger), 614870
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PEX1 Zornitza Stark gene: PEX1 was added
gene: PEX1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX1 were set to Peroxisome biogenesis disorder 1A (Zellweger), 214100
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PET100 Zornitza Stark gene: PET100 was added
gene: PET100 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PET100 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PET100 were set to Mitochondrial complex IV deficiency, 220110 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PEPD Zornitza Stark gene: PEPD was added
gene: PEPD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEPD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEPD were set to Prolidase deficiency, 170100 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PDP1 Zornitza Stark gene: PDP1 was added
gene: PDP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PDP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDP1 were set to Pyruvate dehydrogenase phosphatase deficiency, 608782 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PDHB Zornitza Stark gene: PDHB was added
gene: PDHB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PDHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDHB were set to Pyruvate dehydrogenase E1-beta deficiency, 614111 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PDHA1 Zornitza Stark gene: PDHA1 was added
gene: PDHA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PDHA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PDHA1 were set to Pyruvate dehydrogenase E1-alpha deficiency
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PDE6C Zornitza Stark gene: PDE6C was added
gene: PDE6C was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PDE6C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDE6C were set to Cone dystrophy 4, 613093 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PDE6B Zornitza Stark gene: PDE6B was added
gene: PDE6B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PDE6B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDE6B were set to Retinitis pigmentosa-40, 613801 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PCYT1A Zornitza Stark gene: PCYT1A was added
gene: PCYT1A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PCYT1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCYT1A were set to Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PCSK1 Zornitza Stark gene: PCSK1 was added
gene: PCSK1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PCSK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCSK1 were set to Obesity with impaired prohormone processing, 600955 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PCNT Zornitza Stark gene: PCNT was added
gene: PCNT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PCNT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCNT were set to Microcephalic osteodysplastic primordial dwarfism, type II, 210720 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PCDH15 Zornitza Stark gene: PCDH15 was added
gene: PCDH15 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PCDH15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCDH15 were set to Usher syndrome, type 1F, 602083 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PCDH12 Zornitza Stark gene: PCDH12 was added
gene: PCDH12 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PCDH12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCDH12 were set to Microcephaly, seizures, spasticity, and brain calcification, 251280 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PCCB Zornitza Stark gene: PCCB was added
gene: PCCB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCCB were set to Propionicacidemia, 606054 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PCCA Zornitza Stark gene: PCCA was added
gene: PCCA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCCA were set to Propionicacidemia, 606054 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PC Zornitza Stark gene: PC was added
gene: PC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PC were set to Pyruvate carboxylase deficiency, 266150 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PAPSS2 Zornitza Stark gene: PAPSS2 was added
gene: PAPSS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PAPSS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PAPSS2 were set to Brachyolmia 4 with mild epiphyseal and metaphyseal changes, 612847 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PANK2 Zornitza Stark gene: PANK2 was added
gene: PANK2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PANK2 were set to Neurodegeneration with brain iron accumulation 1, 234200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PAK3 Zornitza Stark gene: PAK3 was added
gene: PAK3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PAK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PAK3 were set to Mental retardation, X-linked 30/47, 300558 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PAH Zornitza Stark gene: PAH was added
gene: PAH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PAH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PAH were set to Phenylketonuria, 261600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 P3H1 Zornitza Stark gene: P3H1 was added
gene: P3H1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: P3H1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: P3H1 were set to Osteogenesis imperfecta, type VIII, 610915 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 OTUD6B Zornitza Stark gene: OTUD6B was added
gene: OTUD6B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OTUD6B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OTUD6B were set to Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, 617452 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 OTC Zornitza Stark gene: OTC was added
gene: OTC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OTC was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: OTC were set to Ornithine transcarbamylase deficiency, 311250 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 OSTM1 Zornitza Stark gene: OSTM1 was added
gene: OSTM1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OSTM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OSTM1 were set to Osteopetrosis, autosomal recessive 5, 259720 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 OSGEP Zornitza Stark gene: OSGEP was added
gene: OSGEP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OSGEP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OSGEP were set to Galloway-Mowat syndrome 3, 617729 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ORC6 Zornitza Stark gene: ORC6 was added
gene: ORC6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ORC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ORC6 were set to Meier-Gorlin syndrome 3, 613803 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ORC1 Zornitza Stark gene: ORC1 was added
gene: ORC1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ORC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ORC1 were set to Meier-Gorlin syndrome 1, 224690 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ORAI1 Zornitza Stark gene: ORAI1 was added
gene: ORAI1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ORAI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ORAI1 were set to Immunodeficiency 9, 612782 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 OPN1LW Zornitza Stark gene: OPN1LW was added
gene: OPN1LW was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OPN1LW was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: OPN1LW were set to Blue cone monochromacy, 303700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 OPHN1 Zornitza Stark gene: OPHN1 was added
gene: OPHN1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OPHN1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: OPHN1 were set to Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 OPA3 Zornitza Stark gene: OPA3 was added
gene: OPA3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OPA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OPA3 were set to 3-methylglutaconic aciduria, type III, 258501 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 OPA1 Zornitza Stark gene: OPA1 was added
gene: OPA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OPA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OPA1 were set to Behr syndrome, 210000 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 OFD1 Zornitza Stark gene: OFD1 was added
gene: OFD1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OFD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: OFD1 were set to Joubert syndrome 10, 300804 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 OCRL Zornitza Stark gene: OCRL was added
gene: OCRL was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: OCRL were set to Lowe syndrome, 309000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 OCLN Zornitza Stark gene: OCLN was added
gene: OCLN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OCLN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OCLN were set to Band-like calcification with simplified gyration and polymicrogyria, 251290 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 OCA2 Zornitza Stark gene: OCA2 was added
gene: OCA2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OCA2 were set to Albinism, brown oculocutaneous, 203200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 OBSL1 Zornitza Stark gene: OBSL1 was added
gene: OBSL1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OBSL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OBSL1 were set to 3-M syndrome 2, 612921 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NYX Zornitza Stark gene: NYX was added
gene: NYX was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NYX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NYX were set to Night blindness, congenital stationary (complete), 1A, X-linked, 310500 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NUP93 Zornitza Stark gene: NUP93 was added
gene: NUP93 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NUP93 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NUP93 were set to Nephrotic syndrome, type 12, 616892 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NUP62 Zornitza Stark gene: NUP62 was added
gene: NUP62 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NUP62 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NUP62 were set to Striatonigral degeneration, infantile, 271930 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NUP107 Zornitza Stark gene: NUP107 was added
gene: NUP107 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NUP107 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NUP107 were set to Nephrotic syndrome, type 11, 616730 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NUBPL Zornitza Stark gene: NUBPL was added
gene: NUBPL was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NUBPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NUBPL were set to Mitochondrial complex I deficiency, 252010 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NTRK1 Zornitza Stark gene: NTRK1 was added
gene: NTRK1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NTRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NTRK1 were set to Insensitivity to pain, congenital, with anhidrosis, 256800 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NT5C2 Zornitza Stark gene: NT5C2 was added
gene: NT5C2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NT5C2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NT5C2 were set to Spastic paraplegia 45, 613162 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NSUN2 Zornitza Stark gene: NSUN2 was added
gene: NSUN2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NSUN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NSUN2 were set to Mental retardation, autosomal recessive 5, 611091 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NSDHL Zornitza Stark gene: NSDHL was added
gene: NSDHL was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NSDHL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NSDHL were set to CK syndrome, 300831 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NR0B1 Zornitza Stark gene: NR0B1 was added
gene: NR0B1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NR0B1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NR0B1 were set to 46XY sex reversal 2, dosage-sensitive, 300018 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NPR2 Zornitza Stark gene: NPR2 was added
gene: NPR2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NPR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPR2 were set to Acromesomelic dysplasia, Maroteaux type, 602875 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NPHS2 Zornitza Stark gene: NPHS2 was added
gene: NPHS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NPHS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHS2 were set to Nephrotic syndrome, type 2, 600995 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NPHS1 Zornitza Stark gene: NPHS1 was added
gene: NPHS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NPHS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHS1 were set to Nephrotic syndrome, type 1, 256300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NPHP4 Zornitza Stark gene: NPHP4 was added
gene: NPHP4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NPHP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP4 were set to Senior-Loken syndrome 4, 606996 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NPHP3 Zornitza Stark gene: NPHP3 was added
gene: NPHP3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NPHP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP3 were set to Meckel syndrome 7, 267010 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NPHP1 Zornitza Stark gene: NPHP1 was added
gene: NPHP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NPHP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP1 were set to Joubert syndrome 4, 609583 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NPC2 Zornitza Stark gene: NPC2 was added
gene: NPC2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPC2 were set to Niemann-pick disease, type C2, 607625 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NPC1 Zornitza Stark gene: NPC1 was added
gene: NPC1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPC1 were set to Niemann-Pick disease, type C1, 257220 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NNT Zornitza Stark gene: NNT was added
gene: NNT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NNT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NNT were set to Glucocorticoid deficiency 4, 614736 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NMNAT1 Zornitza Stark gene: NMNAT1 was added
gene: NMNAT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NMNAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NMNAT1 were set to Leber congenital amaurosis 9, 608553 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NLGN4X Zornitza Stark gene: NLGN4X was added
gene: NLGN4X was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NLGN4X was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NLGN4X were set to Mental retardation, X-linked, 300495 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NKX6-2 Zornitza Stark gene: NKX6-2 was added
gene: NKX6-2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NKX6-2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NKX6-2 were set to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NKX3-2 Zornitza Stark gene: NKX3-2 was added
gene: NKX3-2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NKX3-2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NKX3-2 were set to Spondylo-megaepiphyseal-metaphyseal dysplasia, 613330 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NIPAL4 Zornitza Stark gene: NIPAL4 was added
gene: NIPAL4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NIPAL4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NIPAL4 were set to Ichthyosis, congenital, autosomal recessive 6, 612281 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NHS Zornitza Stark gene: NHS was added
gene: NHS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NHS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NHS were set to Cataract 40, X-linked, 302200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NHLRC1 Zornitza Stark gene: NHLRC1 was added
gene: NHLRC1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NHLRC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NHLRC1 were set to Epilepsy, progressive myoclonic 2B (Lafora), 254780 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NHEJ1 Zornitza Stark gene: NHEJ1 was added
gene: NHEJ1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NHEJ1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NHEJ1 were set to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, 611291 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NGLY1 Zornitza Stark gene: NGLY1 was added
gene: NGLY1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NGLY1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NGLY1 were set to Congenital disorder of deglycosylation, 615273 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NGF Zornitza Stark gene: NGF was added
gene: NGF was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NGF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NGF were set to Neuropathy, hereditary sensory and autonomic, type V, 608654 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NFU1 Zornitza Stark gene: NFU1 was added
gene: NFU1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NFU1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NFU1 were set to Multiple mitochondrial dysfunctions syndrome 1, 605711 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NEXMIF Zornitza Stark gene: NEXMIF was added
gene: NEXMIF was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NEXMIF was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NEXMIF were set to Mental retardation, X-linked 98, 300912 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NEU1 Zornitza Stark gene: NEU1 was added
gene: NEU1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NEU1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEU1 were set to Sialidosis, type I, 256550 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NEK8 Zornitza Stark gene: NEK8 was added
gene: NEK8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NEK8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEK8 were set to Renal-hepatic-pancreatic dysplasia 2, 615415 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NEK1 Zornitza Stark gene: NEK1 was added
gene: NEK1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NEK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEK1 were set to Short-rib thoracic dysplasia 6 with or without polydactyly, 263520 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NECTIN1 Zornitza Stark gene: NECTIN1 was added
gene: NECTIN1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NECTIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NECTIN1 were set to Cleft lip/palate-ectodermal dysplasia syndrome, 225060 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NEB Zornitza Stark gene: NEB was added
gene: NEB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NEB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEB were set to Nemaline myopathy 2, autosomal recessive, 256030 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NDUFV2 Zornitza Stark gene: NDUFV2 was added
gene: NDUFV2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFV2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFV2 were set to Mitochondrial complex I deficiency, 252010 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NDUFV1 Zornitza Stark gene: NDUFV1 was added
gene: NDUFV1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFV1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFV1 were set to Mitochondrial complex I deficiency, 252010 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NDUFS8 Zornitza Stark gene: NDUFS8 was added
gene: NDUFS8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFS8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS8 were set to Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NDUFS7 Zornitza Stark gene: NDUFS7 was added
gene: NDUFS7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFS7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS7 were set to Leigh syndrome, 256000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NDUFS6 Zornitza Stark gene: NDUFS6 was added
gene: NDUFS6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFS6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS6 were set to Mitochondrial complex I deficiency, 252010 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NDUFS4 Zornitza Stark gene: NDUFS4 was added
gene: NDUFS4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFS4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS4 were set to Leigh syndrome, 256000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NDUFS2 Zornitza Stark gene: NDUFS2 was added
gene: NDUFS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS2 were set to Mitochondrial complex I deficiency, 252010 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NDUFS1 Zornitza Stark gene: NDUFS1 was added
gene: NDUFS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS1 were set to Mitochondrial complex I deficiency, 252010 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NDUFAF6 Zornitza Stark gene: NDUFAF6 was added
gene: NDUFAF6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFAF6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF6 were set to Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NDUFAF5 Zornitza Stark gene: NDUFAF5 was added
gene: NDUFAF5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFAF5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF5 were set to Mitochondrial complex 1 deficiency, 252010 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NDUFAF2 Zornitza Stark gene: NDUFAF2 was added
gene: NDUFAF2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFAF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF2 were set to Leigh syndrome, 256000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NDUFA11 Zornitza Stark gene: NDUFA11 was added
gene: NDUFA11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFA11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA11 were set to Mitochondrial complex I deficiency, 252010 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NDUFA10 Zornitza Stark gene: NDUFA10 was added
gene: NDUFA10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFA10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA10 were set to Leigh syndrome, 256000 (3), Autosomal recessive, Mitochondrial
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NDUFA1 Zornitza Stark gene: NDUFA1 was added
gene: NDUFA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NDUFA1 were set to Mitochondrial complex I deficiency, 252010 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NDRG1 Zornitza Stark gene: NDRG1 was added
gene: NDRG1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDRG1 were set to Charcot-Marie-Tooth disease, type 4D, 601455 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NDP Zornitza Stark gene: NDP was added
gene: NDP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NDP were set to Norrie disease, 310600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NDE1 Zornitza Stark gene: NDE1 was added
gene: NDE1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDE1 were set to Lissencephaly 4 (with microcephaly), 614019 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NCF2 Zornitza Stark gene: NCF2 was added
gene: NCF2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NCF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NCF2 were set to Chronic granulomatous disease due to deficiency of NCF-2, 233710 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NCF1 Zornitza Stark gene: NCF1 was added
gene: NCF1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NCF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NCF1 were set to Chronic granulomatous disease due to deficiency of NCF-1, 233700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NBN Zornitza Stark gene: NBN was added
gene: NBN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NBN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NBN were set to Nijmegen breakage syndrome, 251260 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NBAS Zornitza Stark gene: NBAS was added
gene: NBAS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NBAS were set to Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NAXE Zornitza Stark gene: NAXE was added
gene: NAXE was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NAXE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAXE were set to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 617186 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NARS2 Zornitza Stark gene: NARS2 was added
gene: NARS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NARS2 were set to Combined oxidative phosphorylation deficiency 24, 616239 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NANS Zornitza Stark gene: NANS was added
gene: NANS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NANS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NANS were set to Spondyloepimetaphyseal dysplasia, Camera-Genevieve type, 610442 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NALCN Zornitza Stark gene: NALCN was added
gene: NALCN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NALCN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NALCN were set to Hypotonia, infantile, with psychomotor retardation and characteristic facies, 615419 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NAGS Zornitza Stark gene: NAGS was added
gene: NAGS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NAGS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAGS were set to N-acetylglutamate synthase deficiency, 237310 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NAGLU Zornitza Stark gene: NAGLU was added
gene: NAGLU was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NAGLU was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAGLU were set to Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NAGA Zornitza Stark gene: NAGA was added
gene: NAGA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NAGA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAGA were set to Schindler disease, type I, 609241 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NAA10 Zornitza Stark gene: NAA10 was added
gene: NAA10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NAA10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NAA10 were set to N-terminal acetyltransferase deficiency, 300855 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MYO7A Zornitza Stark gene: MYO7A was added
gene: MYO7A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MYO7A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO7A were set to Usher syndrome, type 1B, 276900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MYO5B Zornitza Stark gene: MYO5B was added
gene: MYO5B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MYO5B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO5B were set to Microvillus inclusion disease, 251850 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MYMK Zornitza Stark gene: MYMK was added
gene: MYMK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MYMK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYMK were set to Carey-Fineman-Ziter syndrome, 254940 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MYD88 Zornitza Stark gene: MYD88 was added
gene: MYD88 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MYD88 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYD88 were set to Pyogenic bacterial infections, recurrent, due to MYD88 deficiency, 612260 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MVK Zornitza Stark gene: MVK was added
gene: MVK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MVK were set to Mevalonic aciduria, 610377 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MUSK Zornitza Stark gene: MUSK was added
gene: MUSK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MUSK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MUSK were set to Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MTTP Zornitza Stark gene: MTTP was added
gene: MTTP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MTTP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTTP were set to Abetalipoproteinemia, 200100 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MTRR Zornitza Stark gene: MTRR was added
gene: MTRR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MTRR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTRR were set to Homocystinuria-megaloblastic anemia, cbl E type, 236270 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MTR Zornitza Stark gene: MTR was added
gene: MTR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MTR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTR were set to Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MTO1 Zornitza Stark gene: MTO1 was added
gene: MTO1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MTO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTO1 were set to Combined oxidative phosphorylation deficiency 10, 614702 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MTMR2 Zornitza Stark gene: MTMR2 was added
gene: MTMR2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MTMR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTMR2 were set to Charcot-Marie-Tooth disease, type 4B1, 601382 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MTM1 Zornitza Stark gene: MTM1 was added
gene: MTM1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MTM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MTM1 were set to Myotubular myopathy, X-linked, 310400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MTHFR Zornitza Stark gene: MTHFR was added
gene: MTHFR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MTHFR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTHFR were set to Homocystinuria due to MTHFR deficiency, 236250 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MTHFD1 Zornitza Stark gene: MTHFD1 was added
gene: MTHFD1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MTHFD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTHFD1 were set to Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MTFMT Zornitza Stark gene: MTFMT was added
gene: MTFMT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MTFMT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTFMT were set to Combined oxidative phosphorylation deficiency 15, 614947 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MRE11 Zornitza Stark gene: MRE11 was added
gene: MRE11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MRE11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRE11 were set to Ataxia-telangiectasia-like disorder, 604391 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MRAP Zornitza Stark gene: MRAP was added
gene: MRAP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MRAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRAP were set to Glucocorticoid deficiency 2, 607398 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MPZ Zornitza Stark gene: MPZ was added
gene: MPZ was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MPZ was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPZ were set to Dejerine-Sottas disease, 145900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MPV17 Zornitza Stark gene: MPV17 was added
gene: MPV17 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPV17 were set to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MPLKIP Zornitza Stark gene: MPLKIP was added
gene: MPLKIP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MPLKIP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPLKIP were set to Trichothiodystrophy 4, nonphotosensitive, 234050 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MPL Zornitza Stark gene: MPL was added
gene: MPL was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPL were set to Thrombocytopenia, congenital amegakaryocytic, 604498 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MPI Zornitza Stark gene: MPI was added
gene: MPI was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPI were set to Congenital disorder of glycosylation, type Ib, 602579 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MPDZ Zornitza Stark gene: MPDZ was added
gene: MPDZ was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MPDZ was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPDZ were set to Hydrocephalus, nonsyndromic, autosomal recessive 2, 615219 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MOCS2 Zornitza Stark gene: MOCS2 was added
gene: MOCS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MOCS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MOCS2 were set to Molybdenum cofactor deficiency B, 252160 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MOCS1 Zornitza Stark gene: MOCS1 was added
gene: MOCS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MOCS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MOCS1 were set to Molybdenum cofactor deficiency A, 252150 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MUT Zornitza Stark gene: MUT was added
gene: MUT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MUT were set to Methylmalonic aciduria, mut(0) type, 251000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MMP21 Zornitza Stark gene: MMP21 was added
gene: MMP21 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MMP21 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMP21 were set to Heterotaxy, visceral, 7, autosomal, 616749 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MMP2 Zornitza Stark gene: MMP2 was added
gene: MMP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MMP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMP2 were set to Multicentric osteolysis, nodulosis, and arthropathy, 259600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MMADHC Zornitza Stark gene: MMADHC was added
gene: MMADHC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MMADHC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMADHC were set to Methylmalonic aciduria and homocystinuria, cblD type, 277410 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MMACHC Zornitza Stark gene: MMACHC was added
gene: MMACHC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria, cblC type, 277400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MMAB Zornitza Stark gene: MMAB was added
gene: MMAB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MMAB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMAB were set to Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MMAA Zornitza Stark gene: MMAA was added
gene: MMAA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MMAA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMAA were set to Methylmalonic aciduria, vitamin B12-responsive, 251100 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MLYCD Zornitza Stark gene: MLYCD was added
gene: MLYCD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MLYCD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MLYCD were set to Malonyl-CoA decarboxylase deficiency, 248360 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MLC1 Zornitza Stark gene: MLC1 was added
gene: MLC1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MLC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MLC1 were set to Megalencephalic leukoencephalopathy with subcortical cysts, 604004 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MKS1 Zornitza Stark gene: MKS1 was added
gene: MKS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MKS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MKS1 were set to Meckel syndrome 1, 249000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MKKS Zornitza Stark gene: MKKS was added
gene: MKKS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MKKS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MKKS were set to McKusick-Kaufman syndrome, 236700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MID1 Zornitza Stark gene: MID1 was added
gene: MID1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MID1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MID1 were set to Opitz GBBB syndrome, type I, 300000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MICU1 Zornitza Stark gene: MICU1 was added
gene: MICU1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MICU1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MICU1 were set to Myopathy with extrapyramidal signs, 615673 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MGP Zornitza Stark gene: MGP was added
gene: MGP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MGP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MGP were set to Keutel syndrome, 245150 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MGME1 Zornitza Stark gene: MGME1 was added
gene: MGME1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MGME1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MGME1 were set to Mitochondrial DNA depletion syndrome 11, 615084 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MGAT2 Zornitza Stark gene: MGAT2 was added
gene: MGAT2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MGAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MGAT2 were set to Congenital disorder of glycosylation, type IIa, 212066 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MFSD8 Zornitza Stark gene: MFSD8 was added
gene: MFSD8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MFSD8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MFSD8 were set to Ceroid lipofuscinosis, neuronal, 7, 610951 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MFSD2A Zornitza Stark gene: MFSD2A was added
gene: MFSD2A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MFSD2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MFSD2A were set to Microcephaly 15, primary, autosomal recessive, 616486 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MFN2 Zornitza Stark gene: MFN2 was added
gene: MFN2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MFN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MFN2 were set to Charcot-Marie-Tooth disease, axonal, type 2A2B, 617087 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 METTL23 Zornitza Stark gene: METTL23 was added
gene: METTL23 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: METTL23 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: METTL23 were set to Mental retardation, autosomal recessive 44, 615942 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MESP2 Zornitza Stark gene: MESP2 was added
gene: MESP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MESP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MESP2 were set to Spondylocostal dysostosis 2, autosomal recessive, 608681 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MERTK Zornitza Stark gene: MERTK was added
gene: MERTK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MERTK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MERTK were set to Retinitis pigmentosa 38, 613862 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MEGF8 Zornitza Stark gene: MEGF8 was added
gene: MEGF8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MEGF8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MEGF8 were set to Carpenter syndrome 2, 614976 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MEGF10 Zornitza Stark gene: MEGF10 was added
gene: MEGF10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MEGF10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MEGF10 were set to Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MED25 Zornitza Stark gene: MED25 was added
gene: MED25 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MED25 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MED25 were set to Basel-Vanagait-Smirin-Yosef syndrome, 616449 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MED23 Zornitza Stark gene: MED23 was added
gene: MED23 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MED23 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MED23 were set to Mental retardation, autosomal recessive 18, 614249 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MED17 Zornitza Stark gene: MED17 was added
gene: MED17 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MED17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MED17 were set to Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MED12 Zornitza Stark gene: MED12 was added
gene: MED12 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MED12 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MED12 were set to Lujan-Fryns syndrome, 309520 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MECP2 Zornitza Stark gene: MECP2 was added
gene: MECP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MECP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MECP2 were set to Encephalopathy, neonatal severe, 300673 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MCPH1 Zornitza Stark gene: MCPH1 was added
gene: MCPH1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MCPH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCPH1 were set to Microcephaly 1, primary, autosomal recessive, 251200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MCOLN1 Zornitza Stark gene: MCOLN1 was added
gene: MCOLN1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MCOLN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCOLN1 were set to Mucolipidosis IV, 252650 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MCM4 Zornitza Stark gene: MCM4 was added
gene: MCM4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MCM4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCM4 were set to Natural killer cell and glucocorticoid deficiency with DNA repair defect, 609981 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MCFD2 Zornitza Stark gene: MCFD2 was added
gene: MCFD2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MCFD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCFD2 were set to Factor V and factor VIII, combined deficiency of, 613625 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MC2R Zornitza Stark gene: MC2R was added
gene: MC2R was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MC2R was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MC2R were set to Glucocorticoid deficiency, due to ACTH unresponsiveness, 202200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MBTPS2 Zornitza Stark gene: MBTPS2 was added
gene: MBTPS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MBTPS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MBTPS2 were set to IFAP syndrome with or without BRESHECK syndrome, 308205 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MBOAT7 Zornitza Stark gene: MBOAT7 was added
gene: MBOAT7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MBOAT7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MBOAT7 were set to Mental retardation, autosomal recessive 57, 617188 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MASP1 Zornitza Stark gene: MASP1 was added
gene: MASP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MASP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MASP1 were set to 3MC syndrome 1, 257920 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MARS2 Zornitza Stark gene: MARS2 was added
gene: MARS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MARS2 were set to Spastic ataxia 3, autosomal recessive, 611390 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MARS Zornitza Stark gene: MARS was added
gene: MARS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MARS were set to Interstitial lung and liver disease, 615486 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MAPKBP1 Zornitza Stark gene: MAPKBP1 was added
gene: MAPKBP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MAPKBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MAPKBP1 were set to Nephronophthisis 20, 617271 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MAOA Zornitza Stark gene: MAOA was added
gene: MAOA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MAOA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MAOA were set to Brunner syndrome, 300615 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MANBA Zornitza Stark gene: MANBA was added
gene: MANBA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MANBA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MANBA were set to Mannosidosis, beta, 248510 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MAN2B1 Zornitza Stark gene: MAN2B1 was added
gene: MAN2B1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MAN2B1 were set to Mannosidosis, alpha-, types I and II, 248500 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MAN1B1 Zornitza Stark gene: MAN1B1 was added
gene: MAN1B1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MAN1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MAN1B1 were set to Mental retardation, autosomal recessive 15, 614202 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MALT1 Zornitza Stark gene: MALT1 was added
gene: MALT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MALT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MALT1 were set to Immunodeficiency 12, 615468 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LZTFL1 Zornitza Stark gene: LZTFL1 was added
gene: LZTFL1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LZTFL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LZTFL1 were set to Bardet-Biedl syndrome 17, 615994 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LYST Zornitza Stark gene: LYST was added
gene: LYST was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LYST were set to Chediak-Higashi syndrome, 214500 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LYRM7 Zornitza Stark gene: LYRM7 was added
gene: LYRM7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LYRM7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LYRM7 were set to Mitochondrial complex III deficiency, nuclear type 8, 615838 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LTBP4 Zornitza Stark gene: LTBP4 was added
gene: LTBP4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LTBP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LTBP4 were set to Cutis laxa, autosomal recessive, type IC, 613177 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LTBP3 Zornitza Stark gene: LTBP3 was added
gene: LTBP3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LTBP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LTBP3 were set to Tooth agenesis, selective, 6, 613097 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LRSAM1 Zornitza Stark gene: LRSAM1 was added
gene: LRSAM1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LRSAM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRSAM1 were set to Charcot-Marie-Toothe disease, axonal, type 2P, 614436 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LRRC6 Zornitza Stark gene: LRRC6 was added
gene: LRRC6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LRRC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRRC6 were set to Ciliary dyskinesia, primary, 19, 614935 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LRPPRC Zornitza Stark gene: LRPPRC was added
gene: LRPPRC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LRPPRC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRPPRC were set to Leigh syndrome, French-Canadian type, 220111 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LRP5 Zornitza Stark gene: LRP5 was added
gene: LRP5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LRP5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRP5 were set to Osteoporosis-pseudoglioma syndrome, 259770 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LRP4 Zornitza Stark gene: LRP4 was added
gene: LRP4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LRP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRP4 were set to Cenani-Lenz syndactyly syndrome, 212780 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LRP2 Zornitza Stark gene: LRP2 was added
gene: LRP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LRP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRP2 were set to Donnai-Barrow syndrome, 222448 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LRMDA Zornitza Stark gene: LRMDA was added
gene: LRMDA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LRMDA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRMDA were set to Albinism, oculocutaneous, type VII, 615179 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LRIG2 Zornitza Stark gene: LRIG2 was added
gene: LRIG2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LRIG2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRIG2 were set to Urofacial syndrome 2, 615112 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LRBA Zornitza Stark gene: LRBA was added
gene: LRBA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LRBA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRBA were set to Immunodeficiency, common variable, 8, with autoimmunity, 614700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LRAT Zornitza Stark gene: LRAT was added
gene: LRAT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LRAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRAT were set to Leber congenital amaurosis 14, 613341 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LPL Zornitza Stark gene: LPL was added
gene: LPL was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LPL were set to Lipoprotein lipase deficiency, 238600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LPIN2 Zornitza Stark gene: LPIN2 was added
gene: LPIN2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LPIN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LPIN2 were set to Majeed syndrome, 609628 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LPIN1 Zornitza Stark gene: LPIN1 was added
gene: LPIN1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LPIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LPIN1 were set to Myoglobinuria, acute recurrent, autosomal recessive, 268200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LONP1 Zornitza Stark gene: LONP1 was added
gene: LONP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LONP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LONP1 were set to CODAS syndrome, 600373 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LMOD3 Zornitza Stark gene: LMOD3 was added
gene: LMOD3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LMOD3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LMOD3 were set to Nemaline myopathy 10, 616165 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LMNA Zornitza Stark gene: LMNA was added
gene: LMNA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LMNA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LMNA were set to Restrictive dermopathy, lethal, 275210 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LMBRD1 Zornitza Stark gene: LMBRD1 was added
gene: LMBRD1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LMBRD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LMBRD1 were set to Methylmalonic aciduria and homocystinuria, cblF type, 277380 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LMBR1 Zornitza Stark gene: LMBR1 was added
gene: LMBR1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LMBR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LMBR1 were set to Acheiropody, 200500 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LMAN1 Zornitza Stark gene: LMAN1 was added
gene: LMAN1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LMAN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LMAN1 were set to Combined factor V and VIII deficiency, 227300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LIPT1 Zornitza Stark gene: LIPT1 was added
gene: LIPT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LIPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIPT1 were set to Lipoyltransferase 1 deficiency, 616299 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LIPC Zornitza Stark gene: LIPC was added
gene: LIPC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LIPC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIPC were set to Hepatic lipase deficiency, 614025 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LIPA Zornitza Stark gene: LIPA was added
gene: LIPA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LIPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIPA were set to Cholesteryl ester storage disease, 278000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LINS1 Zornitza Stark gene: LINS1 was added
gene: LINS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LINS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LINS1 were set to Mental retardation, autosomal recessive 27, 614340 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LIG4 Zornitza Stark gene: LIG4 was added
gene: LIG4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LIG4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIG4 were set to LIG4 syndrome, 606593 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LIFR Zornitza Stark gene: LIFR was added
gene: LIFR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LIFR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIFR were set to Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LIAS Zornitza Stark gene: LIAS was added
gene: LIAS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LIAS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIAS were set to Pyruvate dehydrogenase lipoic acid synthetase deficiency, 614462 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LHX3 Zornitza Stark gene: LHX3 was added
gene: LHX3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LHX3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LHX3 were set to Pituitary hormone deficiency, combined, 3, 221750 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LGI4 Zornitza Stark gene: LGI4 was added
gene: LGI4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LGI4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LGI4 were set to Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LEP Zornitza Stark gene: LEP was added
gene: LEP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LEP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LEP were set to Obesity, morbid, due to leptin deficiency, 614962 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LDLRAP1 Zornitza Stark gene: LDLRAP1 was added
gene: LDLRAP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LDLRAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LDLRAP1 were set to Hypercholesterolemia, familial, autosomal recessive, 603813 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LDLR Zornitza Stark gene: LDLR was added
gene: LDLR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LDLR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LDLR were set to LDL cholesterol level QTL2/Hypercholesterolemia, familial
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LDHB Zornitza Stark gene: LDHB was added
gene: LDHB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LDHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LDHB were set to Lactate dehydrogenase-B deficiency, 614128 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LDHA Zornitza Stark gene: LDHA was added
gene: LDHA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LDHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LDHA were set to Glycogen storage disease XI, 612933 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LCAT Zornitza Stark gene: LCAT was added
gene: LCAT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LCAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LCAT were set to Norum disease, 245900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LCA5 Zornitza Stark gene: LCA5 was added
gene: LCA5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LCA5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LCA5 were set to Leber congenital amaurosis 5, 604537 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LBR Zornitza Stark gene: LBR was added
gene: LBR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LBR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LBR were set to Greenberg skeletal dysplasia, 215140 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LARS2 Zornitza Stark gene: LARS2 was added
gene: LARS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LARS2 were set to Perrault syndrome 4, 615300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LARS Zornitza Stark gene: LARS was added
gene: LARS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LARS were set to ?Infantile liver failure syndrome 1
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LARP7 Zornitza Stark gene: LARP7 was added
gene: LARP7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LARP7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LARP7 were set to Alazami syndrome, 615071 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LARGE1 Zornitza Stark gene: LARGE1 was added
gene: LARGE1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LARGE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LARGE1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LAMC3 Zornitza Stark gene: LAMC3 was added
gene: LAMC3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LAMC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMC3 were set to Cortical malformations, occipital, 614115 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LAMC2 Zornitza Stark gene: LAMC2 was added
gene: LAMC2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LAMC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMC2 were set to Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LAMB3 Zornitza Stark gene: LAMB3 was added
gene: LAMB3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LAMB3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMB3 were set to Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LAMB2 Zornitza Stark gene: LAMB2 was added
gene: LAMB2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LAMB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMB2 were set to Pierson syndrome, 609049 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LAMB1 Zornitza Stark gene: LAMB1 was added
gene: LAMB1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LAMB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMB1 were set to Lissencephaly 5, 615191 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LAMA3 Zornitza Stark gene: LAMA3 was added
gene: LAMA3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LAMA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMA3 were set to Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LAMA2 Zornitza Stark gene: LAMA2 was added
gene: LAMA2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LAMA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMA2 were set to Muscular dystrophy, congenital merosin-deficient, 607855 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LAMA1 Zornitza Stark gene: LAMA1 was added
gene: LAMA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LAMA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMA1 were set to Poretti-Boltshauser syndrome, 615960 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 L2HGDH Zornitza Stark gene: L2HGDH was added
gene: L2HGDH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: L2HGDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: L2HGDH were set to L-2-hydroxyglutaric aciduria, 236792 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 L1CAM Zornitza Stark gene: L1CAM was added
gene: L1CAM was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: L1CAM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: L1CAM were set to MASA syndrome, 303350 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KY Zornitza Stark gene: KY was added
gene: KY was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KY was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KY were set to Myopathy, myofibrillar, 7, 617114 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KRT85 Zornitza Stark gene: KRT85 was added
gene: KRT85 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KRT85 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KRT85 were set to Ectodermal dysplasia 4, hair/nail type, 602032 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KRT8 Zornitza Stark gene: KRT8 was added
gene: KRT8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KRT8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KRT8 were set to Cirrhosis, cryptogenic, 215600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KRT5 Zornitza Stark gene: KRT5 was added
gene: KRT5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KRT5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KRT5 were set to Epidermolysis bullosa simplex, recessive 1, 601001 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KRT14 Zornitza Stark gene: KRT14 was added
gene: KRT14 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KRT14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KRT14 were set to Epidermolysis bullosa simplex, recessive 1, 601001 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KRT10 Zornitza Stark gene: KRT10 was added
gene: KRT10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KRT10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KRT10 were set to Epidermolytic hyperkeratosis, 113800 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KPTN Zornitza Stark gene: KPTN was added
gene: KPTN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KPTN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KPTN were set to Mental retardation, autosomal recessive 41, 615637 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KNL1 Zornitza Stark gene: KNL1 was added
gene: KNL1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KNL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KNL1 were set to Microcephaly 4, primary, autosomal recessive, 604321 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KLHL7 Zornitza Stark gene: KLHL7 was added
gene: KLHL7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KLHL7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KLHL7 were set to PERCHING syndrome, 617055 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KLHL41 Zornitza Stark gene: KLHL41 was added
gene: KLHL41 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KLHL41 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KLHL41 were set to Nemaline myopathy 9, 615731 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KLHL40 Zornitza Stark gene: KLHL40 was added
gene: KLHL40 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KLHL40 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KLHL40 were set to Nemaline myopathy 8, autosomal recessive, 615348 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KIF1BP Zornitza Stark gene: KIF1BP was added
gene: KIF1BP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KIF1BP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF1BP were set to Goldberg-Shprintzen megacolon syndrome, 609460 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KIF7 Zornitza Stark gene: KIF7 was added
gene: KIF7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KIF7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF7 were set to Hydrolethalus syndrome 2, 614120 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KIF1C Zornitza Stark gene: KIF1C was added
gene: KIF1C was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KIF1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF1C were set to Spastic ataxia 2, autosomal recessive, 611302 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KIF1A Zornitza Stark gene: KIF1A was added
gene: KIF1A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KIF1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF1A were set to Spastic paraplegia 30, autosomal recessive, 610357 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KIF14 Zornitza Stark gene: KIF14 was added
gene: KIF14 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KIF14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF14 were set to Microcephaly 20, primary, autosomal recessive, 617914 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KIAA1109 Zornitza Stark gene: KIAA1109 was added
gene: KIAA1109 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KIAA1109 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIAA1109 were set to Alkuraya-Kucinskas syndrome, 617822 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KIAA0586 Zornitza Stark gene: KIAA0586 was added
gene: KIAA0586 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KIAA0586 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIAA0586 were set to Short-rib thoracic dysplasia 14 with polydactyly, 616546 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KDM5C Zornitza Stark gene: KDM5C was added
gene: KDM5C was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KDM5C was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: KDM5C were set to Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KCTD7 Zornitza Stark gene: KCTD7 was added
gene: KCTD7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KCTD7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCTD7 were set to Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KCNV2 Zornitza Stark gene: KCNV2 was added
gene: KCNV2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KCNV2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNV2 were set to Retinal cone dystrophy 3B, 610356 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KCNQ1 Zornitza Stark gene: KCNQ1 was added
gene: KCNQ1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KCNQ1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNQ1 were set to Jervell and Lange-Nielsen syndrome, 220400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KCNJ11 Zornitza Stark gene: KCNJ11 was added
gene: KCNJ11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KCNJ11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNJ11 were set to Hyperinsulinemic hypoglycemia, familial, 2, 601820 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KCNJ10 Zornitza Stark gene: KCNJ10 was added
gene: KCNJ10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KCNJ10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNJ10 were set to SESAME syndrome, 612780 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KCNJ1 Zornitza Stark gene: KCNJ1 was added
gene: KCNJ1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KCNJ1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNJ1 were set to Bartter syndrome, type 2, 241200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KCNE1 Zornitza Stark gene: KCNE1 was added
gene: KCNE1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KCNE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNE1 were set to Jervell and Lange-Nielsen syndrome 2, 612347 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KATNB1 Zornitza Stark gene: KATNB1 was added
gene: KATNB1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KATNB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KATNB1 were set to Lissencephaly 6, with microcephaly, 616212 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 JUP Zornitza Stark gene: JUP was added
gene: JUP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: JUP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: JUP were set to Naxos disease, 601214 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 JAM3 Zornitza Stark gene: JAM3 was added
gene: JAM3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: JAM3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: JAM3 were set to Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 JAK3 Zornitza Stark gene: JAK3 was added
gene: JAK3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: JAK3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: JAK3 were set to SCID, autosomal recessive, T-negative/B-positive type, 600802 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 JAGN1 Zornitza Stark gene: JAGN1 was added
gene: JAGN1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: JAGN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: JAGN1 were set to Neutropenia, severe congenital, 6, autosomal recessive, 616022 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IVD Zornitza Stark gene: IVD was added
gene: IVD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IVD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IVD were set to Isovaleric acidemia, 243500 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ITPR1 Zornitza Stark gene: ITPR1 was added
gene: ITPR1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ITPR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITPR1 were set to Gillespie syndrome, 206700 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ITK Zornitza Stark gene: ITK was added
gene: ITK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ITK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITK were set to Lymphoproliferative syndrome 1, 613011 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ITGB4 Zornitza Stark gene: ITGB4 was added
gene: ITGB4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ITGB4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGB4 were set to Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ITGB2 Zornitza Stark gene: ITGB2 was added
gene: ITGB2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ITGB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGB2 were set to Leukocyte adhesion deficiency, 116920 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ITGA6 Zornitza Stark gene: ITGA6 was added
gene: ITGA6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ITGA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGA6 were set to Epidermolysis bullosa, junctional, with pyloric stenosis, 226730 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ITCH Zornitza Stark gene: ITCH was added
gene: ITCH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ITCH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITCH were set to Autoimmune disease, multisystem, with facial dysmorphism, 613385 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ISCA2 Zornitza Stark gene: ISCA2 was added
gene: ISCA2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ISCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ISCA2 were set to Multiple mitochondrial dysfunctions syndrome 4, 616370 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IQSEC2 Zornitza Stark gene: IQSEC2 was added
gene: IQSEC2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IQSEC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IQSEC2 were set to Mental retardation, X-linked 1, 309530 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IQCB1 Zornitza Stark gene: IQCB1 was added
gene: IQCB1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IQCB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IQCB1 were set to Senior-Loken syndrome 5, 609254 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 INVS Zornitza Stark gene: INVS was added
gene: INVS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: INVS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INVS were set to Nephronophthisis 2, infantile, 602088 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 INSR Zornitza Stark gene: INSR was added
gene: INSR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: INSR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INSR were set to Leprechaunism, 246200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 INPPL1 Zornitza Stark gene: INPPL1 was added
gene: INPPL1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: INPPL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INPPL1 were set to Opsismodysplasia, 258480 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 INPP5K Zornitza Stark gene: INPP5K was added
gene: INPP5K was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: INPP5K was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INPP5K were set to Muscular dystrophy, congenital, with cataracts and intellectual disability, 617404 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 INPP5E Zornitza Stark gene: INPP5E was added
gene: INPP5E was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: INPP5E was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INPP5E were set to Joubert syndrome 1, 213300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IMPG2 Zornitza Stark gene: IMPG2 was added
gene: IMPG2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IMPG2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IMPG2 were set to Retinitis pigmentosa 56, 613581 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IL7R Zornitza Stark gene: IL7R was added
gene: IL7R was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IL7R was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IL7R were set to Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IL2RG Zornitza Stark gene: IL2RG was added
gene: IL2RG was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IL2RG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IL2RG were set to Severe combined immunodeficiency, X-linked, 300400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IL1RN Zornitza Stark gene: IL1RN was added
gene: IL1RN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IL1RN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IL1RN were set to Interleukin 1 receptor antagonist deficiency, 612852 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IL1RAPL1 Zornitza Stark gene: IL1RAPL1 was added
gene: IL1RAPL1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IL1RAPL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IL1RAPL1 were set to Mental retardation, X-linked 21/34, 300143 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IL17RA Zornitza Stark gene: IL17RA was added
gene: IL17RA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IL17RA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IL17RA were set to Immunodeficiency 51, 613953 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IL12RB1 Zornitza Stark gene: IL12RB1 was added
gene: IL12RB1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IL12RB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IL12RB1 were set to Immunodeficiency 30, 614891 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IL11RA Zornitza Stark gene: IL11RA was added
gene: IL11RA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IL11RA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IL11RA were set to Craniosynostosis and dental anomalies, 614188 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IL10RA Zornitza Stark gene: IL10RA was added
gene: IL10RA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IL10RA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IL10RA were set to Inflammatory bowel disease 28, early onset, autosomal recessive, 613148 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IKBKG Zornitza Stark gene: IKBKG was added
gene: IKBKG was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IKBKG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IKBKG were set to Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IKBKB Zornitza Stark gene: IKBKB was added
gene: IKBKB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IKBKB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IKBKB were set to Immunodeficiency 15, 615592 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IGHMBP2 Zornitza Stark gene: IGHMBP2 was added
gene: IGHMBP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IGHMBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IGHMBP2 were set to Neuronopathy, distal hereditary motor, type VI, 604320 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IGHM Zornitza Stark gene: IGHM was added
gene: IGHM was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IGHM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IGHM were set to Agammaglobulinemia 1, 601495 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IGFBP7 Zornitza Stark gene: IGFBP7 was added
gene: IGFBP7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IGFBP7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IGFBP7 were set to Retinal arterial macroaneurysm with supravalvular pulmonic stenosis, 614224 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IGF1R Zornitza Stark gene: IGF1R was added
gene: IGF1R was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IGF1R was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IGF1R were set to Insulin-like growth factor I, resistance to, 270450 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IFT80 Zornitza Stark gene: IFT80 was added
gene: IFT80 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IFT80 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT80 were set to Short-rib thoracic dysplasia 2 with or without polydactyly, 611263 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IFT172 Zornitza Stark gene: IFT172 was added
gene: IFT172 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IFT172 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT172 were set to Short-rib thoracic dysplasia 10 with or without polydactyly, 615630 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IFT140 Zornitza Stark gene: IFT140 was added
gene: IFT140 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IFT140 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT140 were set to Short-rib thoracic dysplasia 9 with or without polydactyly, 266920 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IFT122 Zornitza Stark gene: IFT122 was added
gene: IFT122 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IFT122 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT122 were set to Cranioectodermal dysplasia 1, 218330 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IFNGR2 Zornitza Stark gene: IFNGR2 was added
gene: IFNGR2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IFNGR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFNGR2 were set to Immunodeficiency 28, mycobacteriosis, 614889 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IFNGR1 Zornitza Stark gene: IFNGR1 was added
gene: IFNGR1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IFNGR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFNGR1 were set to Immunodeficiency 27A, mycobacteriosis, AR, 209950 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IER3IP1 Zornitza Stark gene: IER3IP1 was added
gene: IER3IP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IER3IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IER3IP1 were set to Microcephaly, epilepsy, and diabetes syndrome, 614231 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IDUA Zornitza Stark gene: IDUA was added
gene: IDUA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IDUA were set to Mucopolysaccharidosis Ih, 607014 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IDS Zornitza Stark gene: IDS was added
gene: IDS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IDS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IDS were set to Mucopolysaccharidosis II, 309900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ICOS Zornitza Stark gene: ICOS was added
gene: ICOS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ICOS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ICOS were set to Immunodeficiency, common variable, 1, 607594 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IBA57 Zornitza Stark gene: IBA57 was added
gene: IBA57 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IBA57 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IBA57 were set to Multiple mitochondrial dysfunctions syndrome 3, 615330 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IARS2 Zornitza Stark gene: IARS2 was added
gene: IARS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IARS2 were set to ?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IARS Zornitza Stark gene: IARS was added
gene: IARS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IARS were set to Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, 617093 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HYLS1 Zornitza Stark gene: HYLS1 was added
gene: HYLS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HYLS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HYLS1 were set to Hydrolethalus syndrome, 236680 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HYDIN Zornitza Stark gene: HYDIN was added
gene: HYDIN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HYDIN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HYDIN were set to Ciliary dyskinesia, primary, 5, 608647 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HUWE1 Zornitza Stark gene: HUWE1 was added
gene: HUWE1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HUWE1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: HUWE1 were set to Mental retardation, X-linked syndromic, Turner type, 300706 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HTRA2 Zornitza Stark gene: HTRA2 was added
gene: HTRA2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HTRA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HTRA2 were set to 3-methylglutaconic aciduria, type VIII, 617248 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HSPG2 Zornitza Stark gene: HSPG2 was added
gene: HSPG2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HSPG2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSPG2 were set to Schwartz-Jampel syndrome, type 1, 255800 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HSPD1 Zornitza Stark gene: HSPD1 was added
gene: HSPD1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HSPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSPD1 were set to Leukodystrophy, hypomyelinating, 4, 612233 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HSD3B7 Zornitza Stark gene: HSD3B7 was added
gene: HSD3B7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HSD3B7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSD3B7 were set to Bile acid synthesis defect, congenital, 1, 607765 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HSD3B2 Zornitza Stark gene: HSD3B2 was added
gene: HSD3B2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HSD3B2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSD3B2 were set to 3-beta-hydroxysteroid dehydrogenase, type II, deficiency, 201810 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HSD17B4 Zornitza Stark gene: HSD17B4 was added
gene: HSD17B4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HSD17B4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSD17B4 were set to D-bifunctional protein deficiency, 261515 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HSD17B10 Zornitza Stark gene: HSD17B10 was added
gene: HSD17B10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HSD17B10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: HSD17B10 were set to HSD10 mitochondrial disease
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HPSE2 Zornitza Stark gene: HPSE2 was added
gene: HPSE2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HPSE2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPSE2 were set to Urofacial syndrome 1, 236730 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HPS6 Zornitza Stark gene: HPS6 was added
gene: HPS6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HPS6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPS6 were set to Hermansky-Pudlak syndrome 6, 614075 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HPS5 Zornitza Stark gene: HPS5 was added
gene: HPS5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HPS5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPS5 were set to Hermansky-Pudlak syndrome 5, 614074 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HPS4 Zornitza Stark gene: HPS4 was added
gene: HPS4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HPS4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPS4 were set to Hermansky-Pudlak syndrome 4, 614073 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HPS3 Zornitza Stark gene: HPS3 was added
gene: HPS3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HPS3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPS3 were set to Hermansky-Pudlak syndrome 3, 614072 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HPS1 Zornitza Stark gene: HPS1 was added
gene: HPS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPS1 were set to Hermansky-Pudlak syndrome 1, 203300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HPRT1 Zornitza Stark gene: HPRT1 was added
gene: HPRT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HPRT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: HPRT1 were set to Lesch-Nyhan syndrome, 300322 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HPGD Zornitza Stark gene: HPGD was added
gene: HPGD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HPGD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPGD were set to Cranioosteoarthropathy, 259100 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HPD Zornitza Stark gene: HPD was added
gene: HPD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HPD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPD were set to Tyrosinemia, type III, 276710 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HOXA1 Zornitza Stark gene: HOXA1 was added
gene: HOXA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HOXA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HOXA1 were set to Athabaskan brainstem dysgenesis syndrome, 601536 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HMGCS2 Zornitza Stark gene: HMGCS2 was added
gene: HMGCS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HMGCS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HMGCS2 were set to HMG-CoA synthase-2 deficiency, 605911 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HMGCL Zornitza Stark gene: HMGCL was added
gene: HMGCL was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HMGCL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HMGCL were set to HMG-CoA lyase deficiency, 246450 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HLCS Zornitza Stark gene: HLCS was added
gene: HLCS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HLCS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HLCS were set to Holocarboxylase synthetase deficiency, 253270 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HK1 Zornitza Stark gene: HK1 was added
gene: HK1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HK1 were set to Neuropathy, hereditary motor and sensory, Russe type, 605285 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HFE2 Zornitza Stark gene: HFE2 was added
gene: HFE2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HFE2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HFE2 were set to Hemochromatosis, type 2A, 602390 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HINT1 Zornitza Stark gene: HINT1 was added
gene: HINT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HINT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HINT1 were set to Neuromyotonia and axonal neuropathy, autosomal recessive, 137200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HIBCH Zornitza Stark gene: HIBCH was added
gene: HIBCH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HIBCH were set to 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HGSNAT Zornitza Stark gene: HGSNAT was added
gene: HGSNAT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HGSNAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HGSNAT were set to Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HEXB Zornitza Stark gene: HEXB was added
gene: HEXB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HEXB were set to Sandhoff disease, infantile, juvenile, and adult forms, 268800 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HEXA Zornitza Stark gene: HEXA was added
gene: HEXA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HEXA were set to Tay-Sachs disease, 272800 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HESX1 Zornitza Stark gene: HESX1 was added
gene: HESX1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HESX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HESX1 were set to Septooptic dysplasia, 182230 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HES7 Zornitza Stark gene: HES7 was added
gene: HES7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HES7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HES7 were set to Spondylocostal dysostosis 4, autosomal recessive, 613686 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HERC2 Zornitza Stark gene: HERC2 was added
gene: HERC2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HERC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HERC2 were set to Mental retardation, autosomal recessive 38, 615516 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HEPACAM Zornitza Stark gene: HEPACAM was added
gene: HEPACAM was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HEPACAM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HEPACAM were set to Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HCFC1 Zornitza Stark gene: HCFC1 was added
gene: HCFC1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HCFC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: HCFC1 were set to Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HBB Zornitza Stark gene: HBB was added
gene: HBB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HBB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HBB were set to Thalassemias, beta-, 613985 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HAX1 Zornitza Stark gene: HAX1 was added
gene: HAX1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HAX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HAX1 were set to Neutropenia, severe congenital 3, autosomal recessive, 610738 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HAMP Zornitza Stark gene: HAMP was added
gene: HAMP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HAMP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HAMP were set to Hemochromatosis, type 2B, 613313 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HADHB Zornitza Stark gene: HADHB was added
gene: HADHB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHB were set to Trifunctional protein deficiency, 609015 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HADHA Zornitza Stark gene: HADHA was added
gene: HADHA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHA were set to Fatty liver, acute, of pregnancy, 609016 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HADH Zornitza Stark gene: HADH was added
gene: HADH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HADH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADH were set to 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HACE1 Zornitza Stark gene: HACE1 was added
gene: HACE1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HACE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HACE1 were set to Spastic paraplegia and psychomotor retardation with or without seizures, 616756 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GYS2 Zornitza Stark gene: GYS2 was added
gene: GYS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GYS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GYS2 were set to Glycogen storage disease 0, liver, 240600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GUSB Zornitza Stark gene: GUSB was added
gene: GUSB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GUSB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GUSB were set to Mucopolysaccharidosis VII, 253220 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GUCY2D Zornitza Stark gene: GUCY2D was added
gene: GUCY2D was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GUCY2D was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GUCY2D were set to Leber congenital amaurosis 1, 204000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GUCY2C Zornitza Stark gene: GUCY2C was added
gene: GUCY2C was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GUCY2C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GUCY2C were set to Meconium ileus, 614665 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GUCY1A3 Zornitza Stark gene: GUCY1A3 was added
gene: GUCY1A3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GUCY1A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GUCY1A3 were set to Moyamoya 6 with achalasia, 615750 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GTPBP3 Zornitza Stark gene: GTPBP3 was added
gene: GTPBP3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GTPBP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GTPBP3 were set to Combined oxidative phosphorylation deficiency 23, 616198 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GTF2H5 Zornitza Stark gene: GTF2H5 was added
gene: GTF2H5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GTF2H5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GTF2H5 were set to Trichothiodystrophy 3, photosensitive, 616395 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GSS Zornitza Stark gene: GSS was added
gene: GSS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GSS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GSS were set to Glutathione synthetase deficiency, 266130 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GRM1 Zornitza Stark gene: GRM1 was added
gene: GRM1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GRM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GRM1 were set to Spinocerebellar ataxia, autosomal recessive 13, 614831 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GPT2 Zornitza Stark gene: GPT2 was added
gene: GPT2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPT2 were set to Mental retardation, autosomal recessive 49, 616281 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GPSM2 Zornitza Stark gene: GPSM2 was added
gene: GPSM2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GPSM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPSM2 were set to Chudley-McCullough syndrome, 604213 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GPR179 Zornitza Stark gene: GPR179 was added
gene: GPR179 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GPR179 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPR179 were set to Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GPR143 Zornitza Stark gene: GPR143 was added
gene: GPR143 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GPR143 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GPR143 were set to Ocular albinism, type I, Nettleship-Falls type, 300500 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GPHN Zornitza Stark gene: GPHN was added
gene: GPHN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GPHN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPHN were set to Molybdenum cofactor deficiency C, 615501 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GPC6 Zornitza Stark gene: GPC6 was added
gene: GPC6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GPC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPC6 were set to Omodysplasia 1, 258315 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GPC3 Zornitza Stark gene: GPC3 was added
gene: GPC3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GPC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GPC3 were set to Simpson-Golabi-Behmel syndrome, type 1, 312870 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GPAA1 Zornitza Stark gene: GPAA1 was added
gene: GPAA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GPAA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPAA1 were set to Glycosylphosphatidylinositol biosynthesis defect 15, 617810 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GOSR2 Zornitza Stark gene: GOSR2 was added
gene: GOSR2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GOSR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GOSR2 were set to Epilepsy, progressive myoclonic 6, 614018 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GORAB Zornitza Stark gene: GORAB was added
gene: GORAB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GORAB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GORAB were set to Geroderma osteodysplasticum, 231070 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GNS Zornitza Stark gene: GNS was added
gene: GNS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNS were set to Mucopolysaccharidosis type IIID, 252940 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GNPTG Zornitza Stark gene: GNPTG was added
gene: GNPTG was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GNPTG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNPTG were set to Mucolipidosis III gamma, 252605 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GNPTAB Zornitza Stark gene: GNPTAB was added
gene: GNPTAB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GNPTAB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNPTAB were set to Mucolipidosis III alpha/beta, 252600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GNPAT Zornitza Stark gene: GNPAT was added
gene: GNPAT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GNPAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNPAT were set to Chondrodysplasia punctata, rhizomelic, type 2, 222765 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GNE Zornitza Stark gene: GNE was added
gene: GNE was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GNE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNE were set to Inclusion body myopathy, autosomal recessive, 600737 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GNB5 Zornitza Stark gene: GNB5 was added
gene: GNB5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GNB5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNB5 were set to Intellectual developmental disorder with cardiac arrhythmia, 617173 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GNAT2 Zornitza Stark gene: GNAT2 was added
gene: GNAT2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GNAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNAT2 were set to Achromatopsia-4, 613856 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GMPPB Zornitza Stark gene: GMPPB was added
gene: GMPPB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GMPPB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GMPPB were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, 615352 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GMPPA Zornitza Stark gene: GMPPA was added
gene: GMPPA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GMPPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GMPPA were set to Alacrima, achalasia, and mental retardation syndrome, 615510 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GM2A Zornitza Stark gene: GM2A was added
gene: GM2A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GM2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GM2A were set to GM2-gangliosidosis, AB variant, 272750 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GLYCTK Zornitza Stark gene: GLYCTK was added
gene: GLYCTK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GLYCTK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLYCTK were set to D-glyceric aciduria, 220120 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GLIS3 Zornitza Stark gene: GLIS3 was added
gene: GLIS3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GLIS3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLIS3 were set to Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GLE1 Zornitza Stark gene: GLE1 was added
gene: GLE1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GLE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLE1 were set to Arthrogryposis, lethal, with anterior horn cell disease, 611890 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GLDN Zornitza Stark gene: GLDN was added
gene: GLDN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GLDN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLDN were set to Lethal congenital contracture syndrome 11, 617194 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GLDC Zornitza Stark gene: GLDC was added
gene: GLDC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GLDC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLDC were set to Glycine encephalopathy, 605899 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GLB1 Zornitza Stark gene: GLB1 was added
gene: GLB1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLB1 were set to Mucopolysaccharidosis type IVB (Morquio), 253010 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GLA Zornitza Stark gene: GLA was added
gene: GLA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GLA were set to Fabry disease, 301500 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GK Zornitza Stark gene: GK was added
gene: GK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GK were set to Glycerol kinase deficiency, 307030 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GJC2 Zornitza Stark gene: GJC2 was added
gene: GJC2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GJC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GJC2 were set to Leukodystrophy, hypomyelinating, 2, 608804 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GJA1 Zornitza Stark gene: GJA1 was added
gene: GJA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GJA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GJA1 were set to Hypoplastic left heart syndrome 1, 241550 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GHR Zornitza Stark gene: GHR was added
gene: GHR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GHR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GHR were set to Laron dwarfism, 262500 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GFPT1 Zornitza Stark gene: GFPT1 was added
gene: GFPT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GFPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GFPT1 were set to Myasthenia, congenital, 12, with tubular aggregates, 610542 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GFM1 Zornitza Stark gene: GFM1 was added
gene: GFM1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GFM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GFM1 were set to Combined oxidative phosphorylation deficiency 1, 609060 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GDI1 Zornitza Stark gene: GDI1 was added
gene: GDI1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GDI1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GDI1 were set to Mental retardation, X-linked 41, 300849 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GDF5 Zornitza Stark gene: GDF5 was added
gene: GDF5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GDF5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GDF5 were set to Chondrodysplasia, Grebe type, 200700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GDF1 Zornitza Stark gene: GDF1 was added
gene: GDF1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GDF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GDF1 were set to Right atrial isomerism, 208530 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GDAP1 Zornitza Stark gene: GDAP1 was added
gene: GDAP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GDAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GDAP1 were set to Charcot-Marie-Tooth disease, recessive intermediate, A, 608340 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GCH1 Zornitza Stark gene: GCH1 was added
gene: GCH1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GCH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GCH1 were set to Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GCDH Zornitza Stark gene: GCDH was added
gene: GCDH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GCDH were set to Glutaricaciduria, type I, 231670 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GBE1 Zornitza Stark gene: GBE1 was added
gene: GBE1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBE1 were set to Glycogen storage disease IV, 232500 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GBA2 Zornitza Stark gene: GBA2 was added
gene: GBA2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GBA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBA2 were set to Spastic paraplegia 46, autosomal recessive, 614409 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GBA Zornitza Stark gene: GBA was added
gene: GBA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBA were set to Gaucher disease, perinatal lethal, 608013 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GATM Zornitza Stark gene: GATM was added
gene: GATM was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GATM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GATM were set to Cerebral creatine deficiency syndrome 3, 612718 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GAS8 Zornitza Stark gene: GAS8 was added
gene: GAS8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GAS8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GAS8 were set to Ciliary dyskinesia, primary, 33, 616726 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GAN Zornitza Stark gene: GAN was added
gene: GAN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GAN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GAN were set to Giant axonal neuropathy-1, 256850 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GAMT Zornitza Stark gene: GAMT was added
gene: GAMT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GAMT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GAMT were set to Cerebral creatine deficiency syndrome 2, 612736 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GALT Zornitza Stark gene: GALT was added
gene: GALT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GALT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALT were set to Galactosemia, 230400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GALNS Zornitza Stark gene: GALNS was added
gene: GALNS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GALNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALNS were set to Mucopolysaccharidosis IVA, 253000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GALC Zornitza Stark gene: GALC was added
gene: GALC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALC were set to Krabbe disease, 245200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GAA Zornitza Stark gene: GAA was added
gene: GAA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GAA were set to Glycogen storage disease II, 232300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 G6PC3 Zornitza Stark gene: G6PC3 was added
gene: G6PC3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: G6PC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: G6PC3 were set to Dursun syndrome, 612541 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 G6PC Zornitza Stark gene: G6PC was added
gene: G6PC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: G6PC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: G6PC were set to Glycogen storage disease Ia, 232200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FYCO1 Zornitza Stark gene: FYCO1 was added
gene: FYCO1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FYCO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FYCO1 were set to Cataract 18, autosomal recessive, 610019 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FUCA1 Zornitza Stark gene: FUCA1 was added
gene: FUCA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FUCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FUCA1 were set to Fucosidosis, 230000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FTSJ1 Zornitza Stark gene: FTSJ1 was added
gene: FTSJ1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FTSJ1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FTSJ1 were set to Mental retardation, X-linked 9, 309549 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FTO Zornitza Stark gene: FTO was added
gene: FTO was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FTO was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FTO were set to Growth retardation, developmental delay, coarse facies, and early death, 612938 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FTCD Zornitza Stark gene: FTCD was added
gene: FTCD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FTCD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FTCD were set to Glutamate formiminotransferase deficiency, 229100 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FRRS1L Zornitza Stark gene: FRRS1L was added
gene: FRRS1L was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FRRS1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FRRS1L were set to Epileptic encephalopathy, early infantile, 37, 616981 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FREM2 Zornitza Stark gene: FREM2 was added
gene: FREM2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FREM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FREM2 were set to Fraser syndrome, 219000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FREM1 Zornitza Stark gene: FREM1 was added
gene: FREM1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FREM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FREM1 were set to Bifid nose with or without anorectal and renal anomalies, 608980 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FRAS1 Zornitza Stark gene: FRAS1 was added
gene: FRAS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FRAS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FRAS1 were set to Fraser syndrome, 219000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FOXRED1 Zornitza Stark gene: FOXRED1 was added
gene: FOXRED1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FOXRED1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FOXRED1 were set to Mitochondrial complex I deficiency, 252010 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FOXP3 Zornitza Stark gene: FOXP3 was added
gene: FOXP3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FOXP3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FOXP3 were set to Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FOXN1 Zornitza Stark gene: FOXN1 was added
gene: FOXN1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FOXN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FOXN1 were set to T-cell immunodeficiency, congenital alopecia, and nail dystrophy, 601705 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FOXE3 Zornitza Stark gene: FOXE3 was added
gene: FOXE3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FOXE3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FOXE3 were set to Aphakia, congenital primary, 610256 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FOLR1 Zornitza Stark gene: FOLR1 was added
gene: FOLR1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FOLR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FOLR1 were set to Neurodegeneration due to cerebral folate transport deficiency, 613068 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FMR1 Zornitza Stark gene: FMR1 was added
gene: FMR1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FMR1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FMR1 were set to Fragile X syndrome
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FLVCR2 Zornitza Stark gene: FLVCR2 was added
gene: FLVCR2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FLVCR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FLVCR2 were set to Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome, 225790 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FLVCR1 Zornitza Stark gene: FLVCR1 was added
gene: FLVCR1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FLVCR1 were set to Ataxia, posterior column, with retinitis pigmentosa, 609033 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FLNB Zornitza Stark gene: FLNB was added
gene: FLNB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FLNB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FLNB were set to Spondylocarpotarsal synostosis syndrome, 272460 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FLNA Zornitza Stark gene: FLNA was added
gene: FLNA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FLNA were set to FG syndrome 2, 300321 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FLAD1 Zornitza Stark gene: FLAD1 was added
gene: FLAD1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FLAD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FLAD1 were set to Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, 255100 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FKTN Zornitza Stark gene: FKTN was added
gene: FKTN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKTN were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FKRP Zornitza Stark gene: FKRP was added
gene: FKRP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKRP were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FKBP14 Zornitza Stark gene: FKBP14 was added
gene: FKBP14 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FKBP14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKBP14 were set to Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, 614557 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FKBP10 Zornitza Stark gene: FKBP10 was added
gene: FKBP10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FKBP10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKBP10 were set to Bruck syndrome 1, 259450 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FIG4 Zornitza Stark gene: FIG4 was added
gene: FIG4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FIG4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FIG4 were set to Yunis-Varon syndrome, 216340 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FHL1 Zornitza Stark gene: FHL1 was added
gene: FHL1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FHL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FHL1 were set to Emery-Dreifuss muscular dystrophy 6, X-linked, 300696 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FH Zornitza Stark gene: FH was added
gene: FH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FH were set to Fumarase deficiency, 606812 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FGG Zornitza Stark gene: FGG was added
gene: FGG was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FGG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FGG were set to Afibrinogenemia, congenital, 202400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FGD4 Zornitza Stark gene: FGD4 was added
gene: FGD4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FGD4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FGD4 were set to Charcot-Marie-Tooth disease, type 4H, 609311 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FGB Zornitza Stark gene: FGB was added
gene: FGB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FGB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FGB were set to Afibrinogenemia, congenital, 202400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FGA Zornitza Stark gene: FGA was added
gene: FGA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FGA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FGA were set to Afibrinogenemia, congenital, 202400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FERMT3 Zornitza Stark gene: FERMT3 was added
gene: FERMT3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FERMT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FERMT3 were set to Leukocyte adhesion deficiency, type III, 612840 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FERMT1 Zornitza Stark gene: FERMT1 was added
gene: FERMT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FERMT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FERMT1 were set to Kindler syndrome, 173650 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FBXO7 Zornitza Stark gene: FBXO7 was added
gene: FBXO7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FBXO7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FBXO7 were set to Parkinson disease 15, autosomal recessive, 260300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FBXL4 Zornitza Stark gene: FBXL4 was added
gene: FBXL4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FBXL4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FBXL4 were set to Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FBP1 Zornitza Stark gene: FBP1 was added
gene: FBP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FBP1 were set to Fructose-1,6-bisphosphatase deficiency, 229700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FBLN5 Zornitza Stark gene: FBLN5 was added
gene: FBLN5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FBLN5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FBLN5 were set to Cutis laxa, autosomal recessive, type IA, 219100 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FAT4 Zornitza Stark gene: FAT4 was added
gene: FAT4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FAT4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAT4 were set to Hennekam lymphangiectasia-lymphedema syndrome 2, 616006 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FARS2 Zornitza Stark gene: FARS2 was added
gene: FARS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FARS2 were set to Combined oxidative phosphorylation deficiency 14, 614946 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FANCL Zornitza Stark gene: FANCL was added
gene: FANCL was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FANCL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCL were set to Fanconi anemia, complementation group L, 614083 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FANCI Zornitza Stark gene: FANCI was added
gene: FANCI was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FANCI was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCI were set to Fanconi anemia, complementation group I, 609053 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FANCG Zornitza Stark gene: FANCG was added
gene: FANCG was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FANCG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCG were set to Fanconi anemia, complementation group G, 614082 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FANCF Zornitza Stark gene: FANCF was added
gene: FANCF was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FANCF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCF were set to Fanconi anemia, complementation group F, 603467 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FANCE Zornitza Stark gene: FANCE was added
gene: FANCE was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FANCE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCE were set to Fanconi anemia, complementation group E, 600901 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FANCD2 Zornitza Stark gene: FANCD2 was added
gene: FANCD2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCD2 were set to Fanconi anemia, complementation group D2, 227646 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FANCC Zornitza Stark gene: FANCC was added
gene: FANCC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FANCC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCC were set to Fanconi anemia, complementation group C, 227645 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FANCB Zornitza Stark gene: FANCB was added
gene: FANCB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FANCB was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FANCB were set to Fanconi anemia, complementation group B, 300514 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FANCA Zornitza Stark gene: FANCA was added
gene: FANCA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FANCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCA were set to Fanconi anemia, complementation group A, 227650 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FAM20C Zornitza Stark gene: FAM20C was added
gene: FAM20C was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FAM20C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM20C were set to Raine syndrome, 259775 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FAM161A Zornitza Stark gene: FAM161A was added
gene: FAM161A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FAM161A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM161A were set to Retinitis pigmentosa 28, 606068 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FAM126A Zornitza Stark gene: FAM126A was added
gene: FAM126A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FAM126A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM126A were set to Leukodystrophy, hypomyelinating, 5, 610532 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FAH Zornitza Stark gene: FAH was added
gene: FAH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAH were set to Tyrosinemia, type I, 276700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FA2H Zornitza Stark gene: FA2H was added
gene: FA2H was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FA2H were set to Spastic paraplegia 35, autosomal recessive, 612319 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 F9 Zornitza Stark gene: F9 was added
gene: F9 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: F9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: F9 were set to Hemophilia B, 306900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 F8 Zornitza Stark gene: F8 was added
gene: F8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: F8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: F8 were set to Hemophilia A, 306700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 F7 Zornitza Stark gene: F7 was added
gene: F7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: F7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: F7 were set to Factor VII deficiency, 227500 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 F5 Zornitza Stark gene: F5 was added
gene: F5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: F5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: F5 were set to Factor V deficiency, 227400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 F2 Zornitza Stark gene: F2 was added
gene: F2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: F2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: F2 were set to Dysprothrombinemia, 613679 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EXTL3 Zornitza Stark gene: EXTL3 was added
gene: EXTL3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EXTL3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EXTL3 were set to Immunoskeletal dysplasia with neurodevelopmental abnormalities, 617425 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EXOSC8 Zornitza Stark gene: EXOSC8 was added
gene: EXOSC8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EXOSC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EXOSC8 were set to Pontocerebellar hypoplasia, type 1C, 616081 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EXOSC3 Zornitza Stark gene: EXOSC3 was added
gene: EXOSC3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EXOSC3 were set to Pontocerebellar hypoplasia, type 1B, 614678 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EVC2 Zornitza Stark gene: EVC2 was added
gene: EVC2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EVC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EVC2 were set to Ellis-van Creveld syndrome, 225500 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EVC Zornitza Stark gene: EVC was added
gene: EVC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EVC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EVC were set to Ellis-van Creveld syndrome, 225500 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ETHE1 Zornitza Stark gene: ETHE1 was added
gene: ETHE1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ETHE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETHE1 were set to Ethylmalonic encephalopathy, 602473 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ETFDH Zornitza Stark gene: ETFDH was added
gene: ETFDH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFDH were set to Glutaric acidemia IIC, 231680 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ETFB Zornitza Stark gene: ETFB was added
gene: ETFB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFB were set to Glutaric acidemia IIB, 231680 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ETFA Zornitza Stark gene: ETFA was added
gene: ETFA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFA were set to Glutaric acidemia IIA, 231680 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ESCO2 Zornitza Stark gene: ESCO2 was added
gene: ESCO2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ESCO2 were set to SC phocomelia syndrome, 269000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ERCC8 Zornitza Stark gene: ERCC8 was added
gene: ERCC8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ERCC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC8 were set to Cockayne syndrome, type A, 216400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ERCC6L2 Zornitza Stark gene: ERCC6L2 was added
gene: ERCC6L2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ERCC6L2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC6L2 were set to Bone marrow failure syndrome 2, 615715 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ERCC6 Zornitza Stark gene: ERCC6 was added
gene: ERCC6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC6 were set to Cockayne syndrome, type B, 133540 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ERCC5 Zornitza Stark gene: ERCC5 was added
gene: ERCC5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ERCC5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC5 were set to Xeroderma pigmentosum, group G, 278780 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ERCC4 Zornitza Stark gene: ERCC4 was added
gene: ERCC4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC4 were set to Fanconi anemia, complementation group Q, 615272 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ERCC2 Zornitza Stark gene: ERCC2 was added
gene: ERCC2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC2 were set to Cerebrooculofacioskeletal syndrome 2, 610756 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ERBB3 Zornitza Stark gene: ERBB3 was added
gene: ERBB3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ERBB3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERBB3 were set to Lethal congenital contractural syndrome 2, 607598 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EPM2A Zornitza Stark gene: EPM2A was added
gene: EPM2A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EPM2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EPM2A were set to Epilepsy, progressive myoclonic 2A (Lafora), 254780 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EPG5 Zornitza Stark gene: EPG5 was added
gene: EPG5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EPG5 were set to Vici syndrome, 242840 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EPCAM Zornitza Stark gene: EPCAM was added
gene: EPCAM was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EPCAM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EPCAM were set to Diarrhea 5, with tufting enteropathy, congenital, 613217 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EOGT Zornitza Stark gene: EOGT was added
gene: EOGT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EOGT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EOGT were set to Adams-Oliver syndrome 4, 615297 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ENPP1 Zornitza Stark gene: ENPP1 was added
gene: ENPP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ENPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ENPP1 were set to Hypophosphatemic rickets, autosomal recessive, 2, 613312 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EML1 Zornitza Stark gene: EML1 was added
gene: EML1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EML1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EML1 were set to Band heterotopia, 600348 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EMG1 Zornitza Stark gene: EMG1 was added
gene: EMG1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EMG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EMG1 were set to Bowen-Conradi syndrome, 211180 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EMD Zornitza Stark gene: EMD was added
gene: EMD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: EMD were set to Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ELP2 Zornitza Stark gene: ELP2 was added
gene: ELP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ELP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ELP2 were set to Mental retardation, autosomal recessive 58, 617270 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ELP1 Zornitza Stark gene: ELP1 was added
gene: ELP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ELP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ELP1 were set to Dysautonomia, familial, 223900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ELAC2 Zornitza Stark gene: ELAC2 was added
gene: ELAC2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ELAC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ELAC2 were set to Combined oxidative phosphorylation deficiency 17, 615440 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EIF2S3 Zornitza Stark gene: EIF2S3 was added
gene: EIF2S3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EIF2S3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: EIF2S3 were set to MEHMO syndrome, 300148 (3), X-linked recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EIF2B5 Zornitza Stark gene: EIF2B5 was added
gene: EIF2B5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EIF2B5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B5 were set to Leukoencephalopathy with vanishing white matter, 603896 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EIF2B4 Zornitza Stark gene: EIF2B4 was added
gene: EIF2B4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EIF2B4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B4 were set to Leukoencephaly with vanishing white matter, 603896 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EIF2B3 Zornitza Stark gene: EIF2B3 was added
gene: EIF2B3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EIF2B3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B3 were set to Leukoencephalopathy with vanishing white matter, 603896 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EIF2B2 Zornitza Stark gene: EIF2B2 was added
gene: EIF2B2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EIF2B2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B2 were set to Leukoencephalopathy with vanishing white matter, 603896 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EIF2B1 Zornitza Stark gene: EIF2B1 was added
gene: EIF2B1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EIF2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B1 were set to Leukoencephalopathy with vanishing white matter, 603896 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EIF2AK4 Zornitza Stark gene: EIF2AK4 was added
gene: EIF2AK4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EIF2AK4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2AK4 were set to Pulmonary venoocclusive disease 2, 234810 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EIF2AK3 Zornitza Stark gene: EIF2AK3 was added
gene: EIF2AK3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EIF2AK3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2AK3 were set to Wolcott-Rallison syndrome, 226980 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EFNB1 Zornitza Stark gene: EFNB1 was added
gene: EFNB1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EFNB1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: EFNB1 were set to Craniofrontonasal dysplasia, 304110 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EFEMP2 Zornitza Stark gene: EFEMP2 was added
gene: EFEMP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EFEMP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EFEMP2 were set to Cutis laxa, autosomal recessive, type IB, 614437 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EDAR Zornitza Stark gene: EDAR was added
gene: EDAR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EDAR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EDAR were set to Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EDA Zornitza Stark gene: EDA was added
gene: EDA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EDA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EDA were set to Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ECHS1 Zornitza Stark gene: ECHS1 was added
gene: ECHS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ECHS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ECHS1 were set to Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, 616277 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ECEL1 Zornitza Stark gene: ECEL1 was added
gene: ECEL1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ECEL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ECEL1 were set to Arthrogryposis, distal, type 5D, 615065 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EARS2 Zornitza Stark gene: EARS2 was added
gene: EARS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EARS2 were set to Combined oxidative phosphorylation deficiency 12, 614924 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DYSF Zornitza Stark gene: DYSF was added
gene: DYSF was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DYSF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DYSF were set to Muscular dystrophy, limb-girdle, type 2B, 253601 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DYNC2LI1 Zornitza Stark gene: DYNC2LI1 was added
gene: DYNC2LI1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DYNC2LI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DYNC2LI1 were set to Short-rib thoracic dysplasia 15 with polydactyly, 617088 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DYNC2H1 Zornitza Stark gene: DYNC2H1 was added
gene: DYNC2H1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DYNC2H1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DYNC2H1 were set to Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DYM Zornitza Stark gene: DYM was added
gene: DYM was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DYM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DYM were set to Dyggve-Melchior-Clausen disease, 223800 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DSTYK Zornitza Stark gene: DSTYK was added
gene: DSTYK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DSTYK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DSTYK were set to Spastic paraplegia 23, 270750 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DSP Zornitza Stark gene: DSP was added
gene: DSP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DSP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DSP were set to Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DPH1 Zornitza Stark gene: DPH1 was added
gene: DPH1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DPH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DPH1 were set to Developmental delay with short stature, dysmorphic features, and sparse hair, 616901 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DPAGT1 Zornitza Stark gene: DPAGT1 was added
gene: DPAGT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DPAGT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DPAGT1 were set to Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DONSON Zornitza Stark gene: DONSON was added
gene: DONSON was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DONSON was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DONSON were set to Microcephaly, short stature, and limb abnormalities, 617604 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DOLK Zornitza Stark gene: DOLK was added
gene: DOLK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DOLK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DOLK were set to Congenital disorder of glycosylation, type Im, 610768 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DOK7 Zornitza Stark gene: DOK7 was added
gene: DOK7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DOK7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DOK7 were set to Myasthenic syndrome, congenital, 10, 254300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DOCK8 Zornitza Stark gene: DOCK8 was added
gene: DOCK8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DOCK8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DOCK8 were set to Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DOCK6 Zornitza Stark gene: DOCK6 was added
gene: DOCK6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DOCK6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DOCK6 were set to Adams-Oliver syndrome 2, 614219 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DOCK2 Zornitza Stark gene: DOCK2 was added
gene: DOCK2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DOCK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DOCK2 were set to Immunodeficiency 40, 616433 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DNMT3B Zornitza Stark gene: DNMT3B was added
gene: DNMT3B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DNMT3B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNMT3B were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DNAJC6 Zornitza Stark gene: DNAJC6 was added
gene: DNAJC6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DNAJC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAJC6 were set to Parkinson disease 19, juvenile-onset, 615528 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DNAJC21 Zornitza Stark gene: DNAJC21 was added
gene: DNAJC21 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DNAJC21 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAJC21 were set to Bone marrow failure syndrome 3, 617052 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DNAJC19 Zornitza Stark gene: DNAJC19 was added
gene: DNAJC19 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DNAJC19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAJC19 were set to 3-methylglutaconic aciduria, type V, 610198 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DNAJC12 Zornitza Stark gene: DNAJC12 was added
gene: DNAJC12 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DNAJC12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAJC12 were set to Hyperphenylalaninemia, mild, non-BH4-deficient, 617384 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DNAI2 Zornitza Stark gene: DNAI2 was added
gene: DNAI2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DNAI2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAI2 were set to Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DNAI1 Zornitza Stark gene: DNAI1 was added
gene: DNAI1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DNAI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAI1 were set to Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DNAH5 Zornitza Stark gene: DNAH5 was added
gene: DNAH5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DNAH5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAH5 were set to Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DNAH11 Zornitza Stark gene: DNAH11 was added
gene: DNAH11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DNAH11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAH11 were set to Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DNAAF5 Zornitza Stark gene: DNAAF5 was added
gene: DNAAF5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DNAAF5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAAF5 were set to Ciliary dyskinesia, primary, 18, 614874 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DNAAF4 Zornitza Stark gene: DNAAF4 was added
gene: DNAAF4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DNAAF4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAAF4 were set to Ciliary dyskinesia, primary, 25, 615482 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DNAAF3 Zornitza Stark gene: DNAAF3 was added
gene: DNAAF3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DNAAF3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAAF3 were set to Ciliary dyskinesia, primary, 2, 606763 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DNAAF1 Zornitza Stark gene: DNAAF1 was added
gene: DNAAF1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DNAAF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAAF1 were set to Ciliary dyskinesia, primary, 13, 613193 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DMD Zornitza Stark gene: DMD was added
gene: DMD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: DMD were set to Duchenne muscular dystrophy, 310200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DLL3 Zornitza Stark gene: DLL3 was added
gene: DLL3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DLL3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DLL3 were set to Spondylocostal dysostosis 1, autosomal recessive, 277300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DLG3 Zornitza Stark gene: DLG3 was added
gene: DLG3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DLG3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: DLG3 were set to Mental retardation, X-linked 90, 300850 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DLD Zornitza Stark gene: DLD was added
gene: DLD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DLD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DLD were set to Dihydrolipoamide dehydrogenase deficiency, 246900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DKC1 Zornitza Stark gene: DKC1 was added
gene: DKC1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: DKC1 were set to Dyskeratosis congenita, X-linked, 305000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DIS3L2 Zornitza Stark gene: DIS3L2 was added
gene: DIS3L2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DIS3L2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DIS3L2 were set to Perlman syndrome, 267000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DHODH Zornitza Stark gene: DHODH was added
gene: DHODH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DHODH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHODH were set to Miller syndrome, 263750 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DHDDS Zornitza Stark gene: DHDDS was added
gene: DHDDS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DHDDS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHDDS were set to Retinitis pigmentosa 59, 613861 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DHCR7 Zornitza Stark gene: DHCR7 was added
gene: DHCR7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome, 270400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DHCR24 Zornitza Stark gene: DHCR24 was added
gene: DHCR24 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DHCR24 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHCR24 were set to Desmosterolosis, 602398 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DGUOK Zornitza Stark gene: DGUOK was added
gene: DGUOK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DGUOK were set to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DGKE Zornitza Stark gene: DGKE was added
gene: DGKE was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DGKE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DGKE were set to Nephrotic syndrome, type 7, 615008 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DGAT1 Zornitza Stark gene: DGAT1 was added
gene: DGAT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DGAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DGAT1 were set to ?Diarrhea 7, protein-losing enteropathy type
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DENND5A Zornitza Stark gene: DENND5A was added
gene: DENND5A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DENND5A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DENND5A were set to Epileptic encephalopathy, early infantile, 49, 617281 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DDX59 Zornitza Stark gene: DDX59 was added
gene: DDX59 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DDX59 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDX59 were set to Orofaciodigital syndrome V, 174300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DDX11 Zornitza Stark gene: DDX11 was added
gene: DDX11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DDX11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDX11 were set to Warsaw breakage syndrome, 613398 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DDR2 Zornitza Stark gene: DDR2 was added
gene: DDR2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DDR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDR2 were set to Spondylometaepiphyseal dysplasia, short limb-hand type, 271665 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DDHD2 Zornitza Stark gene: DDHD2 was added
gene: DDHD2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DDHD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDHD2 were set to Spastic paraplegia 54, autosomal recessive, 615033 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DDC Zornitza Stark gene: DDC was added
gene: DDC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DDC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDC were set to Aromatic L-amino acid decarboxylase deficiency, 608643 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DCX Zornitza Stark gene: DCX was added
gene: DCX was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DCX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: DCX were set to Lissencephaly, X-linked, 300067 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DCLRE1C Zornitza Stark gene: DCLRE1C was added
gene: DCLRE1C was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DCLRE1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DCLRE1C were set to Severe combined immunodeficiency, Athabascan type, 602450 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DCHS1 Zornitza Stark gene: DCHS1 was added
gene: DCHS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DCHS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DCHS1 were set to Van Maldergem syndrome 1, 601390 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DCDC2 Zornitza Stark gene: DCDC2 was added
gene: DCDC2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DCDC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DCDC2 were set to Nephronophthisis 19, 616217 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DCAF17 Zornitza Stark gene: DCAF17 was added
gene: DCAF17 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DCAF17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DCAF17 were set to Woodhouse-Sakati syndrome, 241080 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DBT Zornitza Stark gene: DBT was added
gene: DBT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DBT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DBT were set to Maple syrup urine disease, type II, 248600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DARS2 Zornitza Stark gene: DARS2 was added
gene: DARS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DARS2 were set to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 DARS Zornitza Stark gene: DARS was added
gene: DARS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DARS were set to Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 D2HGDH Zornitza Stark gene: D2HGDH was added
gene: D2HGDH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: D2HGDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: D2HGDH were set to D-2-hydroxyglutaric aciduria, 600721 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CYP7B1 Zornitza Stark gene: CYP7B1 was added
gene: CYP7B1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP7B1 were set to Bile acid synthesis defect, congenital, 3, 613812 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CYP4F22 Zornitza Stark gene: CYP4F22 was added
gene: CYP4F22 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CYP4F22 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP4F22 were set to Ichthyosis, congenital, autosomal recessive 5, 604777 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CYP2U1 Zornitza Stark gene: CYP2U1 was added
gene: CYP2U1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP2U1 were set to Spastic paraplegia 56, autosomal recessive, 615030 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CYP27A1 Zornitza Stark gene: CYP27A1 was added
gene: CYP27A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis, 213700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CYP1B1 Zornitza Stark gene: CYP1B1 was added
gene: CYP1B1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CYP1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP1B1 were set to Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CYP17A1 Zornitza Stark gene: CYP17A1 was added
gene: CYP17A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CYP17A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP17A1 were set to 17,20-lyase deficiency, isolated, 202110 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CYP11B2 Zornitza Stark gene: CYP11B2 was added
gene: CYP11B2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CYP11B2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP11B2 were set to Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CYP11A1 Zornitza Stark gene: CYP11A1 was added
gene: CYP11A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CYP11A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP11A1 were set to Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CYBB Zornitza Stark gene: CYBB was added
gene: CYBB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CYBB was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CYBB were set to Chronic granulomatous disease, X-linked, 306400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CYBA Zornitza Stark gene: CYBA was added
gene: CYBA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CYBA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYBA were set to Chronic granulomatous disease, autosomal, due to deficiency of CYBA, 233690 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CYB5R3 Zornitza Stark gene: CYB5R3 was added
gene: CYB5R3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CYB5R3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYB5R3 were set to Methemoglobinemia, type I, 250800 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CWC27 Zornitza Stark gene: CWC27 was added
gene: CWC27 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CWC27 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CWC27 were set to Retinitis pigmentosa with or without skeletal anomalies, 250410 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CUL7 Zornitza Stark gene: CUL7 was added
gene: CUL7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CUL7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CUL7 were set to 3-M syndrome 1, 273750 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CUL4B Zornitza Stark gene: CUL4B was added
gene: CUL4B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CUL4B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CUL4B were set to Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CTSK Zornitza Stark gene: CTSK was added
gene: CTSK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CTSK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTSK were set to Pycnodysostosis, 265800 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CTSF Zornitza Stark gene: CTSF was added
gene: CTSF was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CTSF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTSF were set to Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CTSD Zornitza Stark gene: CTSD was added
gene: CTSD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CTSD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTSD were set to Ceroid lipofuscinosis, neuronal, 10, 610127 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CTSC Zornitza Stark gene: CTSC was added
gene: CTSC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CTSC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTSC were set to Papillon-Lefevre syndrome, 245000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CTSA Zornitza Stark gene: CTSA was added
gene: CTSA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CTSA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTSA were set to Galactosialidosis, 256540 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CTPS1 Zornitza Stark gene: CTPS1 was added
gene: CTPS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CTPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTPS1 were set to Immunodeficiency 24, 615897 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CTNS Zornitza Stark gene: CTNS was added
gene: CTNS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CTNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTNS were set to Cystinosis, nephropathic, 219800 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CTC1 Zornitza Stark gene: CTC1 was added
gene: CTC1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CTC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTC1 were set to Cerebroretinal microangiopathy with calcifications and cysts, 612199 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CSTB Zornitza Stark gene: CSTB was added
gene: CSTB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CSTB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CSTB were set to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CSPP1 Zornitza Stark gene: CSPP1 was added
gene: CSPP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CSPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CSPP1 were set to Joubert syndrome 21, 615636 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CRTAP Zornitza Stark gene: CRTAP was added
gene: CRTAP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CRTAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CRTAP were set to Osteogenesis imperfecta, type VII, 610682 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ISPD Zornitza Stark gene: ISPD was added
gene: ISPD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ISPD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ISPD were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CRLF1 Zornitza Stark gene: CRLF1 was added
gene: CRLF1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CRLF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CRLF1 were set to Cold-induced sweating syndrome 1, 272430 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CRB2 Zornitza Stark gene: CRB2 was added
gene: CRB2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CRB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CRB2 were set to Ventriculomegaly with cystic kidney disease, 219730 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CRB1 Zornitza Stark gene: CRB1 was added
gene: CRB1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CRB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CRB1 were set to Leber congenital amaurosis 8, 613835 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CPT2 Zornitza Stark gene: CPT2 was added
gene: CPT2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CPT2 were set to CPT II deficiency, lethal neonatal, 608836 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CPT1A Zornitza Stark gene: CPT1A was added
gene: CPT1A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CPT1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CPT1A were set to CPT deficiency, hepatic, type IA, 255120 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CPS1 Zornitza Stark gene: CPS1 was added
gene: CPS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CPS1 were set to Carbamoylphosphate synthetase I deficiency, 237300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 C5orf42 Zornitza Stark gene: C5orf42 was added
gene: C5orf42 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C5orf42 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C5orf42 were set to Joubert syndrome 17, 614615 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COX20 Zornitza Stark gene: COX20 was added
gene: COX20 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COX20 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX20 were set to Mitochondrial complex IV deficiency, 220110 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COX15 Zornitza Stark gene: COX15 was added
gene: COX15 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COX15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX15 were set to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COX10 Zornitza Stark gene: COX10 was added
gene: COX10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COX10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX10 were set to Leigh syndrome due to mitochondrial COX4 deficiency, 256000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COQ8B Zornitza Stark gene: COQ8B was added
gene: COQ8B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COQ8B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ8B were set to Nephrotic syndrome, type 9, 615573 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COQ8A Zornitza Stark gene: COQ8A was added
gene: COQ8A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ8A were set to Coenzyme Q10 deficiency, primary, 4, 612016 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COQ6 Zornitza Stark gene: COQ6 was added
gene: COQ6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COQ6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ6 were set to Coenzyme Q10 deficiency, primary, 6, 614650 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COQ4 Zornitza Stark gene: COQ4 was added
gene: COQ4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COQ4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ4 were set to Coenzyme Q10 deficiency, primary, 7, 616276 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COQ2 Zornitza Stark gene: COQ2 was added
gene: COQ2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COQ2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ2 were set to Coenzyme Q10 deficiency, primary, 1, 607426 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COLQ Zornitza Stark gene: COLQ was added
gene: COLQ was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COLQ was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COLQ were set to Myasthenic syndrome, congenital, 5, 603034 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COLEC11 Zornitza Stark gene: COLEC11 was added
gene: COLEC11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COLEC11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COLEC11 were set to 3MC syndrome 2, 265050 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COL7A1 Zornitza Stark gene: COL7A1 was added
gene: COL7A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL7A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL7A1 were set to Epidermolysis bullosa dystrophica, AR, 226600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COL6A3 Zornitza Stark gene: COL6A3 was added
gene: COL6A3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL6A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL6A3 were set to Ullrich congenital muscular dystrophy 1, 254090 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COL6A2 Zornitza Stark gene: COL6A2 was added
gene: COL6A2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL6A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL6A2 were set to Ullrich congenital muscular dystrophy 1, 254090 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COL6A1 Zornitza Stark gene: COL6A1 was added
gene: COL6A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL6A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL6A1 were set to Ullrich congenital muscular dystrophy 1, 254090 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COL4A5 Zornitza Stark gene: COL4A5 was added
gene: COL4A5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL4A5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: COL4A5 were set to Alport syndrome 1, X-linked
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COL4A4 Zornitza Stark gene: COL4A4 was added
gene: COL4A4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL4A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL4A4 were set to Alport syndrome, autosomal recessive, 203780 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COL4A3 Zornitza Stark gene: COL4A3 was added
gene: COL4A3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL4A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL4A3 were set to Alport syndrome, autosomal recessive, 203780 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COL2A1 Zornitza Stark gene: COL2A1 was added
gene: COL2A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL2A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL2A1 were set to Otospondylomegaepiphyseal dysplasia, 215150 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COL27A1 Zornitza Stark gene: COL27A1 was added
gene: COL27A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL27A1 were set to Steel Syndrome
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COL18A1 Zornitza Stark gene: COL18A1 was added
gene: COL18A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL18A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL18A1 were set to Knobloch syndrome, type 1, 267750 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COL17A1 Zornitza Stark gene: COL17A1 was added
gene: COL17A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL17A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL17A1 were set to Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COL11A2 Zornitza Stark gene: COL11A2 was added
gene: COL11A2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL11A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL11A2 were set to Fibrochondrogenesis 2, 614524 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COL11A1 Zornitza Stark gene: COL11A1 was added
gene: COL11A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL11A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL11A1 were set to Fibrochondrogenesis 1, 228520 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COG7 Zornitza Stark gene: COG7 was added
gene: COG7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COG7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COG7 were set to Congenital disorder of glycosylation, type IIe, 608779 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 COG6 Zornitza Stark gene: COG6 was added
gene: COG6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COG6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COG6 were set to Congenital disorder of glycosylation, type IIl, 614576 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 APOPT1 Zornitza Stark gene: APOPT1 was added
gene: APOPT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: APOPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APOPT1 were set to Mitochondrial complex IV deficiency, 220110 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CNTNAP2 Zornitza Stark gene: CNTNAP2 was added
gene: CNTNAP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CNTNAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CNTNAP2 were set to Cortical dysplasia-focal epilepsy syndrome, 610042 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CNTNAP1 Zornitza Stark gene: CNTNAP1 was added
gene: CNTNAP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CNTNAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CNTNAP1 were set to Lethal congenital contracture syndrome 7, 616286 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CNNM4 Zornitza Stark gene: CNNM4 was added
gene: CNNM4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CNNM4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CNNM4 were set to Jalili syndrome, 217080 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CNGB3 Zornitza Stark gene: CNGB3 was added
gene: CNGB3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CNGB3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CNGB3 were set to Macular degeneration, juvenile, 248200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CNGA3 Zornitza Stark gene: CNGA3 was added
gene: CNGA3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CNGA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CNGA3 were set to Achromatopsia-2, 216900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CLRN1 Zornitza Stark gene: CLRN1 was added
gene: CLRN1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLRN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLRN1 were set to Usher syndrome, type 3A, 276902 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CLPP Zornitza Stark gene: CLPP was added
gene: CLPP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLPP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLPP were set to Perrault syndrome 3, 614129 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CLPB Zornitza Stark gene: CLPB was added
gene: CLPB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLPB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLPB were set to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CLP1 Zornitza Stark gene: CLP1 was added
gene: CLP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLP1 were set to Pontocerebellar hypoplasia, type 10, 615803 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CLN8 Zornitza Stark gene: CLN8 was added
gene: CLN8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLN8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN8 were set to Ceroid lipofuscinosis, neuronal, 8, 600143 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CLN6 Zornitza Stark gene: CLN6 was added
gene: CLN6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLN6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN6 were set to Ceroid lipofuscinosis, neuronal 6, 601780 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CLN5 Zornitza Stark gene: CLN5 was added
gene: CLN5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLN5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN5 were set to Ceroid lipofuscinosis, neuronal, 5, 256731 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CLN3 Zornitza Stark gene: CLN3 was added
gene: CLN3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLN3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN3 were set to Ceroid lipofuscinosis, neuronal, 3, 204200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CLMP Zornitza Stark gene: CLMP was added
gene: CLMP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLMP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLMP were set to Congenital short bowel syndrome, 615237 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CLDN19 Zornitza Stark gene: CLDN19 was added
gene: CLDN19 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLDN19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLDN19 were set to Hypomagnesemia 5, renal, with ocular involvement, 248190 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CLDN10 Zornitza Stark gene: CLDN10 was added
gene: CLDN10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLDN10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLDN10 were set to HELIX syndrome, 617671 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CLDN1 Zornitza Stark gene: CLDN1 was added
gene: CLDN1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLDN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLDN1 were set to Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CLCNKB Zornitza Stark gene: CLCNKB was added
gene: CLCNKB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLCNKB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLCNKB were set to Bartter syndrome, type 4b, digenic, 613090 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CLCN7 Zornitza Stark gene: CLCN7 was added
gene: CLCN7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLCN7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLCN7 were set to Osteopetrosis, autosomal recessive 4, 611490 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CLCN5 Zornitza Stark gene: CLCN5 was added
gene: CLCN5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLCN5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CLCN5 were set to Dent disease, 300009 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CLCN4 Zornitza Stark gene: CLCN4 was added
gene: CLCN4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLCN4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CLCN4 were set to Mental retardation, X-linked 49/15, 300114 (3), X-linked recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CLCN2 Zornitza Stark gene: CLCN2 was added
gene: CLCN2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLCN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLCN2 were set to Leukoencephalopathy with ataxia, 615651 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CLCF1 Zornitza Stark gene: CLCF1 was added
gene: CLCF1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLCF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLCF1 were set to Cold-induced sweating syndrome 2, 610313 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CKAP2L Zornitza Stark gene: CKAP2L was added
gene: CKAP2L was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CKAP2L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CKAP2L were set to Filippi syndrome, 272440 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CIT Zornitza Stark gene: CIT was added
gene: CIT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CIT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CIT were set to Microcephaly 17, primary, autosomal recessive, 617090 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CISD2 Zornitza Stark gene: CISD2 was added
gene: CISD2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CISD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CISD2 were set to Wolfram syndrome 2, 604928 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CIITA Zornitza Stark gene: CIITA was added
gene: CIITA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CIITA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CIITA were set to Bare lymphocyte syndrome, type II, complementation group A, 209920 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CIB2 Zornitza Stark gene: CIB2 was added
gene: CIB2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CIB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CIB2 were set to Usher syndrome, type IJ, 614869 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CHSY1 Zornitza Stark gene: CHSY1 was added
gene: CHSY1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CHSY1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHSY1 were set to Temtamy preaxial brachydactyly syndrome, 605282 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CHST3 Zornitza Stark gene: CHST3 was added
gene: CHST3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CHST3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHST3 were set to Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CHST14 Zornitza Stark gene: CHST14 was added
gene: CHST14 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CHST14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHST14 were set to Ehlers-Danlos syndrome, musculocontractural type 1, 601776 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CHRNG Zornitza Stark gene: CHRNG was added
gene: CHRNG was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CHRNG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRNG were set to Escobar syndrome, 265000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CHRNE Zornitza Stark gene: CHRNE was added
gene: CHRNE was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CHRNE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRNE were set to Myasthenic syndrome, congenital, 4A, slow-channel, 605809 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CHRND Zornitza Stark gene: CHRND was added
gene: CHRND was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CHRND was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRND were set to Myasthenic syndrome, congenital, 3B, fast-channel, 616322 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CHRNA1 Zornitza Stark gene: CHRNA1 was added
gene: CHRNA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CHRNA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRNA1 were set to Multiple pterygium syndrome, lethal type, 253290 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CHM Zornitza Stark gene: CHM was added
gene: CHM was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CHM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CHM were set to Choroideremia
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CHKB Zornitza Stark gene: CHKB was added
gene: CHKB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CHKB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHKB were set to Muscular dystrophy, congenital, megaconial type, 602541 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CHAT Zornitza Stark gene: CHAT was added
gene: CHAT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CHAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHAT were set to Myasthenic syndrome, congenital, 6, presynaptic, 254210 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CFTR Zornitza Stark gene: CFTR was added
gene: CFTR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CFTR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFTR were set to Cystic fibrosis, 219700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CFP Zornitza Stark gene: CFP was added
gene: CFP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CFP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CFP were set to Properdin deficiency, X-linked, 312060 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CFL2 Zornitza Stark gene: CFL2 was added
gene: CFL2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CFL2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFL2 were set to Nemaline myopathy 7, autosomal recessive, 610687 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CFI Zornitza Stark gene: CFI was added
gene: CFI was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CFI was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFI were set to Complement factor I deficiency, 610984 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CFH Zornitza Stark gene: CFH was added
gene: CFH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CFH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFH were set to Complement factor H deficiency, 609814 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CFD Zornitza Stark gene: CFD was added
gene: CFD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CFD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFD were set to Complement factor D deficiency, 613912 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 C21orf2 Zornitza Stark gene: C21orf2 was added
gene: C21orf2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C21orf2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C21orf2 were set to Retinal dystrophy with macular staphyloma, 617547 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CERS3 Zornitza Stark gene: CERS3 was added
gene: CERS3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CERS3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CERS3 were set to Ichthyosis, congenital, autosomal recessive 9, 615023 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CEP78 Zornitza Stark gene: CEP78 was added
gene: CEP78 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CEP78 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP78 were set to Cone-rod dystrophy and hearing loss, 617236 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CEP41 Zornitza Stark gene: CEP41 was added
gene: CEP41 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CEP41 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP41 were set to Joubert syndrome 15, 614464 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CEP290 Zornitza Stark gene: CEP290 was added
gene: CEP290 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP290 were set to Joubert syndrome 5, 610188 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CEP152 Zornitza Stark gene: CEP152 was added
gene: CEP152 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CEP152 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP152 were set to Seckel syndrome 5, 613823 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CEP120 Zornitza Stark gene: CEP120 was added
gene: CEP120 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CEP120 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP120 were set to Short-rib thoracic dysplasia 13 with or without polydactyly, 616300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CENPJ Zornitza Stark gene: CENPJ was added
gene: CENPJ was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CENPJ was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CENPJ were set to Microcephaly 6, primary, autosomal recessive, 608393 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CDT1 Zornitza Stark gene: CDT1 was added
gene: CDT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CDT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDT1 were set to Meier-Gorlin syndrome 4, 613804 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CDK5RAP2 Zornitza Stark gene: CDK5RAP2 was added
gene: CDK5RAP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CDK5RAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDK5RAP2 were set to Microcephaly 3, primary, autosomal recessive, 604804 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CDK10 Zornitza Stark gene: CDK10 was added
gene: CDK10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CDK10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDK10 were set to Al Kaissi syndrome, 617694 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CDH3 Zornitza Stark gene: CDH3 was added
gene: CDH3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CDH3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDH3 were set to Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CDH23 Zornitza Stark gene: CDH23 was added
gene: CDH23 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CDH23 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDH23 were set to Usher syndrome, type 1D, 601067 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CDH11 Zornitza Stark gene: CDH11 was added
gene: CDH11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CDH11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDH11 were set to Elsahy-Waters syndrome, 211380 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CDC45 Zornitza Stark gene: CDC45 was added
gene: CDC45 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CDC45 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDC45 were set to Meier-Gorlin syndrome 7, 617063 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CD81 Zornitza Stark gene: CD81 was added
gene: CD81 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CD81 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CD81 were set to Immunodeficiency, common variable, 6, 613496 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CD55 Zornitza Stark gene: CD55 was added
gene: CD55 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CD55 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CD55 were set to Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, 226300 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CD40LG Zornitza Stark gene: CD40LG was added
gene: CD40LG was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CD40LG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CD40LG were set to Immunodeficiency, X-linked, with hyper-IgM, 308230 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CD40 Zornitza Stark gene: CD40 was added
gene: CD40 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CD40 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CD40 were set to Immunodeficiency with hyper-IgM, type 3, 606843 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CD3D Zornitza Stark gene: CD3D was added
gene: CD3D was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CD3D was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CD3D were set to Immunodeficiency 19, 615617 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CD27 Zornitza Stark gene: CD27 was added
gene: CD27 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CD27 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CD27 were set to Lymphoproliferative syndrome 2, 615122 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CCNO Zornitza Stark gene: CCNO was added
gene: CCNO was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CCNO was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCNO were set to Ciliary diskinesia, primary, 29, 615872 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 WISP3 Zornitza Stark gene: WISP3 was added
gene: WISP3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WISP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WISP3 were set to Arthropathy, progressive pseudorheumatoid, of childhood, 208230 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CCDC88C Zornitza Stark gene: CCDC88C was added
gene: CCDC88C was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CCDC88C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC88C were set to Hydrocephalus, nonsyndromic, autosomal recessive, 236600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CCDC8 Zornitza Stark gene: CCDC8 was added
gene: CCDC8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CCDC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC8 were set to 3-M syndrome 3, 614205 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CCDC40 Zornitza Stark gene: CCDC40 was added
gene: CCDC40 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CCDC40 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC40 were set to Ciliary dyskinesia, primary, 15, 613808 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CCDC39 Zornitza Stark gene: CCDC39 was added
gene: CCDC39 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CCDC39 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC39 were set to Ciliary dyskinesia, primary, 14, 613807 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CCDC115 Zornitza Stark gene: CCDC115 was added
gene: CCDC115 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CCDC115 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC115 were set to Congenital disorder of glycosylation, type IIo, 616828 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CCDC114 Zornitza Stark gene: CCDC114 was added
gene: CCDC114 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CCDC114 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC114 were set to Ciliary dyskinesia, primary, 20, 615067 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CCDC103 Zornitza Stark gene: CCDC103 was added
gene: CCDC103 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CCDC103 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC103 were set to Ciliary dyskinesia, primary, 17, 614679 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CCBE1 Zornitza Stark gene: CCBE1 was added
gene: CCBE1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CCBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCBE1 were set to Hennekam lymphangiectasia-lymphedema syndrome 1, 235510 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CC2D2A Zornitza Stark gene: CC2D2A was added
gene: CC2D2A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CC2D2A were set to Joubert syndrome 9, 612285 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CC2D1A Zornitza Stark gene: CC2D1A was added
gene: CC2D1A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CC2D1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CC2D1A were set to Mental retardation, autosomal recessive 3, 608443 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CBS Zornitza Stark gene: CBS was added
gene: CBS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CBS were set to Homocystinuria, B6-responsive and nonresponsive types, 236200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CAVIN1 Zornitza Stark gene: CAVIN1 was added
gene: CAVIN1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CAVIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CAVIN1 were set to Lipodystrophy, congenital generalized, type 4, 613327 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CASR Zornitza Stark gene: CASR was added
gene: CASR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CASR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CASR were set to Hyperparathyroidism, neonatal, 239200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CASQ2 Zornitza Stark gene: CASQ2 was added
gene: CASQ2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CASQ2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CASQ2 were set to Ventricular tachycardia, catecholaminergic polymorphic, 2, 611938 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CASK Zornitza Stark gene: CASK was added
gene: CASK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CASK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CASK were set to Mental retardation, with or without nystagmus
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CARS2 Zornitza Stark gene: CARS2 was added
gene: CARS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CARS2 were set to Combined oxidative phosphorylation deficiency 27, 616672 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CARD9 Zornitza Stark gene: CARD9 was added
gene: CARD9 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CARD9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CARD9 were set to Candidiasis, familial, 2, autosomal recessive, 212050 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CARD11 Zornitza Stark gene: CARD11 was added
gene: CARD11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CARD11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CARD11 were set to Immunodeficiency 11, 615206 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CAPN3 Zornitza Stark gene: CAPN3 was added
gene: CAPN3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CAPN3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CAPN3 were set to Muscular dystrophy, limb-girdle, type 2A, 253600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CANT1 Zornitza Stark gene: CANT1 was added
gene: CANT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CANT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CANT1 were set to Desbuquois dysplasia, 251450 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CABP4 Zornitza Stark gene: CABP4 was added
gene: CABP4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CABP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CABP4 were set to Cone-rod synaptic disorder, congenital nonprogressive, 610427 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 CA2 Zornitza Stark gene: CA2 was added
gene: CA2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CA2 were set to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 C8orf37 Zornitza Stark gene: C8orf37 was added
gene: C8orf37 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C8orf37 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C8orf37 were set to Cone-rod dystrophy 16, 614500 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 C8B Zornitza Stark gene: C8B was added
gene: C8B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C8B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C8B were set to C8 deficiency, type II, 613789 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 C7 Zornitza Stark gene: C7 was added
gene: C7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C7 were set to C7 deficiency, 610102 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 C6 Zornitza Stark gene: C6 was added
gene: C6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C6 were set to C6 deficiency, 612446 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 C5 Zornitza Stark gene: C5 was added
gene: C5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C5 were set to C5 deficiency, 609536 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 C3 Zornitza Stark gene: C3 was added
gene: C3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C3 were set to C3 deficiency, 613779 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 C2CD3 Zornitza Stark gene: C2CD3 was added
gene: C2CD3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C2CD3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C2CD3 were set to Orofaciodigital syndrome XIV
Mackenzie's Mission_Reproductive Carrier Screening v0.0 C1QC Zornitza Stark gene: C1QC was added
gene: C1QC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C1QC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C1QC were set to C1q deficiency, 613652 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 C1QB Zornitza Stark gene: C1QB was added
gene: C1QB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C1QB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C1QB were set to C1q deficiency, 613652 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 C1QA Zornitza Stark gene: C1QA was added
gene: C1QA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C1QA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C1QA were set to C1q deficiency, 613652 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 C19orf12 Zornitza Stark gene: C19orf12 was added
gene: C19orf12 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C19orf12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C19orf12 were set to Neurodegeneration with brain iron accumulation 4, 614298 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 C12orf65 Zornitza Stark gene: C12orf65 was added
gene: C12orf65 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C12orf65 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C12orf65 were set to Combined oxidative phosphorylation deficiency 7, 613559 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 C12orf57 Zornitza Stark gene: C12orf57 was added
gene: C12orf57 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C12orf57 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C12orf57 were set to Temtamy syndrome, 218340 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BUB1B Zornitza Stark gene: BUB1B was added
gene: BUB1B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BUB1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BUB1B were set to Mosaic variegated aneuploidy syndrome 1, 257300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BTK Zornitza Stark gene: BTK was added
gene: BTK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BTK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: BTK were set to Agammaglobulinemia and isolated hormone deficiency, 307200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BSND Zornitza Stark gene: BSND was added
gene: BSND was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BSND was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BSND were set to Bartter syndrome, type 4a, 602522 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BSCL2 Zornitza Stark gene: BSCL2 was added
gene: BSCL2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BSCL2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BSCL2 were set to Encephalopathy, progressive, with or without lipodystrophy, 615924 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BRWD3 Zornitza Stark gene: BRWD3 was added
gene: BRWD3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BRWD3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: BRWD3 were set to Mental retardation, X-linked 93, 300659 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BRF1 Zornitza Stark gene: BRF1 was added
gene: BRF1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BRF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BRF1 were set to Cerebellofaciodental syndrome, 616202 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BRAT1 Zornitza Stark gene: BRAT1 was added
gene: BRAT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BRAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BRAT1 were set to Rigidity and multifocal seizure syndrome, lethal neonatal, 614498 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BOLA3 Zornitza Stark gene: BOLA3 was added
gene: BOLA3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BOLA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BOLA3 were set to Multiple mitochondrial dysfunctions syndrome 2, 614299 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BMPR1B Zornitza Stark gene: BMPR1B was added
gene: BMPR1B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BMPR1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BMPR1B were set to Acromesomelic dysplasia, Demirhan type, 609441 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BMPER Zornitza Stark gene: BMPER was added
gene: BMPER was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BMPER was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BMPER were set to Diaphanospondylodysostosis, 608022 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BLM Zornitza Stark gene: BLM was added
gene: BLM was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BLM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BLM were set to Bloom syndrome, 210900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BIN1 Zornitza Stark gene: BIN1 was added
gene: BIN1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BIN1 were set to Myopathy, centronuclear, autosomal recessive, 255200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BGN Zornitza Stark gene: BGN was added
gene: BGN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BGN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: BGN were set to Meester-Loeys syndrome, 300989 (3), X-linked
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BCS1L Zornitza Stark gene: BCS1L was added
gene: BCS1L was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCS1L were set to GRACILE syndrome, 603358 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BCKDK Zornitza Stark gene: BCKDK was added
gene: BCKDK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BCKDK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCKDK were set to Branched-chain ketoacid dehydrogenase kinase deficiency, 614923 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BCKDHB Zornitza Stark gene: BCKDHB was added
gene: BCKDHB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BCKDHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCKDHB were set to Maple syrup urine disease, type Ib, 248600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BCKDHA Zornitza Stark gene: BCKDHA was added
gene: BCKDHA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BCKDHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCKDHA were set to Maple syrup urine disease, type Ia, 248600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BBS9 Zornitza Stark gene: BBS9 was added
gene: BBS9 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BBS9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS9 were set to Bardet-Biedl syndrome 9, 615986 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BBS7 Zornitza Stark gene: BBS7 was added
gene: BBS7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BBS7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS7 were set to Bardet-Biedl syndrome 7, 615984 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BBS5 Zornitza Stark gene: BBS5 was added
gene: BBS5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BBS5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS5 were set to Bardet-Biedl syndrome 5, 615983 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BBS4 Zornitza Stark gene: BBS4 was added
gene: BBS4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BBS4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS4 were set to Bardet-Biedl syndrome 4, 615982 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BBS2 Zornitza Stark gene: BBS2 was added
gene: BBS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BBS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS2 were set to Bardet-Biedl syndrome 2, 615981 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BBS12 Zornitza Stark gene: BBS12 was added
gene: BBS12 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BBS12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS12 were set to Bardet-Biedl syndrome 12, 615989 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BBS10 Zornitza Stark gene: BBS10 was added
gene: BBS10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BBS10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS10 were set to Bardet-Biedl syndrome 10, 615987 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 BBS1 Zornitza Stark gene: BBS1 was added
gene: BBS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BBS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS1 were set to Bardet-Biedl syndrome 1, 209900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 B4GALT7 Zornitza Stark gene: B4GALT7 was added
gene: B4GALT7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: B4GALT7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B4GALT7 were set to Ehlers-Danlos syndrome, progeroid type, 1, 130070 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 B4GALNT1 Zornitza Stark gene: B4GALNT1 was added
gene: B4GALNT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: B4GALNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B4GALNT1 were set to Spastic paraplegia 26, autosomal recessive, 609195 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 B3GLCT Zornitza Stark gene: B3GLCT was added
gene: B3GLCT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: B3GLCT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B3GLCT were set to Peters-plus syndrome, 261540 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 B3GAT3 Zornitza Stark gene: B3GAT3 was added
gene: B3GAT3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: B3GAT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B3GAT3 were set to Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 B3GALT6 Zornitza Stark gene: B3GALT6 was added
gene: B3GALT6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: B3GALT6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B3GALT6 were set to Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, 271640 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 B3GALNT2 Zornitza Stark gene: B3GALNT2 was added
gene: B3GALNT2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: B3GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B3GALNT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, 615181 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AUH Zornitza Stark gene: AUH was added
gene: AUH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AUH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AUH were set to 3-methylglutaconic aciduria, type I, 250950 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ATRX Zornitza Stark gene: ATRX was added
gene: ATRX was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATRX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ATRX were set to Mental retardation-hypotonic facies syndrome, X-linked, 309580 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ATR Zornitza Stark gene: ATR was added
gene: ATR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATR were set to Seckel syndrome 1, 210600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ATP8B1 Zornitza Stark gene: ATP8B1 was added
gene: ATP8B1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATP8B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP8B1 were set to Cholestasis, progressive familial intrahepatic 1, 211600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ATP8A2 Zornitza Stark gene: ATP8A2 was added
gene: ATP8A2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATP8A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP8A2 were set to ?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ATP7B Zornitza Stark gene: ATP7B was added
gene: ATP7B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP7B were set to Wilson disease, 277900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ATP7A Zornitza Stark gene: ATP7A was added
gene: ATP7A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ATP7A were set to Menkes disease, 309400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ATP6V1B1 Zornitza Stark gene: ATP6V1B1 was added
gene: ATP6V1B1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATP6V1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP6V1B1 were set to Renal tubular acidosis with deafness, 267300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ATP6V0A4 Zornitza Stark gene: ATP6V0A4 was added
gene: ATP6V0A4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATP6V0A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP6V0A4 were set to Renal tubular acidosis, distal, autosomal recessive, 602722 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ATP6V0A2 Zornitza Stark gene: ATP6V0A2 was added
gene: ATP6V0A2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATP6V0A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP6V0A2 were set to Cutis laxa, autosomal recessive, type IIA, 219200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ATP6AP1 Zornitza Stark gene: ATP6AP1 was added
gene: ATP6AP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATP6AP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ATP6AP1 were set to Immunodeficiency 47, 300972 (3), X-linked recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ATP13A2 Zornitza Stark gene: ATP13A2 was added
gene: ATP13A2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP13A2 were set to Spastic paraplegia 78, autosomal recessive, 617225 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ATOH7 Zornitza Stark gene: ATOH7 was added
gene: ATOH7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATOH7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATOH7 were set to Persistent hyperplastic primary vitreous, autosomal recessive, 221900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ATM Zornitza Stark gene: ATM was added
gene: ATM was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATM were set to Ataxia-telangiectasia, 208900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ATF6 Zornitza Stark gene: ATF6 was added
gene: ATF6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATF6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATF6 were set to Achromatopsia 7, 616517 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ATCAY Zornitza Stark gene: ATCAY was added
gene: ATCAY was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATCAY was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATCAY were set to Ataxia, cerebellar, Cayman type, 601238 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ATAD1 Zornitza Stark gene: ATAD1 was added
gene: ATAD1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATAD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATAD1 were set to Hyperekplexia 4, 618011 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ASS1 Zornitza Stark gene: ASS1 was added
gene: ASS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ASS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASS1 were set to Citrullinemia, 215700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ASPM Zornitza Stark gene: ASPM was added
gene: ASPM was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ASPM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASPM were set to Microcephaly 5, primary, autosomal recessive, 608716 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ASPA Zornitza Stark gene: ASPA was added
gene: ASPA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ASPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASPA were set to Canavan disease, 271900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ASNS Zornitza Stark gene: ASNS was added
gene: ASNS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ASNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASNS were set to Asparagine synthetase deficiency, 615574 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ASL Zornitza Stark gene: ASL was added
gene: ASL was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASL were set to Argininosuccinic aciduria, 207900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ASCC1 Zornitza Stark gene: ASCC1 was added
gene: ASCC1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ASCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASCC1 were set to Barrett esophagus/esophageal adenocarcinoma, 614266 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ASAH1 Zornitza Stark gene: ASAH1 was added
gene: ASAH1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ASAH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASAH1 were set to Farber lipogranulomatosis, 228000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ARX Zornitza Stark gene: ARX was added
gene: ARX was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ARX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ARX were set to Hydranencephaly with abnormal genitalia, 300215 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ARV1 Zornitza Stark gene: ARV1 was added
gene: ARV1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ARV1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARV1 were set to Epileptic encephalopathy, early infantile, 38, 617020 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ARSB Zornitza Stark gene: ARSB was added
gene: ARSB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ARSB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARSB were set to Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ARSA Zornitza Stark gene: ARSA was added
gene: ARSA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARSA were set to Metachromatic leukodystrophy, 250100 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ARPC1B Zornitza Stark gene: ARPC1B was added
gene: ARPC1B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ARPC1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARPC1B were set to Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, 617718 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ARMC4 Zornitza Stark gene: ARMC4 was added
gene: ARMC4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ARMC4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARMC4 were set to Ciliary dyskinesia, primary, 23, 615451 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ARL6 Zornitza Stark gene: ARL6 was added
gene: ARL6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ARL6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARL6 were set to Bardet-Biedl syndrome 3, 600151 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ARL13B Zornitza Stark gene: ARL13B was added
gene: ARL13B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ARL13B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARL13B were set to Joubert syndrome 8, 612291 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ARHGEF9 Zornitza Stark gene: ARHGEF9 was added
gene: ARHGEF9 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ARHGEF9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ARHGEF9 were set to Epileptic encephalopathy, early infantile, 8, 300607 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ARG1 Zornitza Stark gene: ARG1 was added
gene: ARG1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARG1 were set to Argininemia, 207800 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ARFGEF2 Zornitza Stark gene: ARFGEF2 was added
gene: ARFGEF2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ARFGEF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARFGEF2 were set to Periventricular heterotopia with microcephaly, 608097 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AQP2 Zornitza Stark gene: AQP2 was added
gene: AQP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AQP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AQP2 were set to Diabetes insipidus, nephrogenic, 125800 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 APTX Zornitza Stark gene: APTX was added
gene: APTX was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APTX were set to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AP4S1 Zornitza Stark gene: AP4S1 was added
gene: AP4S1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AP4S1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP4S1 were set to Spastic paraplegia 52, autosomal recessive, 614067 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AP4M1 Zornitza Stark gene: AP4M1 was added
gene: AP4M1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AP4M1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP4M1 were set to Spastic paraplegia 50, autosomal recessive, 612936 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AP4B1 Zornitza Stark gene: AP4B1 was added
gene: AP4B1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AP4B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP4B1 were set to Spastic paraplegia 47, autosomal recessive, 614066 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AP3B2 Zornitza Stark gene: AP3B2 was added
gene: AP3B2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AP3B2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP3B2 were set to Epileptic encephalopathy, early infantile, 48, 617276 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AP1S2 Zornitza Stark gene: AP1S2 was added
gene: AP1S2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AP1S2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AP1S2 were set to Mental retardation, X-linked syndromic 5, 304340 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ANTXR2 Zornitza Stark gene: ANTXR2 was added
gene: ANTXR2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ANTXR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ANTXR2 were set to Hyaline fibromatosis syndrome, 228600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ANTXR1 Zornitza Stark gene: ANTXR1 was added
gene: ANTXR1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ANTXR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ANTXR1 were set to GAPO syndrome, 230740 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ANKS6 Zornitza Stark gene: ANKS6 was added
gene: ANKS6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ANKS6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ANKS6 were set to Nephronophthisis 16, 615382 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AMT Zornitza Stark gene: AMT was added
gene: AMT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AMT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AMT were set to Glycine encephalopathy, 605899 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AMPD2 Zornitza Stark gene: AMPD2 was added
gene: AMPD2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AMPD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AMPD2 were set to Pontocerebellar hypoplasia, type 9, 615809 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ALS2 Zornitza Stark gene: ALS2 was added
gene: ALS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALS2 were set to Primary lateral sclerosis, juvenile, 606353 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ALPL Zornitza Stark gene: ALPL was added
gene: ALPL was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALPL were set to Hypophosphatasia, infantile, 241500 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ALOXE3 Zornitza Stark gene: ALOXE3 was added
gene: ALOXE3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALOXE3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALOXE3 were set to Ichthyosis, congenital, autosomal recessive 3, 606545 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ALOX12B Zornitza Stark gene: ALOX12B was added
gene: ALOX12B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALOX12B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALOX12B were set to Ichthyosis, congenital, autosomal recessive 2, 242100 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ALMS1 Zornitza Stark gene: ALMS1 was added
gene: ALMS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALMS1 were set to Alstrom syndrome, 203800 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ALG9 Zornitza Stark gene: ALG9 was added
gene: ALG9 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALG9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG9 were set to Congenital disorder of glycosylation, type Il, 608776 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ALG8 Zornitza Stark gene: ALG8 was added
gene: ALG8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALG8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG8 were set to Congenital disorder of glycosylation, type Ih, 608104 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ALG6 Zornitza Stark gene: ALG6 was added
gene: ALG6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALG6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG6 were set to Congenital disorder of glycosylation, type Ic, 603147 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ALG3 Zornitza Stark gene: ALG3 was added
gene: ALG3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALG3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG3 were set to Congenital disorder of glycosylation, type Id, 601110 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ALG2 Zornitza Stark gene: ALG2 was added
gene: ALG2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALG2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG2 were set to Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ALG12 Zornitza Stark gene: ALG12 was added
gene: ALG12 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALG12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG12 were set to Congenital disorder of glycosylation, type Ig, 607143 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ALG11 Zornitza Stark gene: ALG11 was added
gene: ALG11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALG11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG11 were set to Congenital disorder of glycosylation, type Ip, 613661 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ALG1 Zornitza Stark gene: ALG1 was added
gene: ALG1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG1 were set to Congenital disorder of glycosylation, type Ik, 608540 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ALDOB Zornitza Stark gene: ALDOB was added
gene: ALDOB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALDOB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDOB were set to Fructose intolerance, 229600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ALDH7A1 Zornitza Stark gene: ALDH7A1 was added
gene: ALDH7A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALDH7A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH7A1 were set to Epilepsy, pyridoxine-dependent, 266100 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ALDH5A1 Zornitza Stark gene: ALDH5A1 was added
gene: ALDH5A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALDH5A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH5A1 were set to Succinic semialdehyde dehydrogenase deficiency, 271980 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ALDH3A2 Zornitza Stark gene: ALDH3A2 was added
gene: ALDH3A2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH3A2 were set to Sjogren-Larsson syndrome, 270200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ALDH1A3 Zornitza Stark gene: ALDH1A3 was added
gene: ALDH1A3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALDH1A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH1A3 were set to Microphthalmia, isolated 8, 615113 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ALDH18A1 Zornitza Stark gene: ALDH18A1 was added
gene: ALDH18A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALDH18A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH18A1 were set to Spastic paraplegia 9B, autosomal recessive, 616586 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ALAD Zornitza Stark gene: ALAD was added
gene: ALAD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALAD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALAD were set to Porphyria, acute hepatic, 612740 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AKR1D1 Zornitza Stark gene: AKR1D1 was added
gene: AKR1D1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AKR1D1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AKR1D1 were set to Bile acid synthesis defect, congenital, 2, 235555 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AK2 Zornitza Stark gene: AK2 was added
gene: AK2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AK2 were set to Reticular dysgenesis, 267500 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AIPL1 Zornitza Stark gene: AIPL1 was added
gene: AIPL1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AIPL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AIPL1 were set to Cone-rod dystrophy, 604393 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AIMP1 Zornitza Stark gene: AIMP1 was added
gene: AIMP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AIMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AIMP1 were set to Leukodystrophy, hypomyelinating, 3, 260600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AIFM1 Zornitza Stark gene: AIFM1 was added
gene: AIFM1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AIFM1 were set to Cowchock syndrome, 310490 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AHI1 Zornitza Stark gene: AHI1 was added
gene: AHI1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AHI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AHI1 were set to Joubert syndrome-3, 608629 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AGXT Zornitza Stark gene: AGXT was added
gene: AGXT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AGXT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGXT were set to Hyperoxaluria, primary, type 1, 259900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AGT Zornitza Stark gene: AGT was added
gene: AGT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AGT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGT were set to Renal tubular dysgenesis, 267430 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AGRN Zornitza Stark gene: AGRN was added
gene: AGRN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AGRN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGRN were set to Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AGPS Zornitza Stark gene: AGPS was added
gene: AGPS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AGPS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGPS were set to Chondrodysplasia punctata, rhizomelic, type 3, 600121 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AGL Zornitza Stark gene: AGL was added
gene: AGL was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AGL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGL were set to Glycogen storage disease IIIa, 232400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AGK Zornitza Stark gene: AGK was added
gene: AGK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AGK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGK were set to Sengers syndrome, 212350 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AGBL5 Zornitza Stark gene: AGBL5 was added
gene: AGBL5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AGBL5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGBL5 were set to Retinitis pigmentosa 75, 617023 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AGA Zornitza Stark gene: AGA was added
gene: AGA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AGA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGA were set to Aspartylglucosaminuria, 208400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ADSL Zornitza Stark gene: ADSL was added
gene: ADSL was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ADSL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADSL were set to Adenylosuccinase deficiency, 103050 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ADGRV1 Zornitza Stark gene: ADGRV1 was added
gene: ADGRV1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ADGRV1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADGRV1 were set to Usher syndrome, type 2C, 605472 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ADGRG1 Zornitza Stark gene: ADGRG1 was added
gene: ADGRG1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ADGRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADGRG1 were set to Polymicrogyria, bilateral frontoparietal, 606854 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ADAT3 Zornitza Stark gene: ADAT3 was added
gene: ADAT3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ADAT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAT3 were set to Mental retardation, autosomal recessive 36, 615286 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ADAR Zornitza Stark gene: ADAR was added
gene: ADAR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ADAR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAR were set to Aicardi-Goutieres syndrome 6, 615010 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ADAMTSL2 Zornitza Stark gene: ADAMTSL2 was added
gene: ADAMTSL2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ADAMTSL2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAMTSL2 were set to Geleophysic dysplasia 1, 231050 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ADAMTS2 Zornitza Stark gene: ADAMTS2 was added
gene: ADAMTS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ADAMTS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAMTS2 were set to Ehlers-Danlos syndrome, type VIIC, 225410 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ADAMTS13 Zornitza Stark gene: ADAMTS13 was added
gene: ADAMTS13 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ADAMTS13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAMTS13 were set to Thrombotic thrombocytopenic purpura, familial, 274150 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ADA2 Zornitza Stark gene: ADA2 was added
gene: ADA2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ADA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADA2 were set to Polyarteritis nodosa, childhood-onset, 615688 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ADA Zornitza Stark gene: ADA was added
gene: ADA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ADA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADA were set to Adenosine deaminase deficiency, partial, 102700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ACTA1 Zornitza Stark gene: ACTA1 was added
gene: ACTA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ACTA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACTA1 were set to Myopathy, congenital, with fiber-type disproportion 1, 255310 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ACSF3 Zornitza Stark gene: ACSF3 was added
gene: ACSF3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ACSF3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACSF3 were set to Combined malonic and methylmalonic aciduria, 614265 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ACOX1 Zornitza Stark gene: ACOX1 was added
gene: ACOX1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ACOX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACOX1 were set to Peroxisomal acyl-CoA oxidase deficiency, 264470 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ACO2 Zornitza Stark gene: ACO2 was added
gene: ACO2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ACO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACO2 were set to Infantile cerebellar-retinal degeneration, 614559 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ACE Zornitza Stark gene: ACE was added
gene: ACE was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ACE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACE were set to Renal tubular dysgenesis, 267430 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ACAT1 Zornitza Stark gene: ACAT1 was added
gene: ACAT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACAT1 were set to Alpha-methylacetoacetic aciduria, 203750 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ACADVL Zornitza Stark gene: ACADVL was added
gene: ACADVL was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACADVL were set to VLCAD deficiency, 201475 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ACAD9 Zornitza Stark gene: ACAD9 was added
gene: ACAD9 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACAD9 were set to Mitochondrial complex I deficiency due to ACAD9 deficiency, 611126 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ABHD5 Zornitza Stark gene: ABHD5 was added
gene: ABHD5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ABHD5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABHD5 were set to Chanarin-Dorfman syndrome, 275630 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ABCD1 Zornitza Stark gene: ABCD1 was added
gene: ABCD1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ABCD1 were set to Adrenoleukodystrophy, 300100 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ABCC8 Zornitza Stark gene: ABCC8 was added
gene: ABCC8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ABCC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCC8 were set to Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ABCC6 Zornitza Stark gene: ABCC6 was added
gene: ABCC6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ABCC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCC6 were set to Arterial calcification, generalized, of infancy, 2, 614473 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ABCB7 Zornitza Stark gene: ABCB7 was added
gene: ABCB7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ABCB7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ABCB7 were set to Anemia, sideroblastic, with ataxia, 301310 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ABCB4 Zornitza Stark gene: ABCB4 was added
gene: ABCB4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ABCB4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCB4 were set to Cholestasis, progressive familial intrahepatic 3, 602347 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ABCB11 Zornitza Stark gene: ABCB11 was added
gene: ABCB11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ABCB11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCB11 were set to Cholestasis, progressive familial intrahepatic 2, 601847 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ABCA4 Zornitza Stark gene: ABCA4 was added
gene: ABCA4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ABCA4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCA4 were set to Cone-rod dystrophy 3, 604116 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ABCA3 Zornitza Stark gene: ABCA3 was added
gene: ABCA3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ABCA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCA3 were set to Surfactant metabolism dysfunction, pulmonary, 3, 610921 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ABCA12 Zornitza Stark gene: ABCA12 was added
gene: ABCA12 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ABCA12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCA12 were set to Ichthyosis, congenital, autosomal recessive 4A, 601277 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ABAT Zornitza Stark gene: ABAT was added
gene: ABAT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ABAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABAT were set to GABA-transaminase deficiency, 613163 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AARS2 Zornitza Stark gene: AARS2 was added
gene: AARS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AARS2 were set to Combined oxidative phosphorylation deficiency 8, 614096 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 AAAS Zornitza Stark gene: AAAS was added
gene: AAAS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AAAS were set to Achalasia-addisonianism-alacrimia syndrome, 231550 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 Zornitza Stark Added panel Mackenzie's Mission_Reproductive Carrier Screening