PanelApp (staging)

Activity

Filter

Cancel
Date Panel Item Activity
328 actions
Mendeliome v1.2239 TCP1 Zornitza Stark Phenotypes for gene: TCP1 were changed from neurodevelopmental disorder MONDO:0700092, TCP1-related to Intellectual developmental disorder with polymicrogyria and seizures, MIM# 621021
Mendeliome v1.2238 TCP1 Zornitza Stark reviewed gene: TCP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder with polymicrogyria and seizures, MIM# 621021; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.2192 TCP1 Ain Roesley Marked gene: TCP1 as ready
Mendeliome v1.2192 TCP1 Ain Roesley Gene: tcp1 has been classified as Green List (High Evidence).
Mendeliome v1.2192 TCP1 Ain Roesley Marked gene: TCP1 as ready
Mendeliome v1.2192 TCP1 Ain Roesley Gene: tcp1 has been classified as Green List (High Evidence).
Mendeliome v1.2192 TCP1 Ain Roesley Classified gene: TCP1 as Green List (high evidence)
Mendeliome v1.2192 TCP1 Ain Roesley Gene: tcp1 has been classified as Green List (High Evidence).
Mendeliome v1.2191 TCP1 Ain Roesley gene: TCP1 was added
gene: TCP1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TCP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TCP1 were set to 39480921
Phenotypes for gene: TCP1 were set to neurodevelopmental disorder MONDO:0700092, TCP1-related
Penetrance for gene: TCP1 were set to Complete
Review for gene: TCP1 was set to GREEN
gene: TCP1 was marked as current diagnostic
Added comment: previously known as CCT1

8x individuals including 5x de novo
6x PTCs + 2x missense

6/8 DD/ID
2/8 visual impairment
6/8 seizures
6/8 polymicrogyria + 1x Ventriculomegaly, white matter hyperintensities
Sources: Literature
Mendeliome v1.1973 REPS2 Mark Cleghorn gene: REPS2 was added
gene: REPS2 was added to Mendeliome. Sources: Other
Mode of inheritance for gene: REPS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: REPS2 were set to complex neurodevelopmental disorder MONDO:0100038; Cerebral palsy HP:0100021
Penetrance for gene: REPS2 were set to unknown
Review for gene: REPS2 was set to AMBER
Added comment: REPS2
Hao Hu, Guangzhou Women and Children’s MC
ESHG talk 1/6/24, unpublished

Proposed X-linked cerebral palsy + NDD gene

4 unrelated males with predicted deleterious hemizygous REPS2 variants, 2 PTC, 2 missense. 2 de novo, 2 maternally inherited
Phenotypes: 2 w CP + moderate ID/ASD, 2 w NDD NOS
Variants described:
c.1050_1052delGAA;p.K351del
c.1040T>C; p.I347T
c.962C>G; p.S321C
c.1736delA; p.N579Tfs*17

In vitro assay of above 4 variants suggest reduced REPS2 protein stability
Zebrafish model: REPS2 expressed in neuronal cells, REPS2 knock down have reduced motor activity and abN neuronal morphology
Mouse model hemizygous w one of above variants (not specified): reduced performance in cognitive tasks, abnormal neuronal migration pattern on post mortem examination
Mechanism may relate to dopamine signalling?
Sources: Other
Mendeliome v1.1917 SYCP2L Zornitza Stark Publications for gene: SYCP2L were set to 32303603
Mendeliome v1.1916 SYCP2L Zornitza Stark Classified gene: SYCP2L as Green List (high evidence)
Mendeliome v1.1916 SYCP2L Zornitza Stark Gene: sycp2l has been classified as Green List (High Evidence).
Mendeliome v1.1915 SYCP2L Zornitza Stark changed review comment from: PMID: 38521400 - A homozygous nonsense variant segregated with POI in a pedigree with two affected sisters (c.1528C>T, p.(Gln510Ter)) PMID: 32303603 - Two unrelated individuals with premature ovarian insufficiency and homozygous variants (c.150_151del (p.Ser52Profs*7), c.999A>G (p.Ile333Met)) in SYCP2L. Concordant mouse model.; to: PMID: 38521400 - A homozygous nonsense variant segregated with POI in a pedigree with two affected sisters c.1528C>T, p.(Gln510Ter)
Mendeliome v1.1915 SYCP2L Zornitza Stark reviewed gene: SYCP2L: Rating: GREEN; Mode of pathogenicity: None; Publications: 38521400; Phenotypes: Premature ovarian failure 24, MIM# 620840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.1801 SYCP2L Zornitza Stark Phenotypes for gene: SYCP2L were changed from Premature ovarian insufficiency to Premature ovarian failure 24, MIM# 620840
Mendeliome v1.1784 LCP1 Zornitza Stark Marked gene: LCP1 as ready
Mendeliome v1.1784 LCP1 Zornitza Stark Gene: lcp1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1784 LCP1 Zornitza Stark Classified gene: LCP1 as Amber List (moderate evidence)
Mendeliome v1.1784 LCP1 Zornitza Stark Gene: lcp1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1783 LCP1 Zornitza Stark gene: LCP1 was added
gene: LCP1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: LCP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LCP1 were set to 38710235
Phenotypes for gene: LCP1 were set to Bone marrow failure syndrome, MONDO:0000159, LCP1-related
Review for gene: LCP1 was set to AMBER
Added comment: 3 individuals from single kindred presenting with fevers, recurrent infections ,lymphopenia, neutropenia and thrombocytopenia. Murine model with similar phenotype. heterozygous LCP1c.740 -1G>A splice site variant hypothesized to cause dominant negative mode of inheritance
Sources: Literature
Mendeliome v1.1551 LCP2 Achchuthan Shanmugasundram reviewed gene: LCP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 37211057; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.1361 TUBGCP2 Zornitza Stark Phenotypes for gene: TUBGCP2 were changed from Lissencephaly; pachygyria; subcortical band heterotopia; microcephaly; intellectual disability to Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM # 618737; Lissencephaly; pachygyria; subcortical band heterotopia; microcephaly; intellectual disability
Mendeliome v1.1360 TUBGCP2 Zornitza Stark edited their review of gene: TUBGCP2: Changed phenotypes: Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM # 618737, Lissencephaly, pachygyria, subcortical band heterotopia, microcephaly, intellectual disability
Mendeliome v1.1224 CPEB1 Zornitza Stark Phenotypes for gene: CPEB1 were changed from Primary ovarian insufficiency to Primary ovarian insufficiency, MONDO:0005387, CPEB1-related
Mendeliome v1.1223 CPA1 Zornitza Stark Phenotypes for gene: CPA1 were changed from Susceptibility to chronic pancreatitis; Hereditary pancreatitis to Hereditary pancreatitis, MONDO:0008185, CPA1-related
Mendeliome v1.1222 CPA1 Zornitza Stark edited their review of gene: CPA1: Changed phenotypes: Hereditary pancreatitis, MONDO:0008185, CPA1-related
Mendeliome v1.1052 TEP1 Zornitza Stark gene: TEP1 was added
gene: TEP1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TEP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TEP1 were set to 34543729
Phenotypes for gene: TEP1 were set to Cerebral palsy, MONDO:0006497, TEP1-related
Review for gene: TEP1 was set to AMBER
Added comment: Wang et al. screened a large cohort of more than 600 CP patients from China and found several variants in TEP1, 11 of which were LoF, while no LoF variant was found in the control cohort. These children all had spastic CP. Among these 11 children, 6 children had birth asphyxia and neonatal encephalopathy. Compared to the total group with birth asphyxia (71/667), 6 patients with TEP1 LOF mutations had a significantly greater risk of birth asphyxia. They confirmed TEP1 as a risk factor for CP by cytological and animal models.

Uncertain if these are risk alleles vs indicative of a monogenic disorder. Note LoF variants in gnomad. As this was a cohort study, inheritance of these variants is unknown.
Sources: Literature
Mendeliome v1.750 LCP2 Zornitza Stark Publications for gene: LCP2 were set to 33231617
Mendeliome v1.749 LCP2 Zornitza Stark Classified gene: LCP2 as Green List (high evidence)
Mendeliome v1.749 LCP2 Zornitza Stark Gene: lcp2 has been classified as Green List (High Evidence).
Mendeliome v1.748 LCP2 Zornitza Stark edited their review of gene: LCP2: Added comment: PMID 36474126: second individual reported. Functional data.; Changed rating: GREEN; Changed publications: 33231617, 36474126
Mendeliome v1.571 BUB1 Zornitza Stark Phenotypes for gene: BUB1 were changed from Neurodevelopmental disorder, BUB1-related MONDO:0700092 to Primary microcephaly-30 (MCPH30), MIM#620183
Mendeliome v1.570 BUB1 Zornitza Stark edited their review of gene: BUB1: Changed phenotypes: primary microcephaly-30 (MCPH30), MIM#620183
Mendeliome v1.396 CPS1 Zornitza Stark Tag treatable tag was added to gene: CPS1.
Mendeliome v1.343 CPT2 Zornitza Stark Tag treatable tag was added to gene: CPT2.
Mendeliome v1.343 CPT1A Zornitza Stark Tag treatable tag was added to gene: CPT1A.
Mendeliome v1.233 CPS1 Zornitza Stark Phenotypes for gene: CPS1 were changed from to Carbamoylphosphate synthetase I deficiency MIM#237300
Mendeliome v1.232 CPS1 Zornitza Stark Mode of inheritance for gene: CPS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.231 CPS1 Zornitza Stark reviewed gene: CPS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Pulmonary hypertension, neonatal, susceptibility to} 615371; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14509 CPSF3 Zornitza Stark Phenotypes for gene: CPSF3 were changed from Neurodevelopmental disorder, CPSF3-related, MONDO:0700092 to Neurodevelopmental disorder with microcephaly, hypotonia, and seizures (NEDMHS), MIM#619876
Mendeliome v0.14508 CPSF3 Zornitza Stark reviewed gene: CPSF3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, hypotonia, and seizures (NEDMHS), MIM#619876; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14459 MECP2 Zornitza Stark Marked gene: MECP2 as ready
Mendeliome v0.14459 MECP2 Zornitza Stark Gene: mecp2 has been classified as Green List (High Evidence).
Mendeliome v0.14459 MECP2 Zornitza Stark Phenotypes for gene: MECP2 were changed from to Rett syndrome, MIM# 312750; Intellectual developmental disorder, X-linked, syndromic 13, MIM# 300055; Encephalopathy, neonatal severe, MIM# 300673
Mendeliome v0.14458 MECP2 Zornitza Stark Publications for gene: MECP2 were set to
Mendeliome v0.14457 MECP2 Zornitza Stark Mode of inheritance for gene: MECP2 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.14456 MECP2 Zornitza Stark reviewed gene: MECP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Rett syndrome, MIM# 312750, Intellectual developmental disorder, X-linked, syndromic 13, MIM# 300055, Encephalopathy, neonatal severe, MIM# 300673; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.13860 KCNJ2 Ain Roesley changed review comment from: well-established association, including short QT, long QT, clefting disorders, myopathy adult onset, channelopathies. tenuous association for CPVT

Dominant-negative is the disease mechanism; to: well-established association, including short QT, long QT, clefting disorders, myopathy adult onset, channelopathies. tenuous association for CPVT

Dominant-negative and LoF is the disease mechanism for ATS and CPVT while GoF is the mechanism for short QT
Mendeliome v0.13725 CPT1A Ain Roesley Marked gene: CPT1A as ready
Mendeliome v0.13725 CPT1A Ain Roesley Gene: cpt1a has been classified as Green List (High Evidence).
Mendeliome v0.13725 CPT1A Ain Roesley Phenotypes for gene: CPT1A were changed from to CPT deficiency, hepatic, type IA, MIM# 255120
Mendeliome v0.13724 CPT1A Ain Roesley Publications for gene: CPT1A were set to
Mendeliome v0.13724 CPT1A Ain Roesley Mode of inheritance for gene: CPT1A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13723 CPT1A Ain Roesley reviewed gene: CPT1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 12189492, 25778941, 23430932; Phenotypes: CPT deficiency, hepatic, type IA, MIM# 255120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13723 CPS1 Ain Roesley Marked gene: CPS1 as ready
Mendeliome v0.13723 CPS1 Ain Roesley Gene: cps1 has been classified as Green List (High Evidence).
Mendeliome v0.13723 CPS1 Ain Roesley Publications for gene: CPS1 were set to
Mendeliome v0.13722 CPS1 Ain Roesley reviewed gene: CPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8486760, 17310273, 21120950, 31268178; Phenotypes: Carbamoylphosphate synthetase I deficiency MIM#237300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13722 CPOX Ain Roesley Marked gene: CPOX as ready
Mendeliome v0.13722 CPOX Ain Roesley Gene: cpox has been classified as Green List (High Evidence).
Mendeliome v0.13722 CPOX Ain Roesley Phenotypes for gene: CPOX were changed from to Coproporphyria, MIM#121300; Harderoporphyria, MIM#121300
Mendeliome v0.13722 CPOX Ain Roesley Publications for gene: CPOX were set to
Mendeliome v0.13721 CPOX Ain Roesley Mode of inheritance for gene: CPOX was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13720 CPOX Ain Roesley reviewed gene: CPOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 30828546, 28349448, 23582006, 24156084; Phenotypes: Coproporphyria, MIM#121300, Harderoporphyria, MIM#121300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13720 CPN1 Ain Roesley Marked gene: CPN1 as ready
Mendeliome v0.13720 CPN1 Ain Roesley Gene: cpn1 has been classified as Red List (Low Evidence).
Mendeliome v0.13720 CPN1 Ain Roesley Phenotypes for gene: CPN1 were changed from to Carboxypeptidase N deficiency MIM#212070
Mendeliome v0.13719 CPN1 Ain Roesley Publications for gene: CPN1 were set to
Mendeliome v0.13718 CPN1 Ain Roesley Mode of inheritance for gene: CPN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13718 CPN1 Ain Roesley Classified gene: CPN1 as Red List (low evidence)
Mendeliome v0.13718 CPN1 Ain Roesley Gene: cpn1 has been classified as Red List (Low Evidence).
Mendeliome v0.13717 CPN1 Ain Roesley reviewed gene: CPN1: Rating: RED; Mode of pathogenicity: None; Publications: 12560874, 7437116; Phenotypes: Carboxypeptidase N deficiency MIM#212070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.12127 CALM3 Ain Roesley Phenotypes for gene: CALM3 were changed from to Long QT syndrome 16 MIM#618782; CPVT
Mendeliome v0.12126 CALM3 Ain Roesley reviewed gene: CALM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31983240; Phenotypes: Long QT syndrome 16 MIM#618782, CPVT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.12126 CALM2 Ain Roesley Phenotypes for gene: CALM2 were changed from to Long QT syndrome 15 MIM#616249; CPVT
Mendeliome v0.12124 CALM2 Ain Roesley reviewed gene: CALM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31983240; Phenotypes: Long QT syndrome 15 MIM#616249, CPVT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.12109 SCP2 Zornitza Stark Marked gene: SCP2 as ready
Mendeliome v0.12109 SCP2 Zornitza Stark Gene: scp2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12109 SCP2 Zornitza Stark Publications for gene: SCP2 were set to 16685654
Mendeliome v0.12108 SCP2 Zornitza Stark Classified gene: SCP2 as Amber List (moderate evidence)
Mendeliome v0.12108 SCP2 Zornitza Stark Gene: scp2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12107 SCP2 Zornitza Stark reviewed gene: SCP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 26497993; Phenotypes: Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12106 SCP2 Zornitza Stark Phenotypes for gene: SCP2 were changed from to Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724
Mendeliome v0.12104 SCP2 Zornitza Stark Publications for gene: SCP2 were set to
Mendeliome v0.12103 SCP2 Zornitza Stark Mode of inheritance for gene: SCP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12102 SCP2 Zornitza Stark Classified gene: SCP2 as Red List (low evidence)
Mendeliome v0.12102 SCP2 Zornitza Stark Gene: scp2 has been classified as Red List (Low Evidence).
Mendeliome v0.12062 SCP2 Samantha Ayres reviewed gene: SCP2: Rating: RED; Mode of pathogenicity: None; Publications: 16685654; Phenotypes: ?Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724; Mode of inheritance: Unknown
Mendeliome v0.11788 SYCP3 Zornitza Stark Marked gene: SYCP3 as ready
Mendeliome v0.11788 SYCP3 Zornitza Stark Gene: sycp3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11788 SYCP3 Zornitza Stark Phenotypes for gene: SYCP3 were changed from to Spermatogenic failure 4, MIM# 270960; Pregnancy loss, recurrent, 4, MIM# 270960
Mendeliome v0.11787 SYCP3 Zornitza Stark Publications for gene: SYCP3 were set to
Mendeliome v0.11786 SYCP3 Zornitza Stark Mode of inheritance for gene: SYCP3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11785 SYCP3 Zornitza Stark Classified gene: SYCP3 as Amber List (moderate evidence)
Mendeliome v0.11785 SYCP3 Zornitza Stark Gene: sycp3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11784 SYCP3 Zornitza Stark reviewed gene: SYCP3: Rating: AMBER; Mode of pathogenicity: None; Publications: 14643120, 19110213, 33170803; Phenotypes: Spermatogenic failure 4, MIM# 270960, Pregnancy loss, recurrent, 4, MIM# 270960; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11716 ACP4 Elena Savva Phenotypes for gene: ACP4 were changed from Amelogenesis imperfecta, type IJ MIM#617297 to Amelogenesis imperfecta, type IJ MIM#617297
Mendeliome v0.11716 ACP4 Elena Savva Phenotypes for gene: ACP4 were changed from Amelogenesis imperfecta, type IJ MIM#617297 to Amelogenesis imperfecta, type IJ MIM#617297
Mendeliome v0.11716 ACP4 Elena Savva Publications for gene: ACP4 were set to 28513613; 27843125; 33552707
Mendeliome v0.11715 ACP4 Elena Savva Phenotypes for gene: ACP4 were changed from to Amelogenesis imperfecta, type IJ MIM#617297
Mendeliome v0.11715 ACP4 Elena Savva Publications for gene: ACP4 were set to
Mendeliome v0.11714 ACP4 Elena Savva Marked gene: ACP4 as ready
Mendeliome v0.11714 ACP4 Elena Savva Gene: acp4 has been classified as Green List (High Evidence).
Mendeliome v0.11714 ACP4 Elena Savva Mode of inheritance for gene: ACP4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11687 UCP3 Zornitza Stark Marked gene: UCP3 as ready
Mendeliome v0.11687 UCP3 Zornitza Stark Gene: ucp3 has been classified as Red List (Low Evidence).
Mendeliome v0.11687 UCP3 Zornitza Stark Publications for gene: UCP3 were set to
Mendeliome v0.11686 UCP3 Zornitza Stark Phenotypes for gene: UCP3 were changed from to {Obesity, severe, and type II diabetes}, MIM#601665
Mendeliome v0.11685 UCP3 Zornitza Stark Mode of inheritance for gene: UCP3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11684 UCP3 Zornitza Stark Classified gene: UCP3 as Red List (low evidence)
Mendeliome v0.11684 UCP3 Zornitza Stark Gene: ucp3 has been classified as Red List (Low Evidence).
Mendeliome v0.11665 UCP3 Belinda Chong edited their review of gene: UCP3: Changed rating: RED
Mendeliome v0.11665 UCP3 Belinda Chong changed review comment from: Inheritance: Autosomal dominant, autosomal recessive and multifactorial

PMID: 21544083
Identified four novel mutations in the UCP3 gene (V56M, A111V, V192I and Q252X) in 200 children with severe, early-onset obesity (body mass index-standard deviation score >2.5; onset: <4 years) living in Southern Italy. Indicated that protein UCP3 affects long-chain fatty acid metabolism and can prevent cytosolic triglyceride storage. Also suggested that telmisartan, which increases fatty acid oxidation in rat skeletal muscle, also improves UCP3 wt and mutant protein activity, including the dominant-negative UCP3 mutants (V56M & Q252X).

All variants are present in GnomAD there are 56 - V56M, 325 - A111V, 9 - V192I and 2 - A252X; to: Inheritance: Autosomal dominant, autosomal recessive and multifactorial

PMID: 21544083
Identified four novel mutations in the UCP3 gene (V56M, A111V, V192I and Q252X) in 200 children with severe, early-onset obesity (body mass index-standard deviation score >2.5; onset: <4 years) living in Southern Italy. Indicated that protein UCP3 affects long-chain fatty acid metabolism and can prevent cytosolic triglyceride storage. Also suggested that telmisartan, which increases fatty acid oxidation in rat skeletal muscle, also improves UCP3 wt and mutant protein activity, including the dominant-negative UCP3 mutants (V56M & Q252X). Single pathogenic variant in ClinVar

All variants are present in GnomAD there are 56 - V56M, 325 - A111V, 9 - V192I and 2 - A252X
Mendeliome v0.11659 UCP3 Belinda Chong reviewed gene: UCP3: Rating: AMBER; Mode of pathogenicity: None; Publications: 10618503, 11238538, 21544083; Phenotypes: {Obesity, severe, and type II diabetes}; Mode of inheritance: Other
Mendeliome v0.11107 CPSF3 Alison Yeung Marked gene: CPSF3 as ready
Mendeliome v0.11107 CPSF3 Alison Yeung Gene: cpsf3 has been classified as Green List (High Evidence).
Mendeliome v0.11106 CPSF3 Alison Yeung Phenotypes for gene: CPSF3 were changed from Intellectual disability syndrome to Neurodevelopmental disorder, CPSF3-related, MONDO:0700092
Mendeliome v0.11105 CPSF3 Alison Yeung Classified gene: CPSF3 as Green List (high evidence)
Mendeliome v0.11105 CPSF3 Alison Yeung Gene: cpsf3 has been classified as Green List (High Evidence).
Mendeliome v0.11099 CPSF3 Belinda Chong gene: CPSF3 was added
gene: CPSF3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CPSF3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPSF3 were set to 35121750
Phenotypes for gene: CPSF3 were set to Intellectual disability syndrome
Review for gene: CPSF3 was set to GREEN
Added comment: study of a deficit of observed homozygous carriers of missense variants, versus an expected number in a set of 153,054 chip-genotyped Icelanders, to identify potentially pathogenic genotypes

Six homozygous carriers of missense variants in CPSF3 show severe intellectual disability, seizures, microcephaly, and abnormal muscle tone.

- Four identified through Icelandic geneology (p.Gly468Glu), three carrier couples total of four children who had died prematurely. Tested archival samples for two of these children, and confirm a homozygous genotype.
- Two of Mexican descent (p.Ile354Thr), first-degree cousins
Sources: Literature
Mendeliome v0.10940 CPS1 Belinda Chong reviewed gene: CPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8486760, 17310273, 21120950; Phenotypes: Carbamoylphosphate synthetase I deficiency MIM#237300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10806 ACP5 Zornitza Stark Phenotypes for gene: ACP5 were changed from to Spondyloenchondrodysplasia with immune dysregulation, OMIM# 607944
Mendeliome v0.10805 ACP5 Zornitza Stark Publications for gene: ACP5 were set to
Mendeliome v0.10804 ACP5 Zornitza Stark Mode of inheritance for gene: ACP5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10803 ACP2 Zornitza Stark Phenotypes for gene: ACP2 were changed from to Lysosomal acid phosphatase deficiency, MIM# 200950
Mendeliome v0.10802 ACP2 Zornitza Stark Publications for gene: ACP2 were set to
Mendeliome v0.10801 ACP2 Zornitza Stark Mode of inheritance for gene: ACP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10795 ACP5 Alison Yeung Marked gene: ACP5 as ready
Mendeliome v0.10795 ACP5 Alison Yeung Gene: acp5 has been classified as Green List (High Evidence).
Mendeliome v0.10795 ACP5 Alison Yeung reviewed gene: ACP5: Rating: GREEN; Mode of pathogenicity: None; Publications: 26854080, 26951490, 21217755, 26789720, 2363422, 21217752; Phenotypes: spondyloenchondrodysplasia with immune dysregulation, OMIM# 607944; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10795 ACP2 Alison Yeung Marked gene: ACP2 as ready
Mendeliome v0.10795 ACP2 Alison Yeung Gene: acp2 has been classified as Red List (Low Evidence).
Mendeliome v0.10795 ACP2 Alison Yeung Classified gene: ACP2 as Red List (low evidence)
Mendeliome v0.10795 ACP2 Alison Yeung Gene: acp2 has been classified as Red List (Low Evidence).
Mendeliome v0.10794 ACP2 Alison Yeung reviewed gene: ACP2: Rating: RED; Mode of pathogenicity: None; Publications: 5410815; Phenotypes: Lysosomal acid phosphatase deficiency, OMIM# 200950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10427 TECRL Zornitza Stark gene: TECRL was added
gene: TECRL was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: TECRL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TECRL were set to 17666061; 27861123; 30790670; 33367594
Phenotypes for gene: TECRL were set to Ventricular tachycardia, catecholaminergic polymorphic, 3, MIM# 614021
Review for gene: TECRL was set to GREEN
Added comment: DEFINITIVE by ClinGen
Homozygous or cpd heterozygous pathogenic variants in TECRL have been identified in patients with CPVT in at least 3 families in the literature with functional evidence.
- 17666061 one consanguineous family with 4 affected relatives (siblings or 1stcousins)
- 27861123 consanguineous family with 8 affected relatives (siblings or 1stcousins)
- 30790670 reported in a single family with one child with features of CPVT
-A multi-centre review published in 2020 provided an update on these cases and described two additional CPVT cases (homozygous p.Tyr197Ter nonsense variant and homozygous exon 2 deletion) and a family with three children with sudden cardiac death, where one was homozygous for the c.331+1G>A splice donor variant, PMID 33367594
Sources: Expert Review
Mendeliome v0.10276 CPAMD8 Zornitza Stark Marked gene: CPAMD8 as ready
Mendeliome v0.10276 CPAMD8 Zornitza Stark Gene: cpamd8 has been classified as Green List (High Evidence).
Mendeliome v0.10276 CPAMD8 Zornitza Stark Phenotypes for gene: CPAMD8 were changed from to Anterior segment dysgenesis 8, MIM# 617319
Mendeliome v0.10275 CPAMD8 Zornitza Stark Publications for gene: CPAMD8 were set to
Mendeliome v0.10274 CPAMD8 Zornitza Stark Mode of inheritance for gene: CPAMD8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10273 CPAMD8 Zornitza Stark reviewed gene: CPAMD8: Rating: GREEN; Mode of pathogenicity: None; Publications: 32274568; Phenotypes: Anterior segment dysgenesis 8, MIM# 617319; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9949 CPEB1 Bryony Thompson Marked gene: CPEB1 as ready
Mendeliome v0.9949 CPEB1 Bryony Thompson Gene: cpeb1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9949 CPEB1 Bryony Thompson Classified gene: CPEB1 as Amber List (moderate evidence)
Mendeliome v0.9949 CPEB1 Bryony Thompson Gene: cpeb1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9948 CPEB1 Bryony Thompson gene: CPEB1 was added
gene: CPEB1 was added to Mendeliome. Sources: Literature
SV/CNV tags were added to gene: CPEB1.
Mode of inheritance for gene: CPEB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CPEB1 were set to 34794894; 33095795; 32354341; 30689869; 11702780
Phenotypes for gene: CPEB1 were set to Primary ovarian insufficiency
Review for gene: CPEB1 was set to AMBER
Added comment: Large CNVs including CPEB1 mainly reported, but also include BNC1.
PMID: 33095795 - 1 POI case with missense variant p.R87C, which has 101 hets in gnomAD v2.1 (too common for a Mendelian dominantly inherited disease). Also another POI case with an 83.8Kb deletion including CPEB1.
PMID: 32354341 - 1 primary amenorrhea case heterozygous deletion of exons 8-12 of CPEB1
PMID: 30689869 - 6 POI cases (including previously reported) with a 15q25.2 deletion including CPEB1, but also including POI gene BNC1. Also, a homozygous microdeletion involving CPEB1 intron 1 in one case.
PMID: 11702780 - knockout mouse model had vestigial ovaries devoid of oocytes
Sources: Literature
Mendeliome v0.9860 UCP2 Zornitza Stark Marked gene: UCP2 as ready
Mendeliome v0.9860 UCP2 Zornitza Stark Gene: ucp2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9860 UCP2 Zornitza Stark Phenotypes for gene: UCP2 were changed from to {Obesity, susceptibility to, BMIQ4} 607447; Hyperinsulinism
Mendeliome v0.9859 UCP2 Zornitza Stark Publications for gene: UCP2 were set to
Mendeliome v0.9858 UCP2 Zornitza Stark Mode of inheritance for gene: UCP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9857 UCP2 Zornitza Stark Classified gene: UCP2 as Amber List (moderate evidence)
Mendeliome v0.9857 UCP2 Zornitza Stark Gene: ucp2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9856 UCP2 Zornitza Stark reviewed gene: UCP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 19065272, 11381268; Phenotypes: {Obesity, susceptibility to, BMIQ4} 607447, Hyperinsulinism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9791 CPT2 Zornitza Stark Marked gene: CPT2 as ready
Mendeliome v0.9791 CPT2 Zornitza Stark Gene: cpt2 has been classified as Green List (High Evidence).
Mendeliome v0.9791 CPT2 Zornitza Stark Phenotypes for gene: CPT2 were changed from to CPT II deficiency, infantile 600649; CPT II deficiency, lethal neonatal 608836; CPT II deficiency, myopathic, stress-induced 255110
Mendeliome v0.9790 CPT2 Zornitza Stark Publications for gene: CPT2 were set to
Mendeliome v0.9789 CPT2 Zornitza Stark Mode of inheritance for gene: CPT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9788 CPT2 Zornitza Stark reviewed gene: CPT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11477613, 12410208, 8651281, 12410208, 8358442; Phenotypes: CPT II deficiency, infantile 600649, CPT II deficiency, lethal neonatal 608836, CPT II deficiency, myopathic, stress-induced 255110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9779 KCNJ2 Ain Roesley commented on gene: KCNJ2: well-established association, including short QT, long QT, clefting disorders, myopathy adult onset, channelopathies. tenuous association for CPVT

Dominant-negative is the disease mechanism
Mendeliome v0.9704 CPA6 Zornitza Stark Tag refuted tag was added to gene: CPA6.
Tag disputed tag was added to gene: CPA6.
Mendeliome v0.9701 CPA6 Bryony Thompson Classified gene: CPA6 as Red List (low evidence)
Mendeliome v0.9701 CPA6 Bryony Thompson Added comment: Comment on list classification: ClinGen Epilepsy GCEP has reviewed both inheritances for gene-disease associations with epilepsy: AR disease is Disputed - There is contradictory case level and experimental data regarding any association between CPA6 and autosomal recessive epilepsy. Classification - 07/29/2021 AD disease is Refuted- There is very limited evidence supporting a gene-disease association. Many of the reported pathogenic variants have been subsequently identified as having a high minor allele frequency in population databases. Classification - 07/29/2021
Mendeliome v0.9701 CPA6 Bryony Thompson Gene: cpa6 has been classified as Red List (Low Evidence).
Mendeliome v0.9590 NUP85 Eleanor Williams reviewed gene: NUP85: Rating: ; Mode of pathogenicity: None; Publications: 34170319; Phenotypes: intellectual disability, Primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders (MCPH–SCKS); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9272 CPE Zornitza Stark Publications for gene: CPE were set to 26120850; 32936766
Mendeliome v0.9271 CPE Zornitza Stark Classified gene: CPE as Green List (high evidence)
Mendeliome v0.9271 CPE Zornitza Stark Gene: cpe has been classified as Green List (High Evidence).
Mendeliome v0.9270 CPE Arina Puzriakova reviewed gene: CPE: Rating: GREEN; Mode of pathogenicity: None; Publications: 34383079; Phenotypes: Intellectual developmental disorder and hypogonadotropic hypogonadism, OMIM:619326; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9252 MAOB Zornitza Stark gene: MAOB was added
gene: MAOB was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: MAOB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAOB were set to 31700678
Phenotypes for gene: MAOB were set to Cerebral palsy
Review for gene: MAOB was set to RED
Added comment: Variants identified in 2 unrelated individuals with CP (with same variant also identified in unaffected monozygotic twin).
Sources: Expert Review
Mendeliome v0.9249 KDM7A Zornitza Stark gene: KDM7A was added
gene: KDM7A was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KDM7A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KDM7A were set to 25666757
Phenotypes for gene: KDM7A were set to Cerebral palsy
Review for gene: KDM7A was set to RED
Added comment: Synonyms: JHDMID, KDM7, KIAA1718

De novo missense VUS identified in a WES CP cohort study, no other reports.
Sources: Literature
Mendeliome v0.8746 ACP4 Zornitza Stark reviewed gene: ACP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 28513613, 27843125, 33552707; Phenotypes: Amelogenesis imperfecta, type IJ MIM#617297; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8130 C5orf42 Zornitza Stark changed review comment from: Well established gene-disease association.

New gene name is CPLANE1.; to: Well established gene-disease associations. More than 10 families reported with each association.

New gene name is CPLANE1.
Mendeliome v0.8130 C5orf42 Zornitza Stark edited their review of gene: C5orf42: Added comment: Well established gene-disease association.

New gene name is CPLANE1.; Changed publications: 22425360
Mendeliome v0.8084 LCP2 Zornitza Stark Phenotypes for gene: LCP2 were changed from Severe combined immunodeficiency to Immunodeficiency 81, MIM# 619374; Severe combined immunodeficiency
Mendeliome v0.8083 LCP2 Zornitza Stark edited their review of gene: LCP2: Changed phenotypes: Immunodeficiency 81, MIM# 619374, Severe combined immunodeficiency
Mendeliome v0.7631 CPE Zornitza Stark Marked gene: CPE as ready
Mendeliome v0.7631 CPE Zornitza Stark Gene: cpe has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7631 CPE Zornitza Stark Classified gene: CPE as Amber List (moderate evidence)
Mendeliome v0.7631 CPE Zornitza Stark Gene: cpe has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7630 CPE Zornitza Stark gene: CPE was added
gene: CPE was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: CPE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPE were set to 26120850; 32936766
Phenotypes for gene: CPE were set to Intellectual developmental disorder and hypogonadotropic hypogonadism, MIM# 619326
Review for gene: CPE was set to AMBER
Added comment: Four affected individuals from two unrelated families reported, bi-allelic LoF variants.
Sources: Expert Review
Mendeliome v0.7541 FBXO31 Zornitza Stark edited their review of gene: FBXO31: Added comment: PMIDs 33675180; 32989326: three unrelated individuals with de novo missense variant, (p.Asp334Asn) and spastic-dystonic CP.; Changed rating: GREEN; Changed publications: 24623383, 33675180, 32989326; Changed phenotypes: Mental retardation, autosomal recessive 45, MIM#615979, Spastic-dystonic cerebral palsy, de novo dominant; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7358 JMJD1C Zornitza Stark gene: JMJD1C was added
gene: JMJD1C was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: JMJD1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: JMJD1C were set to 26181491; 32996679
Phenotypes for gene: JMJD1C were set to Intellectual disability
Review for gene: JMJD1C was set to GREEN
Added comment: Reported in ID cohort (with Rett-like phenotypic overlap) with supporting functional studies (PMID: 26181491). 7 individuals with rare variants identified, and variants demonstrated to be de novo in 2, one with a Rett-like phenotype and the other with ID. Functional study of the JMJD1C mutant Rett syndrome patient demonstrated that the altered protein had abnormal subcellular localization, diminished activity to demethylate the DNA damage-response protein MDC1, and reduced binding to MECP2. JMJD1C protein shown to be widely expressed in brain regions and that its depletion compromised dendritic activity.

Splice-disrupting JMJD1C variant reported in association with learning disability and myoclonic epilepsy (PMID 32996679).

Disruption of gene due to balanced translocation (PMID 33591602) implicated in autism spectrum disease phenotype.
Sources: Expert Review
Mendeliome v0.6960 MCPH1 Zornitza Stark Marked gene: MCPH1 as ready
Mendeliome v0.6960 MCPH1 Zornitza Stark Gene: mcph1 has been classified as Green List (High Evidence).
Mendeliome v0.6960 MCPH1 Zornitza Stark Phenotypes for gene: MCPH1 were changed from to Microcephaly 1, primary, autosomal recessive, MIM# 251200; MONDO:0009617
Mendeliome v0.6959 MCPH1 Zornitza Stark Publications for gene: MCPH1 were set to
Mendeliome v0.6958 MCPH1 Zornitza Stark Mode of inheritance for gene: MCPH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6957 MCPH1 Zornitza Stark reviewed gene: MCPH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12046007, 15199523, 16311745, 20978018, 32294449, 30351297, 29026105; Phenotypes: Microcephaly 1, primary, autosomal recessive, MIM# 251200, MONDO:0009617; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6733 CPT1C Zornitza Stark Publications for gene: CPT1C were set to 25751282; 23973755
Mendeliome v0.6732 CPT1C Zornitza Stark reviewed gene: CPT1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 30564185; Phenotypes: Spastic paraplegia 73, autosomal dominant MIM#616282; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6732 CPT1C Zornitza Stark Phenotypes for gene: CPT1C were changed from Spastic paraplegia 73, autosomal dominant MIM#616282 to Spastic paraplegia 73, autosomal dominant MIM#616282; MONDO:0014568
Mendeliome v0.6589 SYCP2L Zornitza Stark Marked gene: SYCP2L as ready
Mendeliome v0.6589 SYCP2L Zornitza Stark Gene: sycp2l has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6589 SYCP2L Zornitza Stark Classified gene: SYCP2L as Amber List (moderate evidence)
Mendeliome v0.6589 SYCP2L Zornitza Stark Gene: sycp2l has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6582 SYCP2L Arina Puzriakova gene: SYCP2L was added
gene: SYCP2L was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SYCP2L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SYCP2L were set to 32303603
Phenotypes for gene: SYCP2L were set to Premature ovarian insufficiency
Review for gene: SYCP2L was set to AMBER
Added comment: - PMID: 32303603 (2021) - Two unrelated individuals with premature ovarian insufficiency and homozygous variants (c.150_151del (p.Ser52Profs*7), c.999A>G (p.Ile333Met)) in SYCP2L.
In vitro assays revealed that mutant SYCP2L proteins induced mislocalisation and reduced expression. Sycp2l knockout mice exhibit accelerated reproductive ageing.
Sources: Literature
Mendeliome v0.6540 DLK1 Zornitza Stark gene: DLK1 was added
gene: DLK1 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: DLK1 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: DLK1 were set to 28324015; 30462238
Phenotypes for gene: DLK1 were set to central precocious puberty
Review for gene: DLK1 was set to GREEN
Added comment: PMID: 30462238 "three frameshift mutations of DLK1 (p.Gly199Alafs*11, p.Val271Cysfs*14, and p.Pro160Leufs*50) in five women from three families with CPP. Segregation analysis was consistent with the maternal imprinting of DLK1". PMID: 28324015 single large family, only affected females, central precocious puberty all carrying paternally inherited LOF variant (del/dup of 5'UTR and exon 1) absent DLK1 expression in all affected. Unclear if males affected as none reported to date.
Sources: Expert Review
Mendeliome v0.5908 CPA6 Zornitza Stark Marked gene: CPA6 as ready
Mendeliome v0.5908 CPA6 Zornitza Stark Gene: cpa6 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5908 CPA6 Zornitza Stark Phenotypes for gene: CPA6 were changed from to Epilepsy, familial temporal lobe, 5, MIM#614417; Febrile seizures, familial, 11, MIM#614418
Mendeliome v0.5907 CPA6 Zornitza Stark Publications for gene: CPA6 were set to
Mendeliome v0.5906 CPA6 Zornitza Stark Mode of inheritance for gene: CPA6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5905 CPA6 Zornitza Stark Classified gene: CPA6 as Amber List (moderate evidence)
Mendeliome v0.5905 CPA6 Zornitza Stark Gene: cpa6 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5904 CPA6 Zornitza Stark edited their review of gene: CPA6: Added comment: Homozygous p.A270V variant reported in four siblings with Febrile seizures, familial, 11 (MIM 614418)(PMID:21922598), some functional data. Present in gnomad as hets but no homs. Also note one of the heterozygous individuals initially reported was subsequently found to have a second missense variant, PMID 23105115.

Disputed association between mono allelic variants and disease: variants reported have high frequency in gnomad, not in keeping with Mendelian disorder.; Changed rating: AMBER; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5461 LCP2 Zornitza Stark Marked gene: LCP2 as ready
Mendeliome v0.5461 LCP2 Zornitza Stark Gene: lcp2 has been classified as Red List (Low Evidence).
Mendeliome v0.5461 LCP2 Zornitza Stark gene: LCP2 was added
gene: LCP2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: LCP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LCP2 were set to 33231617
Phenotypes for gene: LCP2 were set to Severe combined immunodeficiency
Review for gene: LCP2 was set to RED
Added comment: Infant with bi-allelic variants in this gene and early-onset life-threatening infections, combined T and B cell immunodeficiency, severe neutrophil defects, and impaired platelet aggregation.
Sources: Literature
Mendeliome v0.5254 FBXO31 Kristin Rigbye changed review comment from: 2 unrelated probands with CP harbouring the same de novo missense variant (p.Asp334Asn). The variant affects the cyclin D interaction site, leading to an apparent gain of function of cyclin D degradation, supported by Western blots from patient fibroblasts which showed decreased cyclin D expression.; to: 2 unrelated probands with CP harbouring the same de novo missense variant (p.Asp334Asn). The variant affects the cyclin D interaction site, leading to an apparent gain of function of cyclin D degradation, supported by Western blots from patient fibroblasts which showed decreased cyclin D expression.

Extended patient phenotypes: Spastic diplegia, with esotropia, ID, dysarthria, mixed receptive/expressive language disorder, ADHD, cleft palate, intestinal malrotation and midgut volvulus (patient 1); Spastic paraplegia with ventricular dilation and thin corpus callosum, ID, attention deficit, anxiety, language impairments, strabismus, severe constipation (patient 2).
Mendeliome v0.5251 RHOB Crystle Lee gene: RHOB was added
gene: RHOB was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: RHOB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RHOB were set to 32989326
Phenotypes for gene: RHOB were set to Cerebral Palsy (PMID:32989326)
Mode of pathogenicity for gene: RHOB was set to Other
Review for gene: RHOB was set to AMBER
Added comment: Candidate disease-causing gene for CP. Recurrent de novo missense variant reported in 2 unrelated families with supporting functional studies.
Sources: Expert list
Mendeliome v0.5192 LRRC32 Zornitza Stark Phenotypes for gene: LRRC32 were changed from Intellectual disability; cleft palate; proliferative retinopathy to Cleft palate, proliferative retinopathy, and developmental delay (CPPRDD) syndrome, MIM# 619074
Mendeliome v0.5191 LRRC32 Zornitza Stark edited their review of gene: LRRC32: Changed phenotypes: Cleft palate, proliferative retinopathy, and developmental delay (CPPRDD) syndrome, MIM# 619074
Mendeliome v0.4932 WDPCP Zornitza Stark Publications for gene: WDPCP were set to 20671153; 25427950
Mendeliome v0.4931 WDPCP Zornitza Stark Classified gene: WDPCP as Green List (high evidence)
Mendeliome v0.4931 WDPCP Zornitza Stark Gene: wdpcp has been classified as Green List (High Evidence).
Mendeliome v0.4930 WDPCP Zornitza Stark commented on gene: WDPCP: Four families reported with ciliopathy phenotypes, including BBS, OFD, syndromic retinopathy.
Mendeliome v0.4930 WDPCP Zornitza Stark edited their review of gene: WDPCP: Changed rating: GREEN; Changed publications: 20671153, 25427950, 32055034, 29588463, 28289185; Changed phenotypes: Bardet-Biedl syndrome 15, MIM# 615992, OFD, Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085
Mendeliome v0.4930 WDPCP Zornitza Stark Marked gene: WDPCP as ready
Mendeliome v0.4930 WDPCP Zornitza Stark Gene: wdpcp has been classified as Amber List (Moderate Evidence).
Mendeliome v0.4930 WDPCP Zornitza Stark Phenotypes for gene: WDPCP were changed from Bardet-Biedl syndrome 15, MIM# 615992; OFD; Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085 to Bardet-Biedl syndrome 15, MIM# 615992; OFD; Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085
Mendeliome v0.4930 WDPCP Zornitza Stark Phenotypes for gene: WDPCP were changed from to Bardet-Biedl syndrome 15, MIM# 615992; OFD; Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085
Mendeliome v0.4929 WDPCP Zornitza Stark Publications for gene: WDPCP were set to
Mendeliome v0.4928 WDPCP Zornitza Stark Mode of inheritance for gene: WDPCP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4927 WDPCP Zornitza Stark Classified gene: WDPCP as Amber List (moderate evidence)
Mendeliome v0.4927 WDPCP Zornitza Stark Gene: wdpcp has been classified as Amber List (Moderate Evidence).
Mendeliome v0.4926 WDPCP Zornitza Stark reviewed gene: WDPCP: Rating: AMBER; Mode of pathogenicity: None; Publications: 20671153, 25427950; Phenotypes: Bardet-Biedl syndrome 15, MIM# 615992, OFD; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4926 TUBGCP4 Zornitza Stark Marked gene: TUBGCP4 as ready
Mendeliome v0.4926 TUBGCP4 Zornitza Stark Gene: tubgcp4 has been classified as Green List (High Evidence).
Mendeliome v0.4926 TUBGCP4 Zornitza Stark Phenotypes for gene: TUBGCP4 were changed from to Microcephaly and chorioretinopathy, autosomal recessive, 3, MIM# 616335
Mendeliome v0.4925 TUBGCP4 Zornitza Stark Publications for gene: TUBGCP4 were set to
Mendeliome v0.4924 TUBGCP4 Zornitza Stark Mode of inheritance for gene: TUBGCP4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4923 TUBGCP4 Zornitza Stark reviewed gene: TUBGCP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25817018, 32270730; Phenotypes: Microcephaly and chorioretinopathy, autosomal recessive, 3, MIM# 616335; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4821 AGAP1 Zornitza Stark gene: AGAP1 was added
gene: AGAP1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: AGAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AGAP1 were set to 31700678; 25666757; 30472483
Phenotypes for gene: AGAP1 were set to Cerebral palsy
Review for gene: AGAP1 was set to AMBER
Added comment: Two individuals reported with de novo variants in this gene and a CP phenotype. Rare variants over-represented in a case-control study. Supportive zebrafish model. Another individual with a deletion (+1 other gene) reported with ID and autism.
Sources: Literature
Mendeliome v0.4557 MECP2 Arina Puzriakova reviewed gene: MECP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32469049; Phenotypes: Rett syndrome, 312750; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.4516 TECPR2 Zornitza Stark Marked gene: TECPR2 as ready
Mendeliome v0.4516 TECPR2 Zornitza Stark Gene: tecpr2 has been classified as Green List (High Evidence).
Mendeliome v0.4516 TECPR2 Zornitza Stark Phenotypes for gene: TECPR2 were changed from to Spastic paraplegia 49, autosomal recessive, MIM# 615031; Autonomic-sensory neuropathy
Mendeliome v0.4515 TECPR2 Zornitza Stark Publications for gene: TECPR2 were set to
Mendeliome v0.4514 TECPR2 Zornitza Stark Mode of inheritance for gene: TECPR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4513 TECPR2 Zornitza Stark reviewed gene: TECPR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23176824, 26542466; Phenotypes: Spastic paraplegia 49, autosomal recessive, MIM# 615031, Autonomic-sensory neuropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3532 CPA1 Zornitza Stark Marked gene: CPA1 as ready
Mendeliome v0.3532 CPA1 Zornitza Stark Gene: cpa1 has been classified as Green List (High Evidence).
Mendeliome v0.3532 CPA1 Zornitza Stark Phenotypes for gene: CPA1 were changed from to Susceptibility to chronic pancreatitis; Hereditary pancreatitis
Mendeliome v0.3531 CPA1 Zornitza Stark Publications for gene: CPA1 were set to
Mendeliome v0.3530 CPA1 Zornitza Stark Mode of inheritance for gene: CPA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3529 CPA1 Zornitza Stark reviewed gene: CPA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23955596, 28497564, 28258133, 31005883; Phenotypes: Susceptibility to chronic pancreatitis, Hereditary pancreatitis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3192 NME5 Zornitza Stark gene: NME5 was added
gene: NME5 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NME5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NME5 were set to 32185794
Phenotypes for gene: NME5 were set to Primary ciliary dyskinesia
Review for gene: NME5 was set to AMBER
Added comment: One patient with PCD with situs solitus, with radial spokes (RS) and central pair (CP) defects. Patient had a homozygous nonsense variant in NME5, with parents as carriers. Morpholino knockdown of nme5 in zebrafish embryos resulted in motile cilia defects with phenotypes compatible with ciliopathy.
Sources: Literature
Mendeliome v0.2923 CPT1B Zornitza Stark Marked gene: CPT1B as ready
Mendeliome v0.2923 CPT1B Zornitza Stark Gene: cpt1b has been classified as Red List (Low Evidence).
Mendeliome v0.2923 CPT1B Zornitza Stark Publications for gene: CPT1B were set to
Mendeliome v0.2922 CPT1B Zornitza Stark Mode of inheritance for gene: CPT1B was changed from Unknown to Unknown
Mendeliome v0.2919 CPT1B Bryony Thompson Classified gene: CPT1B as Red List (low evidence)
Mendeliome v0.2919 CPT1B Bryony Thompson Gene: cpt1b has been classified as Red List (Low Evidence).
Mendeliome v0.2918 CPT1B Bryony Thompson reviewed gene: CPT1B: Rating: RED; Mode of pathogenicity: None; Publications: 18023382; Phenotypes: ; Mode of inheritance: Unknown
Mendeliome v0.2549 GAD1 Zornitza Stark changed review comment from: Single family reported with bi-allelic variants. Association studies linking with neuropsychiatric issues.; to: Single family reported with bi-allelic variants and CP phenotype. Association studies linking with neuropsychiatric issues.
Mendeliome v0.2520 CPSF1 Zornitza Stark Phenotypes for gene: CPSF1 were changed from Myopia 27, 618827; high myopia; early-onset high myopiaHigh myopia to Myopia 27, 618827; high myopia; early-onset high myopia
Mendeliome v0.2519 CPSF1 Zornitza Stark Marked gene: CPSF1 as ready
Mendeliome v0.2519 CPSF1 Zornitza Stark Gene: cpsf1 has been classified as Green List (High Evidence).
Mendeliome v0.2519 CPSF1 Zornitza Stark Classified gene: CPSF1 as Green List (high evidence)
Mendeliome v0.2519 CPSF1 Zornitza Stark Gene: cpsf1 has been classified as Green List (High Evidence).
Mendeliome v0.2401 CPSF1 Kristin Rigbye changed review comment from: 6 unrelated probands reported (3 nonsense, 1 frameshift, 1 splice, 1 missense) with variants all assumed to result in a loss of function. Variants were shown to be inherited from affected parents in 2 families. Gene-disease association was supported by knockdown of cpsf1 in zebrafish which caused abnormal ocular morphogenesis (30689892).
Sources: Literature; to: 6 unrelated probands reported (3 nonsense, 1 frameshift, 1 splice, 1 missense) with variants all assumed to result in a loss of function. Variants were shown to be inherited from affected parents in 2 families. Gene-disease association was supported by knockdown of cpsf1 in zebrafish which caused abnormal ocular morphogenesis (PMID: 30689892).
Sources: Literature
Mendeliome v0.2401 CPSF1 Kristin Rigbye edited their review of gene: CPSF1: Changed phenotypes: Myopia 27, 618827, high myopia, early-onset high myopia, high myopia
Mendeliome v0.2401 CPSF1 Kristin Rigbye gene: CPSF1 was added
gene: CPSF1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CPSF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CPSF1 were set to 30689892
Phenotypes for gene: CPSF1 were set to Myopia 27, 618827; high myopia; early-onset high myopiaHigh myopia
Review for gene: CPSF1 was set to GREEN
Added comment: 6 unrelated probands reported (3 nonsense, 1 frameshift, 1 splice, 1 missense) with variants all assumed to result in a loss of function. Variants were shown to be inherited from affected parents in 2 families. Gene-disease association was supported by knockdown of cpsf1 in zebrafish which caused abnormal ocular morphogenesis (30689892).
Sources: Literature
Mendeliome v0.2363 SYCP2 Zornitza Stark Marked gene: SYCP2 as ready
Mendeliome v0.2363 SYCP2 Zornitza Stark Gene: sycp2 has been classified as Green List (High Evidence).
Mendeliome v0.2363 SYCP2 Zornitza Stark Classified gene: SYCP2 as Green List (high evidence)
Mendeliome v0.2363 SYCP2 Zornitza Stark Gene: sycp2 has been classified as Green List (High Evidence).
Mendeliome v0.2362 SYCP2 Zornitza Stark gene: SYCP2 was added
gene: SYCP2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SYCP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SYCP2 were set to 32092049; 31866047
Phenotypes for gene: SYCP2 were set to Male infertility
Review for gene: SYCP2 was set to GREEN
Added comment: Four individuals and a zebrafish model.
Sources: Literature
Mendeliome v0.2351 CPT1C Bryony Thompson Marked gene: CPT1C as ready
Mendeliome v0.2351 CPT1C Bryony Thompson Gene: cpt1c has been classified as Green List (High Evidence).
Mendeliome v0.2351 CPT1C Bryony Thompson Classified gene: CPT1C as Green List (high evidence)
Mendeliome v0.2351 CPT1C Bryony Thompson Gene: cpt1c has been classified as Green List (High Evidence).
Mendeliome v0.2350 CPT1C Bryony Thompson gene: CPT1C was added
gene: CPT1C was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: CPT1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CPT1C were set to 25751282; 23973755
Phenotypes for gene: CPT1C were set to Spastic paraplegia 73, autosomal dominant MIM#616282
Review for gene: CPT1C was set to GREEN
Added comment: Two unrelated families dominant HSP and a supportive mouse model.
Sources: Expert list
Mendeliome v0.1987 IRAK1 Zornitza Stark gene: IRAK1 was added
gene: IRAK1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: IRAK1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: IRAK1 were set to 28069966
Phenotypes for gene: IRAK1 were set to Susceptibility to bacterial infections
Review for gene: IRAK1 was set to RED
Added comment: Single individual with MECP2 and IRAK1 deletion, died in infancy, immunological phenotype not fully elucidated. In vitro studies.
Sources: Expert list
Mendeliome v0.1145 DCPS Zornitza Stark Marked gene: DCPS as ready
Mendeliome v0.1145 DCPS Zornitza Stark Gene: dcps has been classified as Green List (High Evidence).
Mendeliome v0.1145 DCPS Zornitza Stark Classified gene: DCPS as Green List (high evidence)
Mendeliome v0.1145 DCPS Zornitza Stark Gene: dcps has been classified as Green List (High Evidence).
Mendeliome v0.1144 DCPS Zornitza Stark gene: DCPS was added
gene: DCPS was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: DCPS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCPS were set to 25701870; 30289615; 25712129
Phenotypes for gene: DCPS were set to Al-Raqad syndrome, MIM#616459
Review for gene: DCPS was set to GREEN
gene: DCPS was marked as current diagnostic
Added comment: 7 individuals from 3 families reported.
Sources: Expert list
Mendeliome v0.1083 TUBGCP6 Zornitza Stark Marked gene: TUBGCP6 as ready
Mendeliome v0.1083 TUBGCP6 Zornitza Stark Gene: tubgcp6 has been classified as Green List (High Evidence).
Mendeliome v0.1083 TUBGCP6 Zornitza Stark Phenotypes for gene: TUBGCP6 were changed from to Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM#251270
Mendeliome v0.1082 TUBGCP6 Zornitza Stark Publications for gene: TUBGCP6 were set to
Mendeliome v0.1081 TUBGCP6 Zornitza Stark Mode of inheritance for gene: TUBGCP6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1080 TUBGCP6 Zornitza Stark reviewed gene: TUBGCP6: Rating: GREEN; Mode of pathogenicity: None; Publications: 25344692, 22279524; Phenotypes: Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM#251270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.866 TUBGCP2 Zornitza Stark Marked gene: TUBGCP2 as ready
Mendeliome v0.866 TUBGCP2 Zornitza Stark Gene: tubgcp2 has been classified as Green List (High Evidence).
Mendeliome v0.866 TUBGCP2 Zornitza Stark Classified gene: TUBGCP2 as Green List (high evidence)
Mendeliome v0.866 TUBGCP2 Zornitza Stark Gene: tubgcp2 has been classified as Green List (High Evidence).
Mendeliome v0.865 TUBGCP2 Zornitza Stark gene: TUBGCP2 was added
gene: TUBGCP2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TUBGCP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TUBGCP2 were set to 31630790
Phenotypes for gene: TUBGCP2 were set to Lissencephaly; pachygyria; subcortical band heterotopia; microcephaly; intellectual disability
Review for gene: TUBGCP2 was set to GREEN
Added comment: Four unrelated families reported.
Sources: Literature
Mendeliome v0.556 CPLX1 Zornitza Stark Marked gene: CPLX1 as ready
Mendeliome v0.556 CPLX1 Zornitza Stark Gene: cplx1 has been classified as Green List (High Evidence).
Mendeliome v0.556 CPLX1 Zornitza Stark Classified gene: CPLX1 as Green List (high evidence)
Mendeliome v0.556 CPLX1 Zornitza Stark Gene: cplx1 has been classified as Green List (High Evidence).
Mendeliome v0.555 CPLX1 Zornitza Stark gene: CPLX1 was added
gene: CPLX1 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: CPLX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPLX1 were set to 26539891; 28422131
Phenotypes for gene: CPLX1 were set to Epileptic encephalopathy, early infantile, 63, MIM# 617976
Review for gene: CPLX1 was set to GREEN
Added comment: Five individuals from three unrelated families reported in larger neurodevelopmental cohorts.
Sources: Expert list
Mendeliome v0.119 CPA6 Zornitza Stark reviewed gene: CPA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 25875328, 21922598, 23105115; Phenotypes: Epilepsy, familial temporal lobe, 5, MIM#614417, Febrile seizures, familial, 11, MIM#614418; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.119 CP Zornitza Stark Marked gene: CP as ready
Mendeliome v0.119 CP Zornitza Stark Gene: cp has been classified as Green List (High Evidence).
Mendeliome v0.119 CP Zornitza Stark Phenotypes for gene: CP were changed from to Aceruloplasminaemia, MIM#604290
Mendeliome v0.118 CP Zornitza Stark Mode of inheritance for gene: CP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.117 CP Zornitza Stark reviewed gene: CP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aceruloplasminaemia, MIM#604290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.0 WDPCP Zornitza Stark gene: WDPCP was added
gene: WDPCP was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WDPCP was set to Unknown
Mendeliome v0.0 UCP3 Zornitza Stark gene: UCP3 was added
gene: UCP3 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UCP3 was set to Unknown
Mendeliome v0.0 UCP2 Zornitza Stark gene: UCP2 was added
gene: UCP2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UCP2 was set to Unknown
Mendeliome v0.0 TUBGCP6 Zornitza Stark gene: TUBGCP6 was added
gene: TUBGCP6 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TUBGCP6 was set to Unknown
Mendeliome v0.0 TUBGCP4 Zornitza Stark gene: TUBGCP4 was added
gene: TUBGCP4 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TUBGCP4 was set to Unknown
Mendeliome v0.0 TECPR2 Zornitza Stark gene: TECPR2 was added
gene: TECPR2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TECPR2 was set to Unknown
Mendeliome v0.0 SYCP3 Zornitza Stark gene: SYCP3 was added
gene: SYCP3 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SYCP3 was set to Unknown
Mendeliome v0.0 SCP2 Zornitza Stark gene: SCP2 was added
gene: SCP2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SCP2 was set to Unknown
Mendeliome v0.0 MECP2 Zornitza Stark gene: MECP2 was added
gene: MECP2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MECP2 was set to Unknown
Mendeliome v0.0 MCPH1 Zornitza Stark gene: MCPH1 was added
gene: MCPH1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MCPH1 was set to Unknown
Mendeliome v0.0 CPT2 Zornitza Stark gene: CPT2 was added
gene: CPT2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CPT2 was set to Unknown
Mendeliome v0.0 CPT1B Zornitza Stark gene: CPT1B was added
gene: CPT1B was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CPT1B was set to Unknown
Mendeliome v0.0 CPT1A Zornitza Stark gene: CPT1A was added
gene: CPT1A was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CPT1A was set to Unknown
Mendeliome v0.0 CPS1 Zornitza Stark gene: CPS1 was added
gene: CPS1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CPS1 was set to Unknown
Mendeliome v0.0 CPOX Zornitza Stark gene: CPOX was added
gene: CPOX was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CPOX was set to Unknown
Mendeliome v0.0 CPN1 Zornitza Stark gene: CPN1 was added
gene: CPN1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CPN1 was set to Unknown
Mendeliome v0.0 CPAMD8 Zornitza Stark gene: CPAMD8 was added
gene: CPAMD8 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CPAMD8 was set to Unknown
Mendeliome v0.0 CPA6 Zornitza Stark gene: CPA6 was added
gene: CPA6 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CPA6 was set to Unknown
Mendeliome v0.0 CPA1 Zornitza Stark gene: CPA1 was added
gene: CPA1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CPA1 was set to Unknown
Mendeliome v0.0 CP Zornitza Stark gene: CP was added
gene: CP was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CP was set to Unknown
Mendeliome v0.0 ACP5 Zornitza Stark gene: ACP5 was added
gene: ACP5 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ACP5 was set to Unknown
Mendeliome v0.0 ACP4 Zornitza Stark gene: ACP4 was added
gene: ACP4 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ACP4 was set to Unknown
Mendeliome v0.0 ACP2 Zornitza Stark gene: ACP2 was added
gene: ACP2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ACP2 was set to Unknown