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Prepair 1000+ v1.1566 SSR4 Andrew Coventry reviewed gene: SSR4: Rating: GREEN; Mode of pathogenicity: None; Publications: 4218363, 26264460, 33300232, 38805916; Phenotypes: Congenital disorder of glycosylation, type Iy MIM#300934; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1566 OPHN1 Andrew Coventry reviewed gene: OPHN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12807966, 16221952, 16221952, 29510240, 12807966, 16158428, 25649377, 24105372; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Billuart type MIM#300486, X-linked intellectual disability-cerebellar hypoplasia syndrome MONDO:0010337; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1566 NHS Andrew Coventry reviewed gene: NHS: Rating: GREEN; Mode of pathogenicity: None; Publications: 31755796, 25266737, 14564667, 18949062; Phenotypes: Nance-Horan syndrome MIM#302350, Cataract 40, X-linked MIM#302200; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1550 ZC4H2 Zornitza Stark Mode of inheritance for gene: ZC4H2 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)
Prepair 1000+ v1.1522 SYN1 Zornitza Stark reviewed gene: SYN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1512 WAS Zornitza Stark reviewed gene: WAS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1503 ZIC3 Marta Cifuentes Ochoa reviewed gene: ZIC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 29442328, 27406248, 20452998; Phenotypes: Congenital heart defects, nonsyndromic, 1, X-linked (MIM#306955), Heterotaxy, visceral, 1, X-linked (MIM#306955, MONDO:0010607), VACTERL association, X-linked, MIM# 314390, MONDO:0010752; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1482 MECP2 Zornitza Stark Mode of inheritance for gene: MECP2 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)
Prepair 1000+ v1.1460 MECP2 Andrew Coventry reviewed gene: MECP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11402105, 10577905, 11071498, 16647997, 10508514, 31206249, 10986043, 11807877; Phenotypes: Encephalopathy, neonatal severe MIM#300673, Intellectual developmental disorder, X-linked syndromic 13 MIM#300055, Intellectual developmental disorder, X-linked syndromic, Lubs type MIM#300260; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1456 IL1RAPL1 Clare Hunt reviewed gene: IL1RAPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18801879, 16470793, 18005360, 21484992, 19012350; Phenotypes: Intellectual developmental disorder, X-linked 21, MIM#300143; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1456 PHF8 Clare Hunt reviewed gene: PHF8: Rating: GREEN; Mode of pathogenicity: None; Publications: 35469323, 10398231, 18498374, 16199551, 17661819; Phenotypes: Mental retardation syndrome, X-linked, Siderius type, MIM#300263; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1456 ZC4H2 Michelle Torres reviewed gene: ZC4H2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31206972, 37010288; Phenotypes: Wieacker-Wolff syndrome MIM#314580; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1456 ZAP70 Michelle Torres commented on gene: ZAP70: The ZAP70 gene is associated with both Autoimmune disease, multisystem, infantile-onset, 2 MIM#617006 and Immunodeficiency 48 MIM#269840.

Genotype-phenotype correlation:
- ZAP70 LoF variants cause Immunodeficiency 48 MIM#269840 characterised by low CD8 number, normal CD4 number but with poor function.
- ZAP70 combined hypomorphic and activating mutations cause decreased CD8, normal or decreased CD4 cells and severe autoimmunity resulting in Autoimmune disease, multisystem, infantile-onset, 2.
Prepair 1000+ v1.1456 UPF3B Michelle Torres reviewed gene: UPF3B: Rating: GREEN; Mode of pathogenicity: None; Publications: 26012578, 38318947; Phenotypes: Intellectual developmental disorder, X-linked syndromic 14 MIM#300676; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1456 UBA1 Michelle Torres reviewed gene: UBA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18179898, 32181232, 31932168, 29034082, 27699224, 26028276, 23518311, 39762237; Phenotypes: Spinal muscular atrophy, X-linked 2, infantile MIM#301830; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1456 UBA1 Michelle Torres reviewed gene: UBA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18179898, 32181232, 31932168, 29034082, 27699224, 26028276, 23518311; Phenotypes: Spinal muscular atrophy, X-linked 2, infantile MIM#301830; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1394 MUT Zornitza Stark Marked gene: MUT as ready
Prepair 1000+ v1.1394 MUT Zornitza Stark Gene: mut has been classified as Green List (High Evidence).
Prepair 1000+ v1.1394 MUT Zornitza Stark Phenotypes for gene: MUT were changed from Methylmalonic aciduria, mut(0) type, 251000 (3) to Methylmalonic aciduria, mut(0) type, MIM# 251000
Prepair 1000+ v1.1367 ZDHHC9 Clare Hunt reviewed gene: ZDHHC9: Rating: GREEN; Mode of pathogenicity: None; Publications: 26000327, 29681091, 28687527; Phenotypes: Syndromic X-linked intellectual disability, Raymond type MIM#300799 MONDO:0010427; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1367 MUT Lauren Thomas changed review comment from: Isolated methylmalonic aciduria is found in patients with mutations in the MUT gene causing partial, mut(-), or complete, mut(0), enzyme deficiency. Variable severity and age of onset:
• Infantile completely deficient (mut0) or non-B12-responsive (clbB) is the most common phenotype and presents during infancy. Infants are normal at birth, but develop lethargy, vomiting, and dehydration within the first few months of life. They may also exhibit hepatomegaly, hypotonia, encephalopathy, metabolic acidosis, ketosis and ketonuria, hyperammonemia, and hyperglycemia.
• Partially deficient (mut-) or B12-responsive (cblA, cblD, rarely cblB) is an intermediate phenotype that can occur in the first few months or years of life. Symptoms include feeding problems, failure to thrive, hypotonia, and developmental delay. Some have protein aversion and vomiting, and lethargy after protein intake.

HGNC approved symbol/name: MMUT *
Is the phenotype(s) severe and onset <18yo? Yes
Treatments available: cobalamin, N-carbamylglutamate, carnitine, diet, liver transplant
Known technical challenges? No
Gene reported in 3 independent families: Yes

* NOTE: gene previously called MUT; to: Isolated methylmalonic aciduria is found in patients with mutations in the MUT gene causing partial, mut(-), or complete, mut(0), enzyme deficiency. Variable severity and age of onset:

• Infantile completely deficient (mut0) or non-B12-responsive (clbB) is the most common phenotype and presents during infancy. Infants are normal at birth, but develop lethargy, vomiting, and dehydration within the first few months of life. They may also exhibit hepatomegaly, hypotonia, encephalopathy, metabolic acidosis, ketosis and ketonuria, hyperammonemia, and hyperglycemia.

• Partially deficient (mut-) or B12-responsive (cblA, cblD, rarely cblB) is an intermediate phenotype that can occur in the first few months or years of life. Symptoms include feeding problems, failure to thrive, hypotonia, and developmental delay. Some have protein aversion and vomiting, and lethargy after protein intake.

HGNC approved symbol/name: MMUT *
Is the phenotype(s) severe and onset <18yo? Yes
Treatments available: cobalamin, N-carbamylglutamate, carnitine, diet, liver transplant
Known technical challenges? No
Gene reported in 3 independent families: Yes

* NOTE: gene previously called MUT
Prepair 1000+ v1.1367 MUT Lauren Thomas reviewed gene: MUT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Methylmalonic aciduria, mut(0) type, MIM# 251000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1357 MAOA Lauren Thomas reviewed gene: MAOA: Rating: GREEN; Mode of pathogenicity: None; Publications: 25807999, 24169519, 8503438, 37750385; Phenotypes: Brunner syndrome, MIM# 300615; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1348 HSD17B10 Crystle Lee reviewed gene: HSD17B10: Rating: GREEN; Mode of pathogenicity: None; Publications: 38841322, 22127393; Phenotypes: HSD10 mitochondrial disease, MIM#300438; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1346 FMR1 Zornitza Stark reviewed gene: FMR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fragile X syndrome, MIM #300624; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1257 UBE2A Kate Scarff reviewed gene: UBE2A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 16909393, 24053514, 21108393, 20412111; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Nascimento type, MIM #300860; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1257 EDA Melanie Marty reviewed gene: EDA: Rating: GREEN; Mode of pathogenicity: None; Publications: 27144394, 8696334, 9507389, 9683615, 18657636; Phenotypes: Ectodermal dysplasia 1, hypohidrotic, X-linked MIM#305100, Tooth agenesis, selective, X-linked 1 MIM#313500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1257 POLA1 Michelle Torres reviewed gene: POLA1: Rating: GREEN; 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
Prepair 1000+ v1.1257 FLNA Crystle Lee reviewed gene: FLNA: Rating: GREEN; Mode of pathogenicity: None; Publications: 30089473, 26471271, 22366253; Phenotypes: Cardiac valvular dysplasia, X-linked, MIM#314400, Congenital short bowel syndrome, MIM#300048, Frontometaphyseal dysplasia 1, MIM#305620, Heterotopia, periventricular, 1, MIM#300049, Intestinal pseudoobstruction, neuronal, MIM#300048, Melnick-Needles syndrome, MIM#309350, Otopalatodigital syndrome, type I, MIM#311300, Otopalatodigital syndrome, type II, MIM#304120, Terminal osseous dysplasia, MIM#300244; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1257 VMA21 Michelle Torres reviewed gene: VMA21: Rating: GREEN; Mode of pathogenicity: None; Publications: 27916343, 25809233, 23315026, 36553512; Phenotypes: Myopathy, X-linked, with excessive autophagy MIM#310440; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1257 RPS6KA3 Crystle Lee reviewed gene: RPS6KA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 16879200; Phenotypes: Coffin-Lowry syndrome, MIM#303600, Intellectual developmental disorder, X-linked 19, MIM#300844; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1257 COL4A5 Crystle Lee reviewed gene: COL4A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 36531881, 19965530, 36341250; Phenotypes: Alport syndrome 1, X-linked, MIM#301050; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1257 TMEM138 Kate Scarff changed review comment from: Characterized by the molar tooth sign on brain imaging (cerebellar and brain stem malformation), oculomotor apraxia, variable coloboma, and rare kidney involvement, hypotonia and dev delay.
Described in 8 consanguineous Arab families (6 different homozygous mutations).; to: Characterized by the molar tooth sign on brain imaging (cerebellar and brain stem malformation), oculomotor apraxia, variable coloboma, and rare kidney involvement, hypotonia and dev delay.
Described in 8 consanguineous Arab families (6 different homozygous mutations).
MIM #614465
Prepair 1000+ v1.1235 PLP1 Marta Cifuentes Ochoa reviewed gene: PLP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301361, 22343157, 24095575; Phenotypes: Pelizaeus-Merzbacher disease MIM#312080, Pelizeaus-Merzbacher spectrum disorder MONDO:0010714, Spastic paraplegia 2, X-linked MIM#312920, hereditary spastic paraplegia 2 MONDO:0010733; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1064 PDHA1 Michelle Torres reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22142326; Phenotypes: Pyruvate dehydrogenase E1-alpha deficiency MIM#312170; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1011 SYP Zornitza Stark reviewed gene: SYP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, X-linked 96 (MIM#300802); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.992 SYP Ee Ming Wong reviewed gene: SYP: Rating: AMBER; Mode of pathogenicity: None; Publications: 23966691, 19377476; Phenotypes: Intellectual developmental disorder, X-linked 96 (MIM#300802); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Prepair 1000+ v1.992 STIL Ee Ming Wong changed review comment from: - More than 10 unrelated families reported.
- Onset at birth
- PMID: 24485834; 29352115: Complete loss of STIL is not compatible with life. Genetic mutations in human STIL result in
1. residual expression or
2. stabilization of STIL: PTCs that delete of the critical C-terminal KEN Box domain involved in Anaphase-Promoting-Complex/Cyclosome (APC/C)-mediated degradation of STIL5 were shown to result in mutant STIL stabilization and accumulation and subsequent centriole amplification. Demonstrated for p.(Val1219X) and p.(Gln1239X), suggested gain of function.; to: - More than 10 unrelated families reported.
- Onset at birth
- PMID: 24485834; 29352115: Complete loss of STIL is not compatible with life. Genetic mutations in human STIL result in
1. residual expression or
2. stabilization of mutant STIL: PTCs that delete of the critical C-terminal KEN Box domain involved in Anaphase-Promoting-Complex/Cyclosome (APC/C)-mediated degradation of STIL5 were shown to result in mutant STIL stabilization and accumulation and subsequent centriole amplification. Demonstrated for p.(Val1219X) and p.(Gln1239X), suggested gain of function.
Prepair 1000+ v1.992 TBX22 Ee Ming Wong reviewed gene: TBX22: Rating: AMBER; Mode of pathogenicity: None; Publications: 36901693, 22784330, 21375406; Phenotypes: Cleft palate with ankyloglossia (MIM# 303400); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Prepair 1000+ v1.992 EIF2S3 Clare Hunt reviewed gene: EIF2S3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23063529, 27333055, 28055140; Phenotypes: MEHMO syndrome, MIM# 300148; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.992 EDAR Clare Hunt reviewed gene: EDAR: Rating: GREEN; Mode of pathogenicity: None; Publications: 10431241, 16435307, 20979233, 23401279; Phenotypes: autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619, autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Prepair 1000+ v1.992 TAZ Ee Ming Wong reviewed gene: TAZ: Rating: GREEN; Mode of pathogenicity: None; Publications: 25299040; Phenotypes: Barth syndrome (MIM# 302060); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Prepair 1000+ v1.992 EFNB1 Michelle Torres reviewed gene: EFNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15166289, 18627045, 23335590; Phenotypes: Craniofrontonasal dysplasia MIM#304110; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.992 NAA10 Ee Ming Wong reviewed gene: NAA10: Rating: GREEN; Mode of pathogenicity: None; Publications: 26522270, 34200686, 37130971, 30842225, 2443133134075687; Phenotypes: Ogden syndrome (MIM#300855), Syndromic microphthalmia 1 (MIM#309800); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Prepair 1000+ v1.986 DKC1 Lilian Downie reviewed gene: DKC1: Rating: ; Mode of pathogenicity: None; Publications: PMID: 20301779; Phenotypes: Dyskeratosis congenita, X-linked MIM#305000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.984 SLC16A2 Kate Scarff reviewed gene: SLC16A2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301789, 20083155, 15980113; Phenotypes: Allan-Herndon-Dudley syndrome, MIM #300523; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.984 RP2 Kate Scarff reviewed gene: RP2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 10053026, 11462235, 22131869, 8225316, 26143542, 16969763, 14564670; Phenotypes: Retinitis pigmentosa 2, MIM #312600; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.978 ZNF711 Zornitza Stark reviewed gene: ZNF711: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, X-linked 97, MIM# 300803; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.978 RBCK1 Kate Scarff changed review comment from: Characterized by onset in childhood of progressive proximal muscle weakness, resulting in difficulties in ambulation. Most patients also develop progressive dilated cardiomyopathy, which may necessitate cardiac transplant in severe cases. A small subset of patients present with severe immunodeficiency and a hyperinflammatory state in very early childhood.

A 32kb deletion which included the three last exons of TRIB3 and the first four exons of RBCK1 was identified in one family, also had a nonsense mutation (PMID: 23104095).

The nature and localization of the underlying mutation might predict the phenotype, with N-terminal mutations mainly causing immunological dysfunction. In contrast, variants in the middle- or C-terminal regions were presumed to predominantly cause cardiomyopathy and neuromuscular symptoms. Further, it was suggested that truncating variants might generally result in more severe phenotypes than missense mutations. Frameshift mutations beyond the N-terminus
of RBCK1 may lead to a combined phenotype including both myopathy and immunological dysfunction in single
families (PMID: 29260357).; to: Characterized by onset in childhood of progressive proximal muscle weakness, resulting in difficulties in ambulation. Most patients also develop progressive dilated cardiomyopathy, which may necessitate cardiac transplant in severe cases. A small subset of patients present with severe immunodeficiency and a hyperinflammatory state in very early childhood.

A 32kb deletion which included the three last exons of TRIB3 and the first four exons of RBCK1 was identified in one family, also had a nonsense mutation (PMID: 23104095).

The nature and localization of the underlying mutation might predict the phenotype, with N-terminal mutations mainly causing immunological dysfunction. In contrast, variants in the middle- or C-terminal regions were presumed to predominantly cause cardiomyopathy and neuromuscular symptoms. Further, it was suggested that truncating variants might generally result in more severe phenotypes than missense mutations. Frameshift mutations beyond the N-terminus of RBCK1 may lead to a combined phenotype including both myopathy and immunological dysfunction in single families (PMID: 29260357).
Prepair 1000+ v1.978 RAB39B Kate Scarff reviewed gene: RAB39B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25434005, 34761259, 29152164, 20159109; Phenotypes: Intellectual developmental disorder, X-linked 72, MIM #300271; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.978 PIH1D3 Kate Scarff reviewed gene: PIH1D3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28176794, 28041644, 20301301; Phenotypes: Ciliary dyskinesia, primary, 36, X-linked, MIM #300991; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.978 MID1 Marta Cifuentes Ochoa reviewed gene: MID1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301502, 9354791; Phenotypes: Opitz GBBB syndrome MIM#300000, MONDO:0017138; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.978 NSDHL Kate Scarff reviewed gene: NSDHL: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19842190, 21129721, 34091503, 23042573; Phenotypes: CK syndrome, MIM #300831; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.978 NEXMIF Kate Scarff reviewed gene: NEXMIF: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27358180, 33144681; Phenotypes: Intellectual developmental disorder, 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)
Prepair 1000+ v1.961 ARX Zornitza Stark reviewed gene: ARX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 1 MIM#308350, Hydranencephaly with abnormal genitalia MIM#300215, Lissencephaly, X-linked 2 MIM#300215, Intellectual disability, X-linked 29 and others MIM#300419, Partington syndrome MIM#309510, Proud syndrome MIM#300004; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.934 CD40LG Lilian Downie reviewed gene: CD40LG: Rating: GREEN; Mode of pathogenicity: None; Publications: 7679801, 7679206, 8094231, 9933119, 15358621, 15997875, 7678782, 7915248, 15367912, 7518839, 16311023, 9933119, 12402041, 7882172, 33475257; Phenotypes: Immunodeficiency, X-linked, with hyper-IgM MIM# 308230; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.930 PRPS1 Zornitza Stark Mode of inheritance for gene: PRPS1 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)
Prepair 1000+ v1.857 CLCN5 Zornitza Stark reviewed gene: CLCN5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dent disease, MIM#300009; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.852 CUL4B Zornitza Stark reviewed gene: CUL4B: Rating: GREEN; Mode of pathogenicity: None; Publications: 17236139, 19377476; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Cabezas type, MIM#300354; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.837 XIAP Shakira Heerah reviewed gene: XIAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 22228567, 20489057, 17080092, 24942515, 25943627; Phenotypes: Lymphoproliferative syndorme, X-linked, 2 MIM#300635; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.837 HAX1 Kate Scarff changed review comment from: Severe congenital neutropenia-3 is an autosomal recessive bone marrow failure disorder characterized by low numbers of neutrophils, increased susceptibility to bacterial and fungal infections, and increased risk of developing myelodysplastic syndrome or acute myeloid leukemia. In addition, patients with HAX1 mutations affecting both isoform A and B of the gene develop neurologic abnormalities; to: Severe congenital neutropenia-3 is an autosomal recessive bone marrow failure disorder characterized by low numbers of neutrophils, increased susceptibility to bacterial and fungal infections, and increased risk of developing myelodysplastic syndrome or acute myeloid leukemia. In addition, patients with HAX1 mutations affecting both isoform A and B of the gene develop neurologic abnormalities.
MIM #610738
Prepair 1000+ v1.836 GUCY2D Kate Scarff changed review comment from: LCA1 is a congenital eye disorder that primarily affects the retina and causes vision loss, nystagmus, and severe retinal dysfunction. People with this disorder typically have severe visual impairment beginning at birth or shortly afterward. The visual impairment tends to be severe and may worsen over time.

Cone-rod dystrophy 6, MIM #601777 is a dominant condition due to heterozygous mutations in GUCY2D, not reportable for Prepair1000+.
Autosomal recessive GUCY2D mutations may cause congenital night blindness with normal acuity and refraction, and unique electroretinography. Progression to mild retinitis pigmentosa may occur. See PMID: 29559409. Not reportable for Prepair1000+ (severity).; to: LCA1 is a congenital eye disorder that primarily affects the retina and causes vision loss, nystagmus, and severe retinal dysfunction. People with this disorder typically have severe visual impairment beginning at birth or shortly afterward. The visual impairment tends to be severe and may worsen over time.

Cone-rod dystrophy 6, MIM #601777 is a dominant condition due to heterozygous mutations in GUCY2D, not reportable for Prepair1000+. See PMID: 35205358
Autosomal recessive GUCY2D mutations may cause congenital night blindness with normal acuity and refraction, and unique electroretinography. Progression to mild retinitis pigmentosa may occur. See PMID: 29559409. Not reportable for Prepair1000+ (severity).
Prepair 1000+ v1.836 EMD Lauren Thomas reviewed gene: EMD: Rating: GREEN; Mode of pathogenicity: None; Publications: 21697856, 31802929, 31645980; Phenotypes: Emery-Dreifuss muscular dystrophy 1, X-linked, MIM# 310300; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.836 PRPS1 Lucy Spencer reviewed gene: PRPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: PRPS1 deficiency disorder MONDO:0100061, Phosphoribosylpyrophosphate synthetase superactivity MIM#300661 MONDO:0010395; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.825 GJB1 Lucy Spencer reviewed gene: GJB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301548; Phenotypes: Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.761 CLDN19 Karina Sandoval changed review comment from: Dental anomalies on the AI spectrum are a feature of this primarily renal disorder. Macular coloboma is part of the phenotype.

Variable age of onset of deafness, progressive, generally in the first decade.

PMID 27530400 - 9 indiv from 6 families, age at onset of symtpoms ranging from 0-9 years with varying severity of symptoms ranging frrom FTT to polydipsia. Oldest age at CKD diagnosis was 15 years.

PMID 17033971 - 12 patients affected with hypomagnesemia, renal failure, and severe ocular abnormalities. Age at onset of symptoms was 0-8 years.

PMID 22422540 - 23 indiv with familial hypomagnesemia with hypercalciuria and nephrocalcinosis, median age at onset 9.5years. CKD was more frequently observed in patients with CLDN19 mutations: survival without CKD or ESRD was 56% at 20 years of age; to: Dental anomalies on the AI spectrum are a feature of this primarily renal disorder. Macular coloboma is part of the phenotype.

Variable age of onset of deafness, progressive, generally in the first decade.

PMID 27530400 - 9 indiv from 6 families, age at onset of symtpoms ranging from 0-9 years with varying severity of symptoms ranging frrom FTT to polydipsia. Oldest age at CKD diagnosis was 15 years.

PMID 17033971 - 12 patients affected with hypomagnesemia, renal failure, and severe ocular abnormalities. Age at onset of symptoms was 0-8 years.

PMID 22422540 - 23 indiv with familial hypomagnesemia with hypercalciuria and nephrocalcinosis, median age at onset 9.5years. CKD was more frequently observed in patients with CLDN19 mutations: survival without CKD or ESRD was 56% at 20 years of age
Prepair 1000+ v1.714 DLG3 Melanie Marty reviewed gene: DLG3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24721225, 28777483; Phenotypes: Intellectual developmental disorder, X-linked 90 MIM#300850; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.633 TIMM8A Andrew Coventry reviewed gene: TIMM8A: Rating: GREEN; Mode of pathogenicity: None; Publications: 11803487, 11405816, 7643352; Phenotypes: Mohr-Tranebjaerg syndrome MIM#304700; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.633 SMS Andrew Coventry reviewed gene: SMS: Rating: GREEN; Mode of pathogenicity: None; Publications: 30237987, 34177437, 32838743, 23805436; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type MIM#309583; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.633 SLC9A6 Andrew Coventry reviewed gene: SLC9A6: Rating: GREEN; Mode of pathogenicity: None; Publications: 18342287, 19377476, 25044251, 33278113, 32569089, 31879735, 31192222, 35198730; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Christianson type MIM#300243; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.633 SLC26A2 Andrew Coventry changed review comment from: Well established gene disease association causing skeletal abnormalities of varying severity.
Variants in this gene have been shown to cause achondrogenesis type 1B, atelosteogenesis type 2, diastrophic dysplasia, and recessive multiple epiphyseal dysplasia, which comprise a spectrum of phenotypes (depending on level of residual sulfate transport). Onset/features can often be observed neonatally.
Mouse models present for some phenotypes, and functional studies are present.

Homozygosity or compound heterozygosity for stop codons or transmembrane domain substitutions mostly result in achondrogenesis type IB, whereas other structural or regulatory mutations usually result in one of the less severe phenotypes (PMID: 8723100)

Unsure of phenotypes to list under condition. Clingen includes curations for:
diastrophic dysplasia MONDO:0009107
multiple epiphyseal dysplasia MONDO:0016648
atelosteogenesis type II MONDO:0009727
achondrogenesis type IB MONDO:0010966
OMIM phenotypes (6) listed above.; to: Well established gene disease association causing skeletal abnormalities of varying severity.
Variants in this gene have been shown to cause achondrogenesis type 1B, atelosteogenesis type 2, diastrophic dysplasia, and recessive multiple epiphyseal dysplasia, which comprise a spectrum of phenotypes (depending on level of residual sulfate transport). Onset/features can often be observed neonatally.
Mouse models present for some phenotypes, and functional studies are present.

Homozygosity or compound heterozygosity for stop codons or transmembrane domain substitutions mostly result in achondrogenesis type IB, whereas other structural or regulatory variants usually result in one of the less severe phenotypes (PMID: 8723100)

Unsure of phenotypes to list under condition. Clingen includes curations for:
diastrophic dysplasia MONDO:0009107
multiple epiphyseal dysplasia MONDO:0016648
atelosteogenesis type II MONDO:0009727
achondrogenesis type IB MONDO:0010966
OMIM phenotypes (6) listed above.
Prepair 1000+ v1.633 SLC26A2 Andrew Coventry changed review comment from: Well established gene disease association causing skeletal abnormalities of varying severity.
Variants in this gene have been shown to cause achondrogenesis type 1B, atelosteogenesis type 2, diastrophic dysplasia, and recessive multiple epiphyseal dysplasia, which comprise a spectrum of phenotypes (depending on level of residual sulfate transport). Onset can be neonatal.
Mouse models present for some phenotypes, and functional studies are present.

Homozygosity or compound heterozygosity for stop codons or transmembrane domain substitutions mostly result in achondrogenesis type IB, whereas other structural or regulatory mutations usually result in one of the less severe phenotypes (PMID: 8723100)

Unsure of phenotypes to list under condition. Clingen includes curations for:
diastrophic dysplasia MONDO:0009107
multiple epiphyseal dysplasia MONDO:0016648
atelosteogenesis type II MONDO:0009727
achondrogenesis type IB MONDO:0010966
OMIM phenotypes (6) listed above.; to: Well established gene disease association causing skeletal abnormalities of varying severity.
Variants in this gene have been shown to cause achondrogenesis type 1B, atelosteogenesis type 2, diastrophic dysplasia, and recessive multiple epiphyseal dysplasia, which comprise a spectrum of phenotypes (depending on level of residual sulfate transport). Onset/features can often be observed neonatally.
Mouse models present for some phenotypes, and functional studies are present.

Homozygosity or compound heterozygosity for stop codons or transmembrane domain substitutions mostly result in achondrogenesis type IB, whereas other structural or regulatory mutations usually result in one of the less severe phenotypes (PMID: 8723100)

Unsure of phenotypes to list under condition. Clingen includes curations for:
diastrophic dysplasia MONDO:0009107
multiple epiphyseal dysplasia MONDO:0016648
atelosteogenesis type II MONDO:0009727
achondrogenesis type IB MONDO:0010966
OMIM phenotypes (6) listed above.
Prepair 1000+ v1.633 SLC16A1 Andrew Coventry reviewed gene: SLC16A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25390740, 20301549, 36082648, 35729663; Phenotypes: Monocarboxylate transporter 1 deficiency MIM#616095; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Prepair 1000+ v1.633 SH2D1A Andrew Coventry reviewed gene: SH2D1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 6306053, 9771704, 11049992, 20301580; Phenotypes: Lymphoproliferative syndrome, X-linked, 1 MIM#308240; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.633 RPL10 Andrew Coventry reviewed gene: RPL10: Rating: GREEN; Mode of pathogenicity: None; Publications: 25316788, 25846674, 26290468, 29066376, 35876338; Phenotypes: Intellectual developmental disorder, X-linked syndromic 35 MIM#300998; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.633 HCFC1 Crystle Lee reviewed gene: HCFC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34164576; Phenotypes: Methylmalonic aciduria and homocysteinemia, cblX type, MIM#309541; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.633 GPR143 Crystle Lee reviewed gene: GPR143: Rating: AMBER; Mode of pathogenicity: None; Publications: 30555098, 29761529; Phenotypes: Nystagmus 6, congenital, X-linked, MIM#300814, Ocular albinism, type I, Nettleship-Falls type, MIM#300500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.633 IDS Ee Ming Wong reviewed gene: IDS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301451; Phenotypes: Mucopolysaccharidosis II, MIM# 309900, Hunter syndrome, MONDO:0010674; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Prepair 1000+ v1.633 MTM1 Andrew Coventry reviewed gene: MTM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10790201, 8640223, 27017278, 26938784, 15725586, 30232666, 37176116, 32805447, 31541013; Phenotypes: Myopathy, centronuclear, X-linked MIM#310400; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.633 HPRT1 Ee Ming Wong reviewed gene: HPRT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301328; Phenotypes: Lesch-Nyhan syndrome (MIM#300322); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Prepair 1000+ v1.633 GPC3 Kate Scarff reviewed gene: GPC3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301398, 38766979; Phenotypes: Simpson-Golabi-Behmel syndrome, type 1, MIM #312870; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.592 ATP6AP1 Melanie Marty reviewed gene: ATP6AP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27231034, 32048120; Phenotypes: Immunodeficiency 47, MIM#300972; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.547 FOXP3 Ee Ming Wong reviewed gene: FOXP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 11295725, 11137993, 33668198, 33614561, 33330291, 32234571; Phenotypes: Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (MIM#304790); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Prepair 1000+ v1.546 GDI1 Kate Scarff reviewed gene: GDI1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28863211, 22002931, 9620768, 9668174; Phenotypes: Intellectual developmental disorder, X-linked 41, MIM #300849; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.546 FMR1 Kate Scarff reviewed gene: FMR1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301558, 28176767, 29178241; Phenotypes: Fragile X syndrome, MIM #300624; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.545 OFD1 Lucy Spencer reviewed gene: OFD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22619378, 31373179, 23033313, 16783569; Phenotypes: Joubert syndrome 10 MIM#300804, Simpson-Golabi-Behmel syndrome, type 2 MIM#300209, Retinitis pigmentosa 23 MIM#300424; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.486 RLIM Lucy Spencer reviewed gene: RLIM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tonne-Kalscheuer syndrome MIM#300978; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.486 DMD Andrew Coventry reviewed gene: DMD: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301298; Phenotypes: Becker muscular dystrophy MIM#300376, Duchenne muscular dystrophy MIM#310200; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.486 DMD Andrew Coventry reviewed gene: DMD: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301298 16770791; Phenotypes: Becker muscular dystrophy MIM#300376, Duchenne muscular dystrophy MIM#310200, Cardiomyopathy, dilated, 3B MIM#302045; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.420 COL6A1 Andrew Coventry reviewed gene: COL6A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301676 25535305 15955946 23738969 29277723 24443028; Phenotypes: Ullrich congenital muscular dystrophy 1A MIM#254090; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Prepair 1000+ v1.420 COL18A1 Andrew Coventry reviewed gene: COL18A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27259167 25456301 30007336; Phenotypes: Knobloch syndrome, type 1 MIM#267750; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Prepair 1000+ v1.420 HUWE1 Lisa Norbart reviewed gene: HUWE1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29180823, 7943042, 27130160; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Turner type, MIM#309590; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.420 BGN Andrew Coventry reviewed gene: BGN: Rating: GREEN; Mode of pathogenicity: None; Publications: 38531898; Phenotypes: Meester-Loeys syndrome MIM#300989 Spondyloepimetaphyseal dysplasia, X-linked MIM#300106; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.390 NDUFA1 Lucy Spencer reviewed gene: NDUFA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 12 MIM#301020; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.390 THOC2 Andrew Coventry reviewed gene: THOC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26166480 32116545 29851191 32960281 34976470 37945483; Phenotypes: Intellectual developmental disorder, X-linked 12 MIM#300957; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.390 CFP Crystle Lee reviewed gene: CFP: Rating: GREEN; Mode of pathogenicity: None; Publications: 22229731, 10909851; Phenotypes: Properdin deficiency, X-linked (MIM#312060); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.348 HK1 Lilian Downie Added comment: Comment when marking as ready: Caution mutliple phenotypes:

AD phenotype Neurodevelopmental disorder with visual defects and brain anomalies MIM#618547 caused by recurrent variants likely causing gain-of-function c.1370C>T, c.1334C>T, c.1240G>A
(PMID: 38617198)

AR HMSNR Founder variant in the Roma, -3818-195G-C, AltT2 EXON in 5'UTR identified in multiple families.
Prepair 1000+ v1.322 RBM10 Andrew Coventry reviewed gene: RBM10: Rating: GREEN; Mode of pathogenicity: None; Publications: 20451169 24259342 30450804 30189253 33340101; Phenotypes: TARP syndrome MIM#311900; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.322 PQBP1 Andrew Coventry reviewed gene: PQBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31840929 14634649 20410308 19661183; Phenotypes: Renpenning syndrome MIM#309500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.322 OCRL Andrew Coventry reviewed gene: OCRL: Rating: GREEN; Mode of pathogenicity: None; Publications: 9199559 15627218 27625797; Phenotypes: Dent disease 2 MIM#300555, Lowe syndrome MIM#309000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.304 ABCD1 Crystle Lee reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35983253; Phenotypes: Adrenoleukodystrophy, MIM#300100; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.304 ERCC2 Ee Ming Wong changed review comment from: - Bi-allelic inactivation of XPD protein, a nucleotide excision repair (NER) signaling pathway component encoded by ERCC2 gene, has been associated with several defective DNA repair phenotypes, including xeroderma pigmentosum, photosensitive trichothiodystrophy, and cerebro-oculo-facio-skeletal syndrome.
- Severe, early onset of all three phenotypes have been reported
- Variable expressivity has been reported for Xeroderma pigmentosum, group D, MIM# 278730 where individuals can present with or without mild or severe neurologic abnormalities (GeneReviews)
- OMIM: The location of variants (mutagenic pattern) is consistent in determining the phenotype. Variants shared by both phenotypes are functionally null alleles, and the second / compound heterozygous variant then determines the phenotype. Changes at p.Arg683 are clearly associated with XP, whereas p.Arg112His, p.Arg722Trp, and changes at p.Arg658 are associated with TTD.; to: - Bi-allelic inactivation of XPD protein, a nucleotide excision repair (NER) signaling pathway component encoded by ERCC2 gene, has been associated with several defective DNA repair phenotypes, including xeroderma pigmentosum, photosensitive trichothiodystrophy, and cerebro-oculo-facio-skeletal syndrome.
- Severe, early onset of all three phenotypes have been reported
- Variable expressivity has been reported for Xeroderma pigmentosum, group D, MIM# 278730 where individuals can present with or without mild or severe neurologic abnormalities (GeneReviews)
- OMIM: The location of variants (mutagenic pattern) is consistent in determining the phenotype. Variants shared by both phenotypes are functionally null alleles, and the second / compound heterozygous variant then determines the phenotype. Changes at p.Arg683 are clearly associated with XP, whereas p.Arg112His, p.Arg722Trp, and changes at p.Arg658 are associated with TTD.
Prepair 1000+ v1.287 AP1S2 Lauren Rogers reviewed gene: AP1S2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30714330, 23756445, 17186471; Phenotypes: Pettigrew syndrome, MIM# 304340; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.287 NYX Andrew Coventry reviewed gene: NYX: Rating: GREEN; Mode of pathogenicity: None; Publications: 11062471 11062472 16670814 23714322 34064005 34165036 12506099 11062471 17004930; Phenotypes: Night blindness, congenital stationary (complete), 1A, X-linked MIM310500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.287 LRP5 Andrew Coventry reviewed gene: LRP5: Rating: GREEN; Mode of pathogenicity: None; Publications: 9056564 9831343 11719191 15346351 18602879; Phenotypes: Exudative vitreoretinopathy 4 MIM#601813, Osteoporosis-pseudoglioma syndrome MIM#259770; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Prepair 1000+ v1.248 GLA Shakira Heerah reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: None; Publications: 17224688, 29649853, 26937390, 20301469; Phenotypes: Fabry disease, 301500, (3); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.229 AFF2 Zornitza Stark reviewed gene: AFF2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual disability, X-linked, FRAXE type 309548; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.229 DYSF Marta Cifuentes Ochoa commented on gene: DYSF: Miyoshi myopathy (MM) is the most common form of recessive distal myopathy in populations with founder mutations such as Libyan and Israeli Jewish population, Italian and Spanish populations.The typical age of onset of MM lies between 15 and 30 years

Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed.

Myopathy, distal, with anterior tibial onset is a rare genetic neuromuscular disease with characteristics of a progressive muscle weakness starting in the anterior tibial muscles, later involving lower and upper limb muscles, associated with an increased serum creatine kinase levels and absence of dysferlin on muscle biopsy. Patients become wheelchair dependent.

HGNC approved symbol/name: DYSF
Is the phenotype(s) severe and onset <18yo ? ? chidhood, early adulthood to late onset
Known technical challenges? N but large‐scale copy number variants have been identified.
Gene reported in >3 independent families

Unsure due genotype/phenotype correlation and onset
Prepair 1000+ v1.187 CHM Marta Cifuentes Ochoa reviewed gene: CHM: Rating: AMBER; Mode of pathogenicity: None; Publications: 31021898, 27506488, 27820636, 33110609; Phenotypes: Choroideremia MIM#303100, MONDO:0010557; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.168 FANCB Lucy Spencer reviewed gene: FANCB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anaemia, complementation group B, MIM#300514; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.159 BTK Marta Cifuentes Ochoa reviewed gene: BTK: Rating: GREEN; Mode of pathogenicity: None; Publications: 8013627, 7849697, 31481959, 15024743, 34182127, 16951917; Phenotypes: Agammaglobulinemia, X-linked 1 MIM#300755, Bruton-type agammaglobulinemia MONDO:0010421, Isolated growth hormone deficiency, type III, with agammaglobulinemia MIM#307200 MONDO:0010615; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.159 HBA2 Andrew Coventry changed review comment from: Well established and strong gene-disease association. Alpha-thalassemia result in anaemias from early childhood when fetal haemoglobin expression is diminished. Haemoglobinopathies of alpha-globin can result from variants at either of the 2 alpha-globin loci, HBA1 or HBA2.

Subtypes:
Haemoglobin H disease is a subtype of alpha-thalassemia:
Deletional' Hb H disease is caused by the combination of alpha(0)-thalassemia with deletional alpha(+)-thalassemia.
Deletional Haemoglobin H - phenotypic variability ranging from asymptomatic, to needing periodic transfusions, to severe anaemia with haemolysis and hepatosplenomegaly, to fatal hydrops fetalis in utero. Variable age of onset and features - see PMID: 21345100

'Nondeletional' Hb H disease is caused by an alpha(0)-thalassemia plus an alpha(+)-thalassemia point mutation or small insertion/deletion. Disease phenotype is usually are greater levels of anaemia, more symptomatic, more likely to have significant hepatosplenomegaly, and greater likelihood to require transfusions.

Note: Deletions are well known and frequent cause of these alpha thalassemia phenotypes and subtypes. Diverse range of non-deletional HBA2 variants also described. Possible technological challenge due to deletions which are prevalent.; to: Well established gene-disease association. The alpha-thalassemia phenotype ranges from asymptomatic to lethal. The severity of the disorder is usually well correlated with the number of non-functional copies of the alpha-globin genes (HBA1/HBA2). Gene function can be lost by deletion, or by SNVs (total loss or partial).The clinically relevant forms of alpha-thalassemia usually involve alpha(0)-thalassemia, either coinherited with alpha(+)-thalassemia and resulting in HbH disease, or inherited from both parents and resulting in haemoglobin Bart hydrops fetalis.

Note: Deletions are well known and frequent cause of these alpha thalassemia phenotypes and subtypes. Diverse range of non-deletional HBA2 variants also described. Possible technological challenge due to deletions which are prevalent.
Prepair 1000+ v1.139 USP9X Lilian Downie Mode of inheritance for gene: USP9X was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.138 USP9X Lilian Downie Mode of inheritance for gene: USP9X 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)
Prepair 1000+ v1.82 ATP7A Karina Sandoval reviewed gene: ATP7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 20170900, 33137485, 31969342, 31558336, 7842019, 8981948; Phenotypes: Menkes disease(MIM#309400), Occipital horn syndrome(MIM#304150); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.82 DCX Andrew Coventry reviewed gene: DCX: Rating: GREEN; Mode of pathogenicity: None; Publications: 10915612 9489699 12552055 20301364 14625554; Phenotypes: Lissencephaly, X-linked MIM#300067, Subcortical laminal heterotopia, X-linked MIM#300067; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.65 PIGA Lauren Rogers reviewed gene: PIGA: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM#300868, Neurodevelopmental disorder with epilepsy and hemochromatosis, MIM#301072; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.65 CLCN4 Andrew Coventry reviewed gene: CLCN4: Rating: GREEN; Mode of pathogenicity: None; Publications: 27550844 33951195 25644381 34479510 37409888; 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)
Prepair 1000+ v1.65 BCAP31 Andrew Coventry reviewed gene: BCAP31: Rating: GREEN; Mode of pathogenicity: None; Publications: 24011989 33603160 32681719; Phenotypes: Deafness, dystonia, and cerebral hypomyelination MIM#300475, Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome MONDO:0010334; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.65 ABCC8 Andrew Coventry reviewed gene: ABCC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 17919176 1950816 21716120 38791571 36034573; Phenotypes: Diabetes mellitus, permanent neonatal 3, with or without neurologic features MIM#618857, Hyperinsulinemic hypoglycemia, familial, 1 MIM#256450; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Prepair 1000+ v1.65 CLCNKB Lucy Spencer changed review comment from: Is the phenotype(s) severe and onset <18yo? YES. CLCNKB mutations cause Bartter syndrome type 3 also called classic Bartter syndrome with renal salt wasting, hypokalemia, metabolic alkalosis, polyuria, polydipsia, and failure to thrive. It typically manifests in early childhood but late childhood or adulthood onset cases have been reported. Classic Bartter syndrome has a heterogeneous presentation from severe to very mild (PMIDs: 25810436, 24965226)

There is also a digenic inheritance known for this gene with variants in CLCNKA causing Bartter syndrome type 4b.; to: Is the phenotype(s) severe and onset <18yo? YES. CLCNKB mutations cause Bartter syndrome type 3 also called classic Bartter syndrome with renal salt wasting, hypokalemia, metabolic alkalosis, polyuria, polydipsia, and failure to thrive. It typically manifests in early childhood but late childhood or adulthood onset cases have been reported. Classic Bartter syndrome has a heterogeneous presentation from severe to very mild (PMIDs: 25810436, 24965226)

There is also a digenic inheritance known for this gene with variants in CLCNKA causing Bartter syndrome type 4b.
Prepair 1000+ v1.9 ARHGEF9 Kate Scarff reviewed gene: ARHGEF9: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31942680, 30048823, 29130122, 28620718; Phenotypes: Developmental and epileptic encephalopathy 8, MIM# 300607; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.9 ATRX Andrew Coventry reviewed gene: ATRX: Rating: GREEN; Mode of pathogenicity: None; Publications: 16813605, 16955409, 15350606, 23681356; Phenotypes: Alpha thalassemia X-linked intellectual disability syndrome MONDO:0010519; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.9 IL2RG Lauren Rogers reviewed gene: IL2RG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Severe combined immunodeficiency, X-linked MIM# 300400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.7 AFF2 Lauren Rogers reviewed gene: AFF2: Rating: AMBER; Mode of pathogenicity: None; Publications: 35431806, 8334699, 21739600, 22773736; Phenotypes: Intellectual disability, X-linked, FRAXE type 309548; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.7 ABCB7 Andrew Coventry reviewed gene: ABCB7: Rating: GREEN; Mode of pathogenicity: None; Publications: 10196363, 33157103, 31772327, 31511561, 26242992, 34354969, 22398176; Phenotypes: Anaemia, sideroblastic, with ataxia MIM# 301310; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.7 ABCB7 Andrew Coventry reviewed gene: ABCB7: Rating: ; Mode of pathogenicity: None; Publications: 10196363, 33157103, 31772327, 31511561, 26242992, 34354969, 22398176; Phenotypes: Anaemia, sideroblastic, with ataxia MIM# 301310; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.7 AIFM1 Karina Sandoval reviewed gene: AIFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20362274, 22019070, 26173962, 31523922, 31783324, 28299359, 25934856, 28842795, 28842795; Phenotypes: Combined oxidative phosphorylation deficiency 6, 300816, Cowchock syndrome, 310490, Deafness, X-linked 5, 300614, Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, 300232; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.4 PIEZO1 Crystle Lee gene: PIEZO1 was added
gene: PIEZO1 was added to Prepair 1000+. Sources: Literature
Mode of inheritance for gene: PIEZO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIEZO1 were set to PMID: 26333996
Phenotypes for gene: PIEZO1 were set to Lymphatic malformation 6, MIM#616843
Review for gene: PIEZO1 was set to GREEN
Added comment: Biallelic mutations in PIEZO1 reported in 10 patients from 6 families with generalized lymphatic dysplasia (GLD) This is characterized by a uniform, widespread lymphedema affecting all segments of the body, with systemic involvement such as intestinal and/or pulmonary lymphangiectasia, pleural effusions, chylothoraces and/or pericardial effusions.
Sources: Literature
Prepair 1000+ v1.3 MUT Seb Lunke Added phenotypes Methylmalonic aciduria, mut(0) type, 251000 (3) for gene: MUT
Prepair 1000+ v1.0 NLGN4X Zornitza Stark reviewed gene: NLGN4X: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.195 PCDH19 Zornitza Stark Mode of inheritance for gene: PCDH19 was changed from Other to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v0.193 PCDH19 Zornitza Stark reviewed gene: PCDH19: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 9 (MIM#300088); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v0.188 GJB1 Zornitza Stark Mode of inheritance for gene: GJB1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.185 GJB1 Zornitza Stark edited their review of gene: GJB1: Added comment: Childhood onset, motor disability can be severe.; Changed rating: GREEN; Changed phenotypes: Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM# 302800; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.180 F9 Zornitza Stark reviewed gene: F9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Haemophilia B (MIM#306900); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.157 RS1 Zornitza Stark reviewed gene: RS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinoschisis (MIM#312700); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.155 RPGR Crystle Lee reviewed gene: RPGR: Rating: AMBER; Mode of pathogenicity: None; Publications: 12657579, 30193314; Phenotypes: Retinitis pigmentosa 3 (MIM#300029); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v0.155 MEFV Zornitza Stark Mode of inheritance for gene: MEFV was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.149 G6PD Zornitza Stark Mode of inheritance for gene: G6PD was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.147 G6PD Zornitza Stark reviewed gene: G6PD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Haemolytic anaemia, G6PD deficient (favism) (MIM#300908); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.136 RPL10 Zornitza Stark reviewed gene: RPL10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, X-linked, syndromic, 35, MIM300998; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.133 PGK1 Zornitza Stark reviewed gene: PGK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Phosphoglycerate kinase 1 deficiency (MIM#300653); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.131 PDHA1 Zornitza Stark reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pyruvate dehydrogenase E1-alpha deficiency (MIM#312170); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.121 GK Zornitza Stark edited their review of gene: GK: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.119 PCDH19 Crystle Lee gene: PCDH19 was added
gene: PCDH19 was added to Reproductive Carrier Screen_VCGS. Sources: Literature
Mode of inheritance for gene: PCDH19 was set to Other
Publications for gene: PCDH19 were set to 18469813; 30287595
Phenotypes for gene: PCDH19 were set to Developmental and epileptic encephalopathy 9 (MIM#300088)
Review for gene: PCDH19 was set to AMBER
Added comment: XLD. Affects heterozygous females, hemizygous males are mainly unaffected
> 3 unrelated families with phenotype, > 3 de novo mutation carriers with phenotype
Evidence of mosaicism and incomplete penetrance
Sources: Literature
Prepair 1000+ v0.116 EFNB1 Zornitza Stark reviewed gene: EFNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniofrontonasal dysplasia (MIM#304110); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.110 CHM Zornitza Stark reviewed gene: CHM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Choroideremia (MIM#303100); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.97 BGN Zornitza Stark reviewed gene: BGN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Meester-Loeys syndrome (MIM#300989), Spondyloepimetaphyseal dysplasia, X-linked (MIM#300106); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.85 WNT10A Crystle Lee gene: WNT10A was added
gene: WNT10A was added to Reproductive Carrier Screen_VCGS. Sources: Literature
Mode of inheritance for gene: WNT10A was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: WNT10A were set to 19559398; 30426266
Phenotypes for gene: WNT10A were set to Odontoonychodermal dysplasia 257980 AR; Schopf-Schulz-Passarge syndrome 224750 AR; Tooth agenesis, selective, 4 150400 AR, AD
Penetrance for gene: WNT10A were set to Incomplete
Review for gene: WNT10A was set to RED
Added comment: Well established gene disease association.

Genotype-phenotype correlation is unclear. The same variant has been associated with all 3 phenotypes and both AR and AD inheritance. Variable expressivity, however milder phenotypes seem to be associated with AD (PMID: 19559398; 30426266)
Sources: Literature
Prepair 1000+ v0.85 SLC26A4 Crystle Lee gene: SLC26A4 was added
gene: SLC26A4 was added to Reproductive Carrier Screen_VCGS. Sources: Literature
Mode of inheritance for gene: SLC26A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC26A4 were set to 24599119
Phenotypes for gene: SLC26A4 were set to Deafness, autosomal recessive 4, with enlarged vestibular aqueduct (MIM#600791); Pendred syndrome (MIM#274600)
Review for gene: SLC26A4 was set to AMBER
Added comment: PDS and NSEVA are considered a disease spectrum and are distinguishable based on the presence of thyroid dysfunction in PDS (GeneReviews).

In relation to severity of hearing, there's no correlation between missense vs PTCs. There was great variation in hearing loss severity with the same mutations. Phenotype cannot be predicted from the genotype (PMID: 24599119)
Sources: Literature
Prepair 1000+ v0.85 RS1 Crystle Lee gene: RS1 was added
gene: RS1 was added to Reproductive Carrier Screen_VCGS. Sources: Literature
Mode of inheritance for gene: RS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: RS1 were set to 15932525; 23453514; 23847049
Phenotypes for gene: RS1 were set to Retinoschisis (MIM#312700)
Review for gene: RS1 was set to AMBER
Added comment: - This gene is known to be associated with X-linked recessive disease, however, some affected females have been reported (OMIM).
- May not clinically manifest until middle life (OMIM)
- Many PTCs and missense reported. All result in same XLRS phenotype (although expression can be variable). Also a knockout mouse with similar phenotype.
- PTCs and missense involving cysteines tend to result in a more severe phenotype, whereas other missense can vary widely in severity (PMID: 23847049).
Sources: Literature
Prepair 1000+ v0.85 MEFV Crystle Lee gene: MEFV was added
gene: MEFV was added to Reproductive Carrier Screen_VCGS. Sources: Literature
Mode of inheritance for gene: MEFV was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: MEFV were set to Familial Mediterranean fever, AR (MIM#249100)
Penetrance for gene: MEFV were set to Incomplete
Review for gene: MEFV was set to AMBER
Added comment: Well established association. Predominantly bi-allelic, though a limited range of heterozygous variants have been associated with disease.
Sources: Literature
Prepair 1000+ v0.61 GJB2 Crystle Lee gene: GJB2 was added
gene: GJB2 was added to Reproductive Carrier Screen_VCGS. Sources: Literature
Mode of inheritance for gene: GJB2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: GJB2 were set to Bart-Pumphrey syndrome, MIM#149200; Deafness, autosomal dominant 3A, MIM#601544; Deafness, autosomal recessive 1A, MIM#220290; Hystrix-like ichthyosis with deafness, MIM#602540; Keratitis-ichthyosis-deafness syndrome, MIM#148210; Keratoderma, palmoplantar, with deafness, MIM#148350; Vohwinkel syndrome, MIM# 124500
Review for gene: GJB2 was set to AMBER
Added comment: Well established gene disease association. AR deafness MIM#220290 is associated with biallelic variants or digenic dominant with large deletion in GJB6
Sources: Literature
Prepair 1000+ v0.61 GJB1 Crystle Lee gene: GJB1 was added
gene: GJB1 was added to Reproductive Carrier Screen_VCGS. Sources: Literature
Mode of inheritance for gene: GJB1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: GJB1 were set to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 (MIM#302800)
Review for gene: GJB1 was set to AMBER
Added comment: CMTX has both demyelinating and axonal features. Well established gene-disease association, over 100 families reported. Variable phenotype with incomplete penetrance (OMIM)

PMID 31842800: Three unrelated males with GJB1 variants and recurrent episodes of reversible posterior leukoencephalopathy reported.
Sources: Literature
Prepair 1000+ v0.61 G6PD Crystle Lee gene: G6PD was added
gene: G6PD was added to Reproductive Carrier Screen_VCGS. Sources: Literature
Mode of inheritance for gene: G6PD was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: G6PD were set to Hemolytic anemia, G6PD deficient (favism) (MIM#300908)
Review for gene: G6PD was set to AMBER
Added comment: Well established gene disease association. Most G6PD-deficient patients are asymptomatic throughout their life, but G6PD deficiency can be life-threatening

Note: OMIM states this is XLD, however it is males that a repeatedly reported affected and just carrier females; females are affected when HOMOZYGOUS, meaning this is primarily an XLR condition
Sources: Literature
Prepair 1000+ v0.61 F11 Crystle Lee gene: F11 was added
gene: F11 was added to Reproductive Carrier Screen_VCGS. Sources: Literature
Mode of inheritance for gene: F11 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: F11 were set to 18446632; 15026311; 27723456
Phenotypes for gene: F11 were set to Factor XI deficiency, autosomal dominant (MIM#612416); Factor XI deficiency, autosomal recessive, (MIM#612416)
Review for gene: F11 was set to AMBER
Added comment: Recessive cases are more severe than heterozygous carriers, who may be asymptomatic despite having FXI deficiency (PMID:18446632). Dominant negative missense tend to have dominant inheritance patterns (PMID:15026311), while PTCs are generally recessive, though symptomatic carriers have been reported (OMIM).

PMID: 27723456 - "Bleeding due to FXI deficiency is variable and does not correlate with the plasma FXI level or FXI coagulant activity1"
Sources: Literature
Prepair 1000+ v0.61 CYP19A1 Crystle Lee gene: CYP19A1 was added
gene: CYP19A1 was added to Reproductive Carrier Screen_VCGS. Sources: Literature
Mode of inheritance for gene: CYP19A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP19A1 were set to 29553041; 17164303; 25264451
Phenotypes for gene: CYP19A1 were set to Aromatase deficiency (MIM#613546)
Review for gene: CYP19A1 was set to AMBER
Added comment: Aromatase deficiency is a rare disease characterized by a decrease in estrogen synthesis. Clinical characteristics of patients with aromatase deficiency vary depending on gender, age and enzymatic activity

CYP19A1 loss-of-function because of biallelic mutations leads to aromatase deficiency, whereas CYP19A1 overexpression because of genomic rearrangements results in aromatase excess syndrome (https://doi.org/10.1016/j.coemr.2020.03.002)
Sources: Literature
Prepair 1000+ v0.61 LMNA Crystle Lee reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: None; Publications: 18551513, 15148145, 17377071; Phenotypes: Emery-Dreifuss muscular dystrophy 3, autosomal recessive (MIM#616516), Mandibuloacral dysplasia (MIM#248370); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Prepair 1000+ v0.61 GLA Crystle Lee reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: None; Publications: 29649853, 20301469; Phenotypes: Fabry disease (MIM#301500); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v0.58 BGN Crystle Lee reviewed gene: BGN: Rating: AMBER; Mode of pathogenicity: None; Publications: 27632686, 17502576, 27236923; Phenotypes: Meester-Loeys syndrome (MIM#300989), Spondyloepimetaphyseal dysplasia, X-linked (MIM#300106); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.58 PGK1 Crystle Lee reviewed gene: PGK1: Rating: ; Mode of pathogenicity: None; Publications: 16567715, 30887539, 22348148, 28580215; Phenotypes: Phosphoglycerate kinase 1 deficiency (MIM#300653); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.50 IKBKG Zornitza Stark reviewed gene: IKBKG: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.50 MPZ Crystle Lee reviewed gene: MPZ: Rating: AMBER; Mode of pathogenicity: None; Publications: 30239779, 8816708, 12845552, 16488608, 26310628, 8630052; Phenotypes: Charcot-Marie-Tooth disease, dominant intermediate D (MIM#607791), Charcot-Marie-Tooth disease, type 1B (MIM#118200), Charcot-Marie-Tooth disease, type 2I (MIM#607677), Charcot-Marie-Tooth disease, type 2J (MIM#607736), Dejerine-Sottas disease (MIM#145900), Hypomyelinating neuropathy, congenital, 2 (MIM#618184), Roussy-Levy syndrome (MIM#180800); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Prepair 1000+ v0.50 UBA1 Crystle Lee reviewed gene: UBA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18179898, 32181232, 31932168, 29034082, 23518311, 26028276; Phenotypes: Spinal muscular atrophy, X-linked 2, infantile (MIM#301830); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.50 CHM Crystle Lee reviewed gene: CHM: Rating: AMBER; Mode of pathogenicity: None; Publications: 33110609, 27820636; Phenotypes: Choroideremia (MIM#303100); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v0.50 PROC Crystle Lee reviewed gene: PROC: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombophilia 3 due to protein C deficiency, autosomal recessive (MIM#612304), Thrombophilia 3 due to protein C deficiency, autosomal dominant (MIM#176860); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Prepair 1000+ v0.50 PROC Crystle Lee reviewed gene: PROC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombophilia 3 due to protein C deficiency, autosomal recessive (MIM#612304), Thrombophilia 3 due to protein C deficiency, autosomal dominant (MIM#176860); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Prepair 1000+ v0.50 IKBKG Crystle Lee reviewed gene: IKBKG: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Ectodermal dysplasia and immunodeficiency 1, MIM# 300291, Immunodeficiency 33 , MIM#300636, Incontinentia pigmenti, MIM# 308300, Autoinflammatory disease, systemic, X-linked, MIM# 301081; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.49 RYR1 Crystle Lee reviewed gene: RYR1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Central core disease (MIM#117000), Minicore myopathy with external ophthalmoplegia (MIM#255320), Neuromuscular disease, congenital, with uniform type 1 fiber (MIM#117000); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Prepair 1000+ v0.49 F5 Crystle Lee reviewed gene: F5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Factor V deficiency (MIM#227400); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.49 F9 Crystle Lee reviewed gene: F9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemophilia B (MIM#306900); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.49 PDHA1 Crystle Lee reviewed gene: PDHA1: Rating: AMBER; Mode of pathogenicity: None; Publications: 28584645, 22142326; Phenotypes: Pyruvate dehydrogenase E1-alpha deficiency (MIM#312170); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v0.40 TTN Crystle Lee reviewed gene: TTN: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1G (MIM#604145), Cardiomyopathy, familial hypertrophic, 9 (MIM#613765), Muscular dystrophy, limb-girdle, autosomal recessive 10 (MIM#608807), Myopathy, myofibrillar, 9, with early respiratory failure (MIM#603689), Salih myopathy (MIM#611705), Tibial muscular dystrophy, tardive (MIM#600334); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Prepair 1000+ v0.40 VWF Crystle Lee reviewed gene: VWF: Rating: AMBER; Mode of pathogenicity: Other; Publications: ; Phenotypes: von Willebrand disease, type 1 (MIM#193400), von Willebrand disease, type 3 (MIM#277480), von Willebrand disease, types 2A, 2B, 2M, and 2N (MIM#613554); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Prepair 1000+ v0.40 EFNB1 Crystle Lee reviewed gene: EFNB1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniofrontonasal dysplasia (MIM#304110); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v0.40 TNFRSF13B Crystle Lee reviewed gene: TNFRSF13B: Rating: RED; Mode of pathogenicity: None; Publications: 31681265; Phenotypes: Immunodeficiency, common variable, 2 (MIM#240500); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Prepair 1000+ v0.40 RPL10 Crystle Lee reviewed gene: RPL10: Rating: AMBER; Mode of pathogenicity: None; Publications: 25316788, 26290468, 25846674, 29066376; Phenotypes: Intellectual developmental disorder, X-linked, syndromic, 35, MIM300998; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.40 F8 Crystle Lee reviewed gene: F8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemophilia A (MIM#306700); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.32 TSPAN7 Zornitza Stark reviewed gene: TSPAN7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.0 NLGN4X Crystle Lee reviewed gene: NLGN4X: Rating: RED; Mode of pathogenicity: None; Publications: 12669065, 18231125, 10071191, 29428674; Phenotypes: Intellectual developmental disorder, X-linked (MIM#300495); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.0 TBX22 Zornitza Stark gene: TBX22 was added
gene: TBX22 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review,Expert Review Red
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
Prepair 1000+ v0.0 OPN1LW Zornitza Stark gene: OPN1LW was added
gene: OPN1LW was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Red
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, MIM#303700; Colorblindness, protan, MIM#303900
Prepair 1000+ v0.0 BCAP31 Zornitza Stark gene: BCAP31 was added
gene: BCAP31 was added to Reproductive Carrier Screen_VCGS. 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 31330203; 24011989; 33603160
Phenotypes for gene: BCAP31 were set to Deafness, dystonia, and cerebral hypomyelination, MIM# 300475
Prepair 1000+ v0.0 AFF2 Zornitza Stark gene: AFF2 was added
gene: AFF2 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review,Expert Review Red
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
Prepair 1000+ v0.0 RPL10 Zornitza Stark gene: RPL10 was added
gene: RPL10 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review Amber,Mackenzie's Mission
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 (MIM#300998)
Prepair 1000+ v0.0 POLA1 Zornitza Stark gene: POLA1 was added
gene: POLA1 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review Amber,Mackenzie's Mission
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, MIM#301220; Van Esch-O'Driscoll syndrome, MIM #301030
Prepair 1000+ v0.0 ZNF711 Zornitza Stark gene: ZNF711 was added
gene: ZNF711 was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 ZIC3 Zornitza Stark gene: ZIC3 was added
gene: ZIC3 was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 ZDHHC9 Zornitza Stark gene: ZDHHC9 was added
gene: ZDHHC9 was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 ZC4H2 Zornitza Stark gene: ZC4H2 was added
gene: ZC4H2 was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 XIAP Zornitza Stark gene: XIAP was added
gene: XIAP was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 WAS Zornitza Stark gene: WAS was added
gene: WAS was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 VMA21 Zornitza Stark gene: VMA21 was added
gene: VMA21 was added to Reproductive Carrier Screen_VCGS. 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
Prepair 1000+ v0.0 USP9X Zornitza Stark gene: USP9X was added
gene: USP9X was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 UPF3B Zornitza Stark gene: UPF3B was added
gene: UPF3B was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 UBE2A Zornitza Stark gene: UBE2A was added
gene: UBE2A was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 UBA1 Zornitza Stark gene: UBA1 was added
gene: UBA1 was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 TSPAN7 Zornitza Stark gene: TSPAN7 was added
gene: TSPAN7 was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 TIMM8A Zornitza Stark gene: TIMM8A was added
gene: TIMM8A was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 THOC2 Zornitza Stark gene: THOC2 was added
gene: THOC2 was added to Reproductive Carrier Screen_VCGS. 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
Prepair 1000+ v0.0 TAZ Zornitza Stark gene: TAZ was added
gene: TAZ was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 SYP Zornitza Stark gene: SYP was added
gene: SYP was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 SYN1 Zornitza Stark gene: SYN1 was added
gene: SYN1 was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 SSR4 Zornitza Stark gene: SSR4 was added
gene: SSR4 was added to Reproductive Carrier Screen_VCGS. 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
Prepair 1000+ v0.0 SMS Zornitza Stark gene: SMS was added
gene: SMS was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 SLC9A6 Zornitza Stark gene: SLC9A6 was added
gene: SLC9A6 was added to Reproductive Carrier Screen_VCGS. 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
Prepair 1000+ v0.0 SLC6A8 Zornitza Stark gene: SLC6A8 was added
gene: SLC6A8 was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 SLC16A2 Zornitza Stark gene: SLC16A2 was added
gene: SLC16A2 was added to Reproductive Carrier Screen_VCGS. 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
Prepair 1000+ v0.0 SH2D1A Zornitza Stark gene: SH2D1A was added
gene: SH2D1A was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 RPS6KA3 Zornitza Stark gene: RPS6KA3 was added
gene: RPS6KA3 was added to Reproductive Carrier Screen_VCGS. 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
Prepair 1000+ v0.0 RPGR Zornitza Stark gene: RPGR was added
gene: RPGR was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 RP2 Zornitza Stark gene: RP2 was added
gene: RP2 was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 RLIM Zornitza Stark gene: RLIM was added
gene: RLIM was added to Reproductive Carrier Screen_VCGS. 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
Prepair 1000+ v0.0 RBM10 Zornitza Stark gene: RBM10 was added
gene: RBM10 was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 RAB39B Zornitza Stark gene: RAB39B was added
gene: RAB39B was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 PRPS1 Zornitza Stark gene: PRPS1 was added
gene: PRPS1 was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 PQBP1 Zornitza Stark gene: PQBP1 was added
gene: PQBP1 was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 PLP1 Zornitza Stark gene: PLP1 was added
gene: PLP1 was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 PIH1D3 Zornitza Stark gene: PIH1D3 was added
gene: PIH1D3 was added to Reproductive Carrier Screen_VCGS. 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
Prepair 1000+ v0.0 PIGA Zornitza Stark gene: PIGA was added
gene: PIGA was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 PHF8 Zornitza Stark gene: PHF8 was added
gene: PHF8 was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 PHF6 Zornitza Stark gene: PHF6 was added
gene: PHF6 was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 PGK1 Zornitza Stark gene: PGK1 was added
gene: PGK1 was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 PDHA1 Zornitza Stark gene: PDHA1 was added
gene: PDHA1 was added to Reproductive Carrier Screen_VCGS. 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
Prepair 1000+ v0.0 PAK3 Zornitza Stark gene: PAK3 was added
gene: PAK3 was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 OTC Zornitza Stark gene: OTC was added
gene: OTC was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 OPHN1 Zornitza Stark gene: OPHN1 was added
gene: OPHN1 was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 OFD1 Zornitza Stark gene: OFD1 was added
gene: OFD1 was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 OCRL Zornitza Stark gene: OCRL was added
gene: OCRL was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 NYX Zornitza Stark gene: NYX was added
gene: NYX was added to Reproductive Carrier Screen_VCGS. 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, MIM #310500
Prepair 1000+ v0.0 NSDHL Zornitza Stark gene: NSDHL was added
gene: NSDHL was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 NR0B1 Zornitza Stark gene: NR0B1 was added
gene: NR0B1 was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 NLGN4X Zornitza Stark gene: NLGN4X was added
gene: NLGN4X was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 NHS Zornitza Stark gene: NHS was added
gene: NHS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NHS was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: NHS were set to Cataract 40, X-linked, 302200 (3)
Prepair 1000+ v0.0 NEXMIF Zornitza Stark gene: NEXMIF was added
gene: NEXMIF was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NEXMIF was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: NEXMIF were set to Mental retardation, X-linked 98, MIM #300912
Prepair 1000+ v0.0 NDUFA1 Zornitza Stark gene: NDUFA1 was added
gene: NDUFA1 was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 NDP Zornitza Stark gene: NDP was added
gene: NDP was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 NAA10 Zornitza Stark gene: NAA10 was added
gene: NAA10 was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 MUT Zornitza Stark gene: MUT was added
gene: MUT was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 MTM1 Zornitza Stark gene: MTM1 was added
gene: MTM1 was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 MID1 Zornitza Stark gene: MID1 was added
gene: MID1 was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 MED12 Zornitza Stark gene: MED12 was added
gene: MED12 was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 MECP2 Zornitza Stark gene: MECP2 was added
gene: MECP2 was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 MBTPS2 Zornitza Stark gene: MBTPS2 was added
gene: MBTPS2 was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 MAOA Zornitza Stark gene: MAOA was added
gene: MAOA was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 L1CAM Zornitza Stark gene: L1CAM was added
gene: L1CAM was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 KDM5C Zornitza Stark gene: KDM5C was added
gene: KDM5C was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 IQSEC2 Zornitza Stark gene: IQSEC2 was added
gene: IQSEC2 was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 IL2RG Zornitza Stark gene: IL2RG was added
gene: IL2RG was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 IL1RAPL1 Zornitza Stark gene: IL1RAPL1 was added
gene: IL1RAPL1 was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 IKBKG Zornitza Stark gene: IKBKG was added
gene: IKBKG was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 IDS Zornitza Stark gene: IDS was added
gene: IDS was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 HUWE1 Zornitza Stark gene: HUWE1 was added
gene: HUWE1 was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 HSD17B10 Zornitza Stark gene: HSD17B10 was added
gene: HSD17B10 was added to Reproductive Carrier Screen_VCGS. 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
Prepair 1000+ v0.0 HPRT1 Zornitza Stark gene: HPRT1 was added
gene: HPRT1 was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 HCFC1 Zornitza Stark gene: HCFC1 was added
gene: HCFC1 was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 GPR143 Zornitza Stark gene: GPR143 was added
gene: GPR143 was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 GPC3 Zornitza Stark gene: GPC3 was added
gene: GPC3 was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 GLA Zornitza Stark gene: GLA was added
gene: GLA was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 GK Zornitza Stark gene: GK was added
gene: GK was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 GDI1 Zornitza Stark gene: GDI1 was added
gene: GDI1 was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 FTSJ1 Zornitza Stark gene: FTSJ1 was added
gene: FTSJ1 was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 FOXP3 Zornitza Stark gene: FOXP3 was added
gene: FOXP3 was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 FMR1 Zornitza Stark gene: FMR1 was added
gene: FMR1 was added to Reproductive Carrier Screen_VCGS. 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
Prepair 1000+ v0.0 FLNA Zornitza Stark gene: FLNA was added
gene: FLNA was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 FHL1 Zornitza Stark gene: FHL1 was added
gene: FHL1 was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 FANCB Zornitza Stark gene: FANCB was added
gene: FANCB was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 F9 Zornitza Stark gene: F9 was added
gene: F9 was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 F8 Zornitza Stark gene: F8 was added
gene: F8 was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 EMD Zornitza Stark gene: EMD was added
gene: EMD was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 EIF2S3 Zornitza Stark gene: EIF2S3 was added
gene: EIF2S3 was added to Reproductive Carrier Screen_VCGS. 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
Prepair 1000+ v0.0 EFNB1 Zornitza Stark gene: EFNB1 was added
gene: EFNB1 was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 EDA Zornitza Stark gene: EDA was added
gene: EDA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EDA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: EDA were set to Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100 (3)
Prepair 1000+ v0.0 DMD Zornitza Stark gene: DMD was added
gene: DMD was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 DLG3 Zornitza Stark gene: DLG3 was added
gene: DLG3 was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 DKC1 Zornitza Stark gene: DKC1 was added
gene: DKC1 was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 DCX Zornitza Stark gene: DCX was added
gene: DCX was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 CYBB Zornitza Stark gene: CYBB was added
gene: CYBB was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 CUL4B Zornitza Stark gene: CUL4B was added
gene: CUL4B was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 COL4A5 Zornitza Stark gene: COL4A5 was added
gene: COL4A5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL4A5 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: COL4A5 were set to Alport syndrome 1, X-linked
Prepair 1000+ v0.0 CLCN5 Zornitza Stark gene: CLCN5 was added
gene: CLCN5 was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 CLCN4 Zornitza Stark gene: CLCN4 was added
gene: CLCN4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLCN4 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: CLCN4 were set to 27550844
Phenotypes for gene: CLCN4 were set to Raynaud-Claes syndrome, MIM #300114
Prepair 1000+ v0.0 CHM Zornitza Stark gene: CHM was added
gene: CHM was added to Reproductive Carrier Screen_VCGS. 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
Prepair 1000+ v0.0 CFP Zornitza Stark gene: CFP was added
gene: CFP was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 CD40LG Zornitza Stark gene: CD40LG was added
gene: CD40LG was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 CASK Zornitza Stark gene: CASK was added
gene: CASK was added to Reproductive Carrier Screen_VCGS. 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
Prepair 1000+ v0.0 BTK Zornitza Stark gene: BTK was added
gene: BTK was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 BRWD3 Zornitza Stark gene: BRWD3 was added
gene: BRWD3 was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 BGN Zornitza Stark gene: BGN was added
gene: BGN was added to Reproductive Carrier Screen_VCGS. 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
Prepair 1000+ v0.0 ATRX Zornitza Stark gene: ATRX was added
gene: ATRX was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 ATP7A Zornitza Stark gene: ATP7A was added
gene: ATP7A was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 ATP6AP1 Zornitza Stark gene: ATP6AP1 was added
gene: ATP6AP1 was added to Reproductive Carrier Screen_VCGS. 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
Prepair 1000+ v0.0 ARX Zornitza Stark gene: ARX was added
gene: ARX was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 ARHGEF9 Zornitza Stark gene: ARHGEF9 was added
gene: ARHGEF9 was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 AP1S2 Zornitza Stark gene: AP1S2 was added
gene: AP1S2 was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 AIFM1 Zornitza Stark gene: AIFM1 was added
gene: AIFM1 was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 ABCD1 Zornitza Stark gene: ABCD1 was added
gene: ABCD1 was added to Reproductive Carrier Screen_VCGS. 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)
Prepair 1000+ v0.0 ABCB7 Zornitza Stark gene: ABCB7 was added
gene: ABCB7 was added to Reproductive Carrier Screen_VCGS. 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)