PanelApp

Activity

Filter

Cancel
Date Panel Item Activity
1153 actions
Mendeliome v0.1533 TAF2 Zornitza Stark Phenotypes for gene: TAF2 were changed from to Mental retardation, autosomal recessive 40, MIM# 615599
Mendeliome v0.1529 TAF2 Zornitza Stark reviewed gene: TAF2: Rating: AMBER; Mode of pathogenicity: None; Publications: 21937992, 22633631, 26350204; Phenotypes: Mental retardation, autosomal recessive 40, MIM# 615599; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1529 TAF13 Zornitza Stark Marked gene: TAF13 as ready
Mendeliome v0.1529 TAF13 Zornitza Stark Phenotypes for gene: TAF13 were changed from to Mental retardation, autosomal recessive 60, MIM# 617432
Mendeliome v0.1525 TAF13 Zornitza Stark reviewed gene: TAF13: Rating: AMBER; Mode of pathogenicity: None; Publications: 28257693; Phenotypes: Mental retardation, autosomal recessive 60, MIM# 617432; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1525 SYT14 Zornitza Stark Marked gene: SYT14 as ready
Mendeliome v0.1525 SYT14 Zornitza Stark Phenotypes for gene: SYT14 were changed from to Spinocerebellar ataxia, autosomal recessive 11, MIM# 614229
Mendeliome v0.1521 SYT14 Zornitza Stark reviewed gene: SYT14: Rating: RED; Mode of pathogenicity: None; Publications: 21835308; Phenotypes: Spinocerebellar ataxia, autosomal recessive 11, MIM# 614229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1521 SRPX2 Zornitza Stark Marked gene: SRPX2 as ready
Mendeliome v0.1521 SRPX2 Zornitza Stark Phenotypes for gene: SRPX2 were changed from to Rolandic epilepsy, mental retardation, and speech dyspraxia, MIM# 300643
Mendeliome v0.1517 SRPX2 Zornitza Stark reviewed gene: SRPX2: Rating: RED; Mode of pathogenicity: None; Publications: 16497722, 23933820, 23871722; Phenotypes: Rolandic epilepsy, mental retardation, and speech dyspraxia, MIM# 300643; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1517 SPRTN Zornitza Stark Marked gene: SPRTN as ready
Mendeliome v0.1514 MC4R Zornitza Stark Marked gene: MC4R as ready
Mendeliome v0.1514 MC4R Zornitza Stark Phenotypes for gene: MC4R were changed from to {Obesity, resistence to (BMIQ20)} 618306; Obesity (BMIQ20) 618406 AD, AR
Mendeliome v0.1511 KMT2A Zornitza Stark Marked gene: KMT2A as ready
Mendeliome v0.1508 RBM20 Zornitza Stark Marked gene: RBM20 as ready
Mendeliome v0.1508 RBM20 Zornitza Stark Phenotypes for gene: RBM20 were changed from to Cardiomyopathy, dilated, 1DD 613172 AD
Mendeliome v0.1505 RBM20 Zornitza Stark reviewed gene: RBM20: Rating: GREEN; Mode of pathogenicity: None; Publications: 30871351; Phenotypes: Cardiomyopathy, dilated, 1DD 613172 AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1505 SLC52A1 Zornitza Stark Marked gene: SLC52A1 as ready
Mendeliome v0.1505 SLC52A1 Zornitza Stark Added comment: Comment when marking as ready: Essentially only one family.
Mendeliome v0.1505 SLC52A1 Zornitza Stark Marked gene: SLC52A1 as ready
Mendeliome v0.1500 PTCH2 Zornitza Stark Marked gene: PTCH2 as ready
Mendeliome v0.1500 PTCH2 Zornitza Stark Phenotypes for gene: PTCH2 were changed from to Basal cell carcinoma, somatic 605462; Basal cell nevus syndrome, 109400; Medulloblastoma, somatic
Mendeliome v0.1496 ZNF592 Chern Lim changed review comment from: No patients reported with ZNF592 variant that is clearly disease causing.

A 2010 paper published a biallelic missense variant segregating in one family with non-progressive, autosomal recessive, congenital cerebellar ataxia; however functional data not strongly supportive of pathogenicity (PMID: 20531441). Same authors later identified a homozygous WDR73 variant in that family which explains the phenotype (PMID: 26123727).; to: No patients reported with ZNF592 variant that is clearly disease causing.

A 2010 paper published a biallelic missense variant segregating in one family with non-progressive, autosomal recessive, congenital cerebellar ataxia; however functional data not strongly conclusive for pathogenicity (PMID: 20531441). Same authors later identified a homozygous WDR73 variant in that family which explains the phenotype (PMID: 26123727).
Mendeliome v0.1496 COL2A1 Zornitza Stark Marked gene: COL2A1 as ready
Mendeliome v0.1496 COL2A1 Zornitza Stark Phenotypes for gene: COL2A1 were changed from to Achondrogenesis, type II or hypochondrogenesis 200610; Avascular necrosis of the femoral head 608805; Czech dysplasia 609162; Epiphyseal dysplasia, multiple, with myopia and deafness 132450; Kniest dysplasia 156550; Legg-Calve-Perthes disease 150600; Osteoarthritis with mild chondrodysplasia 604864; Platyspondylic skeletal dysplasia, Torrance type 151210; SED congenita 183900; SMED Strudwick type 184250; Spondyloepiphyseal dysplasia, Stanescu type 616583; Spondyloperipheral dysplasia 271700; Stickler sydrome, type I, nonsyndromic ocular 609508; Stickler syndrome, type I 108300; Vitreoretinopathy with phalangeal epiphyseal dysplasia
Mendeliome v0.1493 DNMT1 Zornitza Stark Marked gene: DNMT1 as ready
Mendeliome v0.1493 DNMT1 Zornitza Stark Phenotypes for gene: DNMT1 were changed from to Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121; Neuropathy, hereditary sensory, type IE, 614116
Mendeliome v0.1490 CEP135 Zornitza Stark Marked gene: CEP135 as ready
Mendeliome v0.1490 CEP135 Zornitza Stark Phenotypes for gene: CEP135 were changed from to Microcephalic primordial dwarfism; Microcephaly 8, primary, autosomal recessive, 614673
Mendeliome v0.1487 CYP21A2 Zornitza Stark Marked gene: CYP21A2 as ready
Mendeliome v0.1487 CYP21A2 Zornitza Stark Added comment: Comment when marking as ready: Beware pseudogene and structural variants make NGS data difficult to interpret.
Mendeliome v0.1485 CDK13 Zornitza Stark Marked gene: CDK13 as ready
Mendeliome v0.1485 CDK13 Zornitza Stark Phenotypes for gene: CDK13 were changed from to Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, MIM#617360
Mendeliome v0.1482 CDK13 Zornitza Stark reviewed gene: CDK13: Rating: GREEN; Mode of pathogenicity: None; Publications: 29021403, 29393965, 30904094; Phenotypes: Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, MIM#617360; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1482 F13B Zornitza Stark Marked gene: F13B as ready
Mendeliome v0.1479 FMO3 Zornitza Stark changed review comment from: Comment when marking as ready: Inborn error of metabolism accompanied by fish-like body odor resulting from deficiency of dimethylglycine dehydrogenase; to: Comment when marking as ready: Inborn error of metabolism accompanied by fish-like body odour resulting from deficiency of dimethylglycine dehydrogenase
Mendeliome v0.1479 FMO3 Zornitza Stark Marked gene: FMO3 as ready
Mendeliome v0.1479 FMO3 Zornitza Stark Added comment: Comment when marking as ready: Inborn error of metabolism accompanied by fish-like body odor resulting from deficiency of dimethylglycine dehydrogenase
Mendeliome v0.1476 PNPLA6 Zornitza Stark Marked gene: PNPLA6 as ready
Mendeliome v0.1476 PNPLA6 Zornitza Stark Phenotypes for gene: PNPLA6 were changed from to Boucher-Neuhauser syndrome, 215470; ?Laurence-Moon syndrome, 245800; Oliver-McFarlane syndrome, 275400; Spastic paraplegia 39, autosomal recessive, 612020
Mendeliome v0.1473 MC4R Michelle Torres reviewed gene: MC4R: Rating: GREEN; Mode of pathogenicity: None; Publications: 29970488; Phenotypes: {Obesity, resistence to (BMIQ20)} 618306, Obesity (BMIQ20) 618406 AD, AR; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.1473 PTCH2 Kristin Rigbye reviewed gene: PTCH2: Rating: RED; Mode of pathogenicity: None; Publications: 30820324; Phenotypes: Basal cell carcinoma, somatic 605462, Basal cell nevus syndrome, 109400, Medulloblastoma, somatic; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1473 COL2A1 Elena Savva reviewed gene: COL2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 15895462, 17721977, 27234559, 20179744; Phenotypes: Achondrogenesis, type II or hypochondrogenesis 200610, Avascular necrosis of the femoral head 608805, Czech dysplasia 609162, Epiphyseal dysplasia, multiple, with myopia and deafness 132450, Kniest dysplasia 156550, Legg-Calve-Perthes disease 150600, Osteoarthritis with mild chondrodysplasia 604864, Platyspondylic skeletal dysplasia, Torrance type 151210, SED congenita 183900, SMED Strudwick type 184250, Spondyloepiphyseal dysplasia, Stanescu type 616583, Spondyloperipheral dysplasia 271700, Stickler sydrome, type I, nonsyndromic ocular 609508, Stickler syndrome, type I 108300, Vitreoretinopathy with phalangeal epiphyseal dysplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.1473 DNMT1 Elena Savva reviewed gene: DNMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22328086, 21532572; Phenotypes: Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121, Neuropathy, hereditary sensory, type IE, 614116; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1473 CEP135 Elena Savva reviewed gene: CEP135: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30214071, 22521416; Phenotypes: Microcephalic primordial dwarfism, Microcephaly 8, primary, autosomal recessive, 614673; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1473 CEP135 Elena Savva changed review comment from: Microcephalic primordial dwarfism - single case

Incomplete NMD shown, LOF mechanism; to: Microcephalic primordial dwarfism - single case

Incomplete NMD shown, LOF mechanism
Mendeliome v0.1473 CEP135 Elena Savva reviewed gene: CEP135: Rating: ; Mode of pathogenicity: None; Publications: PMID: 30214071, 22521416; Phenotypes: Microcephalic primordial dwarfism, Microcephaly 8, primary, autosomal recessive, 614673; Mode of inheritance: None
Mendeliome v0.1473 PNPLA6 Elena Savva reviewed gene: PNPLA6: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25480986, 24355708; Phenotypes: Boucher-Neuhauser syndrome, 215470, ?Laurence-Moon syndrome, 245800, Oliver-McFarlane syndrome, 275400, Spastic paraplegia 39, autosomal recessive, 612020; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1473 CEP85L Zornitza Stark gene: CEP85L was added
gene: CEP85L was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CEP85L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CEP85L were set to 32097630
Phenotypes for gene: CEP85L were set to Lissencephaly, posterior predominant
Review for gene: CEP85L was set to GREEN
Added comment: Thirteen individuals reported with mono allelic variants in this gene, inherited in two of the families. Mouse model had neuronal migration defects.
Sources: Literature
Mendeliome v0.1471 COX4I2 Zornitza Stark edited their review of gene: COX4I2: Added comment: Glu138Lys present in 3 homozygotes in gnomad, wich is out of keeping for this rare metabolic disorder. Note no other variants reported in this gene since original report in 2009. All variants submitted to ClinVar are VOUS/LB/B.; Changed rating: RED
Mendeliome v0.1471 SOBP Zornitza Stark Marked gene: SOBP as ready
Mendeliome v0.1471 SOBP Zornitza Stark Phenotypes for gene: SOBP were changed from to Mental retardation, anterior maxillary protrusion, and strabismus, MIM# 613671
Mendeliome v0.1467 SOBP Zornitza Stark reviewed gene: SOBP: Rating: RED; Mode of pathogenicity: None; Publications: 21035105; Phenotypes: Mental retardation, anterior maxillary protrusion, and strabismus, MIM# 613671; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1467 SNIP1 Zornitza Stark Marked gene: SNIP1 as ready
Mendeliome v0.1467 SNIP1 Zornitza Stark Phenotypes for gene: SNIP1 were changed from to Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501
Mendeliome v0.1463 SNIP1 Zornitza Stark reviewed gene: SNIP1: Rating: RED; Mode of pathogenicity: None; Publications: 22279524; Phenotypes: Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1463 SMG9 Zornitza Stark Marked gene: SMG9 as ready
Mendeliome v0.1463 SMG9 Zornitza Stark Phenotypes for gene: SMG9 were changed from to Heart and brain malformation syndrome, MIM# 616920
Mendeliome v0.1460 SMG9 Zornitza Stark reviewed gene: SMG9: Rating: GREEN; Mode of pathogenicity: None; Publications: 27018474, 31390136; Phenotypes: Heart and brain malformation syndrome, MIM# 616920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1460 TMPRSS3 Zornitza Stark Marked gene: TMPRSS3 as ready
Mendeliome v0.1457 POU3F4 Zornitza Stark Marked gene: POU3F4 as ready
Mendeliome v0.1454 SLIT2 Zornitza Stark Marked gene: SLIT2 as ready
Mendeliome v0.1450 CEL Zornitza Stark Marked gene: CEL as ready
Mendeliome v0.1446 WDR81 Zornitza Stark Marked gene: WDR81 as ready
Mendeliome v0.1446 WDR81 Zornitza Stark Phenotypes for gene: WDR81 were changed from to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185; Hydrocephalus, congenital, 3, with brain anomalies, 617967
Mendeliome v0.1443 ARSG Zornitza Stark Marked gene: ARSG as ready
Mendeliome v0.1443 ARSG Zornitza Stark Gene: arsg has been classified as Red List (Low Evidence).
Mendeliome v0.1443 ARSG Zornitza Stark gene: ARSG was added
gene: ARSG was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: ARSG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARSG were set to 29300381; 20679209; 25452429; 26975023
Phenotypes for gene: ARSG were set to Usher syndrome, type IV, MIM# 618144
Review for gene: ARSG was set to RED
Added comment: Atypical late-onset RP/HL phenotype described in 5 individuals from three Yemenite Jewish families. Same homozygous missense variant identified in all, founder effect. Animal models associated with neuronal ceroid lipofuscinosis.
Sources: Expert list
Mendeliome v0.1442 OTOF Zornitza Stark Marked gene: OTOF as ready
Mendeliome v0.1437 FXR1 Bryony Thompson Added comment: Comment on list classification: Only two families, but a lot of functional supporting evidence including a mouse model. Pathogenic variants likely to be found in exon 15 of the skeletal muscle isoform, specifically.
Mendeliome v0.1435 WDR81 Kristin Rigbye changed review comment from: A homozygous and compound heterozygous nonsense and missense variants reported. Variants shown to result in a loss of function (PMID: 28969387).; to: Homozygous and compound heterozygous nonsense and missense variants reported. Variants shown to result in a loss of function (PMID: 28969387).
Mendeliome v0.1435 WDR81 Kristin Rigbye changed review comment from: A few homozygous families reported to date. Variants are expected to results in a loss of function, although functional studies have not been performed.; to: A homozygous and compound heterozygous nonsense and missense variants reported. Variants shown to result in a loss of function (PMID: 28969387).
Mendeliome v0.1435 WDR81 Kristin Rigbye reviewed gene: WDR81: Rating: GREEN; Mode of pathogenicity: None; Publications: 21885617, 28556411; Phenotypes: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185, Hydrocephalus, congenital, 3, with brain anomalies, 617967; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1435 TBCE Zornitza Stark Marked gene: TBCE as ready
Mendeliome v0.1435 TBCE Zornitza Stark Phenotypes for gene: TBCE were changed from to Encephalopathy, progressive, with amyotrophy and optic atrophy; Hypoparathyroidism-retardation-dysmorphism syndrome; Kenny-Caffey syndrome, type 1
Mendeliome v0.1432 HTRA1 Zornitza Stark Marked gene: HTRA1 as ready
Mendeliome v0.1432 HTRA1 Zornitza Stark Phenotypes for gene: HTRA1 were changed from to {Macular degeneration, age-related, 7}, 6101493; {Macular degeneration, age-related, neovascular type}, 610149; CARASIL syndrome, 600142; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779
Mendeliome v0.1428 PLPBP Zornitza Stark Marked gene: PLPBP as ready
Mendeliome v0.1428 PLPBP Zornitza Stark Phenotypes for gene: PLPBP were changed from to Epilepsy, early-onset, vitamin B6-dependent, 617290
Mendeliome v0.1425 PTPN11 Zornitza Stark Marked gene: PTPN11 as ready
Mendeliome v0.1425 PTPN11 Zornitza Stark Phenotypes for gene: PTPN11 were changed from to LEOPARD syndrome 1 (MIM#151100); Noonan syndrome 1 (MIM#163950); Metachondromatosis (MIM#156250)
Mendeliome v0.1421 SYNE1 Zornitza Stark Marked gene: SYNE1 as ready
Mendeliome v0.1421 SYNE1 Zornitza Stark Phenotypes for gene: SYNE1 were changed from to Arthrogryposis multiplex congenita, myogenic type, MIM# 618484; Emery-Dreifuss muscular dystrophy 4, autosomal dominant, MIM# 612998; Spinocerebellar ataxia, autosomal recessive 8, MIM# 610743
Mendeliome v0.1418 SYNE1 Zornitza Stark edited their review of gene: SYNE1: Added comment: Well established gene-disease association with Emery-Dreifuss muscular dystrophy (AD), and with recessive ataxia.
Distal arthrogryposis: three families reported with bi-allelic distal truncating variants in the KASH domain. This appears to be a specific genotype-phenotype correlation.; Changed rating: GREEN; Changed publications: 23352163, 27782104; Changed phenotypes: Arthrogryposis multiplex congenita, myogenic type, MIM# 618484, Emery-Dreifuss muscular dystrophy 4, autosomal dominant, MIM# 612998, Spinocerebellar ataxia, autosomal recessive 8, MIM# 610743; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1418 PNPT1 Zornitza Stark Marked gene: PNPT1 as ready
Mendeliome v0.1418 PNPT1 Zornitza Stark Added comment: Comment when marking as ready: Those initially presenting with deafness may be at risk of progressive complex neurological course.
Mendeliome v0.1418 PNPT1 Zornitza Stark Marked gene: PNPT1 as ready
Mendeliome v0.1415 TBCE Elena Savva reviewed gene: TBCE: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27666369; Phenotypes: Encephalopathy, progressive, with amyotrophy and optic atrophy, Hypoparathyroidism-retardation-dysmorphism syndrome, Kenny-Caffey syndrome, type 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1415 HTRA1 Elena Savva reviewed gene: HTRA1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 29895533, 19387015; Phenotypes: {Macular degeneration, age-related, 7}, 6101493, {Macular degeneration, age-related, neovascular type}, 610149, CARASIL syndrome, 600142, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.1415 PLPBP Elena Savva reviewed gene: PLPBP: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29689137, 27912044; Phenotypes: Epilepsy, early-onset, vitamin B6-dependent, 617290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.1415 PTPN11 Crystle Lee reviewed gene: PTPN11: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 24935154, 11704759, 21533187; Phenotypes: LEOPARD syndrome 1 (MIM#151100), Noonan syndrome 1 (MIM#163950), Metachondromatosis (MIM#156250); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1415 SYNE1 Crystle Lee reviewed gene: SYNE1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30573412; Phenotypes: Spinocerebellar ataxia, autosomal recessive 8 (MIM#610743); Mode of inheritance: None
Mendeliome v0.1415 MPP3 Zornitza Stark Marked gene: MPP3 as ready
Mendeliome v0.1414 GLRX Zornitza Stark Marked gene: GLRX as ready
Mendeliome v0.1413 GC Zornitza Stark Marked gene: GC as ready
Mendeliome v0.1412 AANAT Zornitza Stark Marked gene: AANAT as ready
Mendeliome v0.1408 DUX4 Zornitza Stark Marked gene: DUX4 as ready
Mendeliome v0.1408 DUX4 Zornitza Stark Phenotypes for gene: DUX4 were changed from to Fascioscapulohumeral muscular dystrophy, MIM#158900
Mendeliome v0.1405 DUX4 Zornitza Stark reviewed gene: DUX4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Fascioscapulohumeral muscular dystrophy, MIM#158900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1405 SLC6A4 Zornitza Stark Marked gene: SLC6A4 as ready
Mendeliome v0.1401 TREX1 Zornitza Stark Marked gene: TREX1 as ready
Mendeliome v0.1401 TREX1 Zornitza Stark Phenotypes for gene: TREX1 were changed from to Aicardi-Goutieres syndrome 1, dominant and recessive; Chilblain lupus; {Systemic lupus erythematosus, susceptibility to}; Vasculopathy, retinal, with cerebral leukodystrophy
Mendeliome v0.1398 HGSNAT Zornitza Stark Marked gene: HGSNAT as ready
Mendeliome v0.1398 HGSNAT Zornitza Stark Phenotypes for gene: HGSNAT were changed from to Mucopolysaccharidosis type IIIC (Sanfilippo C) (MIM #252930); Retinitis pigmentosa 73 (MIM # 616544)
Mendeliome v0.1395 PNKP Zornitza Stark Marked gene: PNKP as ready
Mendeliome v0.1392 DNAH5 Zornitza Stark Marked gene: DNAH5 as ready
Mendeliome v0.1392 DNAH5 Zornitza Stark Phenotypes for gene: DNAH5 were changed from to Ciliary dyskinesia, primary, 3, with or without situs inversus (MIM #608644)
Mendeliome v0.1389 CDH23 Zornitza Stark Marked gene: CDH23 as ready
Mendeliome v0.1386 TREX1 Kristin Rigbye reviewed gene: TREX1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21937424; Phenotypes: Aicardi-Goutieres syndrome 1, dominant and recessive, Chilblain lupus, {Systemic lupus erythematosus, susceptibility to}, Vasculopathy, retinal, with cerebral leukodystrophy; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.1386 HGSNAT Ain Roesley reviewed gene: HGSNAT: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19479962, 31228227, 20825431, 20583299; Phenotypes: Mucopolysaccharidosis type IIIC (Sanfilippo C) (MIM #252930), Retinitis pigmentosa 73 (MIM # 616544); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1386 DNAH5 Ain Roesley reviewed gene: DNAH5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 16627867; Phenotypes: Ciliary dyskinesia, primary, 3, with or without situs inversus (MIM #608644); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1386 SHROOM4 Zornitza Stark Marked gene: SHROOM4 as ready
Mendeliome v0.1386 SHROOM4 Zornitza Stark Phenotypes for gene: SHROOM4 were changed from to Stocco dos Santos X-linked mental retardation syndrome, 300434; Intellectual disability
Mendeliome v0.1382 SHROOM4 Zornitza Stark reviewed gene: SHROOM4: Rating: AMBER; Mode of pathogenicity: None; Publications: 16249884, 26740508; Phenotypes: Stocco dos Santos X-linked mental retardation syndrome, 300434, Intellectual disability; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1382 F2 Zornitza Stark Marked gene: F2 as ready
Mendeliome v0.1382 F2 Zornitza Stark Phenotypes for gene: F2 were changed from to {Pregnancy loss, recurrent, susceptibility to, 2} 614390 AD; {Stroke, ischemic, susceptibility to} 601367 Mu; Dysprothrombinemia 613679 AR; Hypoprothrombinemia 613679 AR; Thrombophilia due to thrombin defect 188050 AD
Mendeliome v0.1379 F2 Zornitza Stark reviewed gene: F2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30297698; Phenotypes: {Pregnancy loss, recurrent, susceptibility to, 2} 614390 AD, {Stroke, ischemic, susceptibility to} 601367 Mu, Dysprothrombinemia 613679 AR, Hypoprothrombinemia 613679 AR, Thrombophilia due to thrombin defect 188050 AD; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1379 CHD2 Zornitza Stark Marked gene: CHD2 as ready
Mendeliome v0.1377 INTS1 Zornitza Stark Marked gene: INTS1 as ready
Mendeliome v0.1377 INTS1 Zornitza Stark Phenotypes for gene: INTS1 were changed from to Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, MIM# 618571
Mendeliome v0.1374 INTS1 Zornitza Stark reviewed gene: INTS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28542170, 30622326, 31428919; Phenotypes: Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, MIM# 618571; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1374 UGT1A4 Zornitza Stark Marked gene: UGT1A4 as ready
Mendeliome v0.1374 UGT1A4 Zornitza Stark Added comment: Comment when marking as ready: Agree, no evidence currently for Mendelian gene-disease association.
Mendeliome v0.1373 SOX3 Zornitza Stark Phenotypes for gene: SOX3 were changed from Mental retardation, X-linked, with isolated growth hormone deficiency, MIM#300123; Panhypopituitarism, X-linked, MIM#312000 to Mental retardation, X-linked, with isolated growth hormone deficiency, MIM#300123; Panhypopituitarism, X-linked, MIM#312000; XX male sex reversal
Mendeliome v0.1372 SOX3 Zornitza Stark edited their review of gene: SOX3: Changed phenotypes: Mental retardation, X-linked, with isolated growth hormone deficiency, MIM#300123, Panhypopituitarism, X-linked, MIM#312000, XX male sex reversal
Mendeliome v0.1372 SOX3 Zornitza Stark Marked gene: SOX3 as ready
Mendeliome v0.1372 SOX3 Zornitza Stark Phenotypes for gene: SOX3 were changed from to Mental retardation, X-linked, with isolated growth hormone deficiency, MIM#300123; Panhypopituitarism, X-linked, MIM#312000
Mendeliome v0.1368 SOX3 Zornitza Stark reviewed gene: SOX3: Rating: AMBER; Mode of pathogenicity: None; Publications: 29175558, 30125608, 12428212, 15800844; Phenotypes: Mental retardation, X-linked, with isolated growth hormone deficiency, MIM#300123, Panhypopituitarism, X-linked, MIM#312000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1368 AKT1 Zornitza Stark Marked gene: AKT1 as ready
Mendeliome v0.1365 AKT1 Zornitza Stark Mode of pathogenicity for gene: AKT1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mendeliome v0.1363 PEX6 Zornitza Stark Marked gene: PEX6 as ready
Mendeliome v0.1361 PUF60 Zornitza Stark Marked gene: PUF60 as ready
Mendeliome v0.1359 ATRX Zornitza Stark Marked gene: ATRX as ready
Mendeliome v0.1359 ATRX Zornitza Stark Phenotypes for gene: ATRX were changed from to Alpha-thalassemia/mental retardation syndrome; Mental retardation-hypotonic facies syndrome, X-linked
Mendeliome v0.1357 AKT1 Elena Savva reviewed gene: AKT1: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 23246288; Phenotypes: Cowden syndrome 6, Proteus syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.1357 ATRX Elena Savva reviewed gene: ATRX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alpha-thalassemia myelodysplasia syndrome, somatic, Alpha-thalassemia/mental retardation syndrome, Mental retardation-hypotonic facies syndrome, X-linked; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.1357 PTRHD1 Zornitza Stark Marked gene: PTRHD1 as ready
Mendeliome v0.1356 PTRHD1 Zornitza Stark gene: PTRHD1 was added
gene: PTRHD1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: PTRHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTRHD1 were set to 30398675; 27134041; 27753167; 29143421
Phenotypes for gene: PTRHD1 were set to Parkinsonism; Intellectual disability
Review for gene: PTRHD1 was set to GREEN
Added comment: Three unrelated families reported: two with homozygous missense variants; and one with truncating variant. Affected individuals have juvenile-onset parkinsonism and ID.
Sources: Expert list
Mendeliome v0.1355 GFER Zornitza Stark Marked gene: GFER as ready
Mendeliome v0.1355 GFER Zornitza Stark Phenotypes for gene: GFER were changed from to Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay (MIM #613076)
Mendeliome v0.1352 KRT14 Zornitza Stark Marked gene: KRT14 as ready
Mendeliome v0.1352 KRT14 Zornitza Stark Phenotypes for gene: KRT14 were changed from to Epidermolysis bullosa simplex, recessive 1, 601001; Dermatopathia pigmentosa reticularis, 125595; Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Epidermolysis bullosa simplex, Koebner type, 131900; Epidermolysis bullosa simplex, Weber-Cockayne type, 131800; Naegeli-Franceschetti-Jadassohn syndrome, 161000
Mendeliome v0.1348 KRT14 Zornitza Stark reviewed gene: KRT14: Rating: GREEN; Mode of pathogenicity: None; Publications: 16960809, 18049449; Phenotypes: Epidermolysis bullosa simplex, recessive 1, 601001, Dermatopathia pigmentosa reticularis, 125595, Epidermolysis bullosa simplex, Dowling-Meara type, 131760, Epidermolysis bullosa simplex, Koebner type, 131900, Epidermolysis bullosa simplex, Weber-Cockayne type, 131800, Naegeli-Franceschetti-Jadassohn syndrome, 161000; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.1348 GFER Ain Roesley reviewed gene: GFER: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28155230; Phenotypes: Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay (MIM #613076); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1347 PITRM1 Zornitza Stark Marked gene: PITRM1 as ready
Mendeliome v0.1346 PITRM1 Zornitza Stark gene: PITRM1 was added
gene: PITRM1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: PITRM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PITRM1 were set to 26697887; 29764912; 29383861
Phenotypes for gene: PITRM1 were set to Ataxia; Intellectual disability
Review for gene: PITRM1 was set to GREEN
gene: PITRM1 was marked as current diagnostic
Added comment: Three unrelated families reported with bi-allelic variants in this gene.
Sources: Expert list
Mendeliome v0.1345 CSGALNACT1 Tiong Tan Marked gene: CSGALNACT1 as ready
Mendeliome v0.1343 UNC13A Zornitza Stark Marked gene: UNC13A as ready
Mendeliome v0.1339 TOR1AIP1 Bryony Thompson Added comment: Comment on list classification: Phenotype appears to be variable depending on which isoform is affected by the variants.
Mendeliome v0.1338 TOR1AIP1 Bryony Thompson gene: TOR1AIP1 was added
gene: TOR1AIP1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: TOR1AIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOR1AIP1 were set to 24856141; 31299614; 30723199; 27342937
Phenotypes for gene: TOR1AIP1 were set to Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures MIM#617072
Review for gene: TOR1AIP1 was set to GREEN
Added comment: At least 5 families/cases reported with muscular dystrophy and sometimes cardiomyopathy.
Sources: Expert list
Mendeliome v0.1337 EML1 Zornitza Stark Marked gene: EML1 as ready
Mendeliome v0.1334 ELMO2 Zornitza Stark Marked gene: ELMO2 as ready
Mendeliome v0.1333 ELMO2 Zornitza Stark gene: ELMO2 was added
gene: ELMO2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: ELMO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ELMO2 were set to 27476657
Phenotypes for gene: ELMO2 were set to Vascular malformation, primary intraosseous, MIM#606893
Review for gene: ELMO2 was set to GREEN
Added comment: Five unrelated families reported.
Sources: Expert list
Mendeliome v0.1332 HHIP Zornitza Stark Marked gene: HHIP as ready
Mendeliome v0.1330 FRA10AC1 Zornitza Stark Marked gene: FRA10AC1 as ready
Mendeliome v0.1328 MMP25 Zornitza Stark Marked gene: MMP25 as ready
Mendeliome v0.1327 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Mendeliome v0.1325 MAP3K20 Bryony Thompson gene: MAP3K20 was added
gene: MAP3K20 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: MAP3K20 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAP3K20 were set to 27816943; 26755636
Phenotypes for gene: MAP3K20 were set to Centronuclear myopathy 6 with fiber-type disproportion MIM#617760; Split-foot malformation with mesoaxial polydactyly MIM#616890
Review for gene: MAP3K20 was set to GREEN
Added comment: 3 unrelated consanguineous families homozygous for 3 different variants with centronuclear myopathy, and at least 2 families reported with split-foot malformation. Null mouse model is embryonic lethal due to severe cardiac edema and growth retardation. Gene alias of ZAK used in the published studies.
Sources: Expert list
Mendeliome v0.1324 PCDH10 Zornitza Stark Marked gene: PCDH10 as ready
Mendeliome v0.1320 LNPK Zornitza Stark Marked gene: LNPK as ready
Mendeliome v0.1316 KIF4A Zornitza Stark Marked gene: KIF4A as ready
Mendeliome v0.1316 KIF4A Zornitza Stark Phenotypes for gene: KIF4A were changed from to Mental retardation, X-linked 100, MIM# 300923
Mendeliome v0.1312 KIF4A Zornitza Stark reviewed gene: KIF4A: Rating: RED; Mode of pathogenicity: None; Publications: 24812067; Phenotypes: Mental retardation, X-linked 100, MIM# 300923; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1312 KCNK4 Zornitza Stark Marked gene: KCNK4 as ready
Mendeliome v0.1308 INTS8 Zornitza Stark Marked gene: INTS8 as ready
Mendeliome v0.1308 INTS8 Zornitza Stark Phenotypes for gene: INTS8 were changed from to Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, MIM# 618572
Mendeliome v0.1304 INTS8 Zornitza Stark reviewed gene: INTS8: Rating: RED; Mode of pathogenicity: None; Publications: 28542170; Phenotypes: Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, MIM# 618572; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1304 SCO2 Zornitza Stark Marked gene: SCO2 as ready
Mendeliome v0.1304 SCO2 Zornitza Stark Phenotypes for gene: SCO2 were changed from to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1; Myopia 6; Charcot-Marie-Tooth type 4; Cerebellar ataxia and progressive peripheral axonal neuropthy
Mendeliome v0.1301 IDUA Zornitza Stark Marked gene: IDUA as ready
Mendeliome v0.1301 IDUA Zornitza Stark Phenotypes for gene: IDUA were changed from to Mucopolysaccharidosis Ih (MIM#607014); Mucopolysaccharidosis Ih/s (MIM#607015); Mucopolysaccharidosis Is (MIM#6070)
Mendeliome v0.1298 AHI1 Zornitza Stark Marked gene: AHI1 as ready
Mendeliome v0.1295 TGM5 Zornitza Stark Marked gene: TGM5 as ready
Mendeliome v0.1292 PLEC Zornitza Stark Marked gene: PLEC as ready
Mendeliome v0.1292 PLEC Zornitza Stark Phenotypes for gene: PLEC were changed from to ?Epidermolysis bullosa simplex with nail dystrophy, MIM# 616487; Epidermolysis bullosa simplex with muscular dystrophy, MIM# 226670; Epidermolysis bullosa simplex with pyloric atresia, MIM# 612138; Epidermolysis bullosa simplex, Ogna type MIM#131950; Muscular dystrophy, limb-girdle, autosomal recessive 17, MIM# 613723
Mendeliome v0.1289 SCO2 Elena Savva reviewed gene: SCO2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31844624, 29351582, 26427993; Phenotypes: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, Myopia 6, Charcot-Marie-Tooth type 4, Cerebellar ataxia and progressive peripheral axonal neuropthy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1289 IDUA Crystle Lee reviewed gene: IDUA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28752568, 12865757; Phenotypes: Mucopolysaccharidosis Ih (MIM#607014), Mucopolysaccharidosis Ih/s (MIM#607015), Mucopolysaccharidosis Is (MIM#6070); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1289 PLEC Elena Savva reviewed gene: PLEC: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22144912; Phenotypes: ?Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex with muscular dystrophy, Epidermolysis bullosa simplex with pyloric atresia, Epidermolysis bullosa simplex, Ogna type, Muscular dystrophy, limb-girdle; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.1289 HSPG2 Zornitza Stark Marked gene: HSPG2 as ready
Mendeliome v0.1289 HSPG2 Zornitza Stark Phenotypes for gene: HSPG2 were changed from to Dyssegmental dysplasia, Silverman-Handmaker type; Schwartz-Jampel syndrome, type 1
Mendeliome v0.1286 BEST1 Zornitza Stark Marked gene: BEST1 as ready
Mendeliome v0.1285 WNT10A Elena Savva reviewed gene: WNT10A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19559398, 30426266; Phenotypes: Odontoonychodermal dysplasia, Schopf-Schulz-Passarge syndrome, Tooth agenesis, selective, 4; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.1284 BEST1 Zornitza Stark Phenotypes for gene: BEST1 were changed from to Bestrophinopathy, autosomal recessive, MIM# 611809; Macular dystrophy, vitelliform, 2 MIM# 153700; Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, MIM# 193220; Retinitis pigmentosa-50, MIM# 613194; Retinitis pigmentosa, concentric, MIM# 61319; Vitreoretinochoroidopathy,MIM# 193220
Mendeliome v0.1282 IGBP1 Zornitza Stark Marked gene: IGBP1 as ready
Mendeliome v0.1282 IGBP1 Zornitza Stark Phenotypes for gene: IGBP1 were changed from to Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, MIM# 300472
Mendeliome v0.1278 IGBP1 Zornitza Stark reviewed gene: IGBP1: Rating: RED; Mode of pathogenicity: None; Publications: 14556245; Phenotypes: Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, MIM# 300472; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1278 BEST1 Elena Savva reviewed gene: BEST1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29668979; Phenotypes: Bestrophinopathy, Macular dystrophy, vitelliform, 2, Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, Retinitis pigmentosa-50, Retinitis pigmentosa, concentric, Vitreoretinochoroidopathy; Mode of inheritance: None
Mendeliome v0.1278 HSPG2 Elena Savva reviewed gene: HSPG2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 16927315; Phenotypes: Dyssegmental dysplasia, Silverman-Handmaker type, Schwartz-Jampel syndrome, type 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1278 IQSEC2 Zornitza Stark Marked gene: IQSEC2 as ready
Mendeliome v0.1277 IQSEC2 Zornitza Stark Phenotypes for gene: IQSEC2 were changed from to Mental retardation, X-linked 1/78, MIM#309530
Mendeliome v0.1274 IQSEC2 Elena Savva reviewed gene: IQSEC2: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 31415821, 20473311, 30842726; Phenotypes: Mental retardation, X-linked 1/78; 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
Mendeliome v0.1274 GRIA1 Zornitza Stark Marked gene: GRIA1 as ready
Mendeliome v0.1273 GRIA1 Zornitza Stark gene: GRIA1 was added
gene: GRIA1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: GRIA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GRIA1 were set to 28628100; 23033978; 26350204; 24896178
Phenotypes for gene: GRIA1 were set to Intellectual disability; autism
Review for gene: GRIA1 was set to GREEN
Added comment: Multiple affected individuals reported but in large ID cohorts reporting multiple candidate genes. Recurrent (p.A636T) variant.
Sources: Expert list
Mendeliome v0.1272 RCC1L Zornitza Stark Marked gene: RCC1L as ready
Mendeliome v0.1271 HDAC4 Zornitza Stark changed review comment from: Comment when marking as ready: Contradictory evidence: deletions linked to brachydactyly-MR but note some individuals reported without MR. Only reports of intragenic variants (still structural rather than SNVs).; to: Comment when marking as ready: Contradictory evidence: deletions linked to brachydactyly-MR but note some individuals reported without MR. Only two reports of intragenic variants (still structural rather than SNVs).
Mendeliome v0.1271 HDAC4 Zornitza Stark Marked gene: HDAC4 as ready
Mendeliome v0.1271 HDAC4 Zornitza Stark Added comment: Comment when marking as ready: Contradictory evidence: deletions linked to brachydactyly-MR but note some individuals reported without MR. Only reports of intragenic variants (still structural rather than SNVs).
Mendeliome v0.1271 HDAC4 Zornitza Stark Phenotypes for gene: HDAC4 were changed from to Brachydactyly mental retardation syndrome; Brachydactyly without intellectual disability
Mendeliome v0.1266 UBR4 Zornitza Stark Marked gene: UBR4 as ready
Mendeliome v0.1262 HDAC4 Elena Savva reviewed gene: HDAC4: Rating: AMBER; Mode of pathogenicity: Other; Publications: PMID: 24715439, 20691407, 31209962; Phenotypes: Brachydactyly mental retardation syndrome, Brachydactyly without intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Mendeliome v0.1262 GMNN Zornitza Stark Marked gene: GMNN as ready
Mendeliome v0.1259 TRAPPC4 Zornitza Stark Marked gene: TRAPPC4 as ready
Mendeliome v0.1258 TRAPPC4 Zornitza Stark gene: TRAPPC4 was added
gene: TRAPPC4 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: TRAPPC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAPPC4 were set to 31794024
Phenotypes for gene: TRAPPC4 were set to intellectual disability; epilepsy; spasticity; microcephaly
Review for gene: TRAPPC4 was set to GREEN
Added comment: Seven individuals from three unrelated families reported; recurrent splice site variant (hg19:chr11:g.118890966A>G; TRAPPC4: NM_016146.5; c.454+3A>G), not a founder variant.
Sources: Expert Review
Mendeliome v0.1257 SNX27 Zornitza Stark Marked gene: SNX27 as ready
Mendeliome v0.1255 NSF Zornitza Stark Marked gene: NSF as ready
Mendeliome v0.1254 NSF Zornitza Stark gene: NSF was added
gene: NSF was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NSF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NSF were set to 31675180
Phenotypes for gene: NSF were set to Seizures; EEG with burst suppression; Global developmental delay; Intellectual disability
Review for gene: NSF was set to AMBER
Added comment: Two individuals reported with de novo missense variants in this gene.
Sources: Literature
Mendeliome v0.1253 KAT8 Zornitza Stark Marked gene: KAT8 as ready
Mendeliome v0.1252 KAT8 Zornitza Stark gene: KAT8 was added
gene: KAT8 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KAT8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KAT8 were set to 31794431
Phenotypes for gene: KAT8 were set to Intellectual disability; seizures; autism; dysmorphic features
Review for gene: KAT8 was set to GREEN
Added comment: Eight unrelated individuals reported with de novo variants in this gene and a mouse model. All variants missense, in the chromobarrel domain or the acetyltransferase domain; three individuals had the same variant p.Tyr90Cys . One more individual reported with bi-allelic variants: one missense and one frameshift; carrier parents were normal suggesting that may be haploinsuffiency is not the mechanism.
Sources: Literature
Mendeliome v0.1251 GABBR2 Zornitza Stark Marked gene: GABBR2 as ready
Mendeliome v0.1248 HNRNPU Zornitza Stark Marked gene: HNRNPU as ready
Mendeliome v0.1248 SERPINI1 Zornitza Stark Marked gene: SERPINI1 as ready
Mendeliome v0.1247 HNRNPU Zornitza Stark Phenotypes for gene: HNRNPU were changed from to Epileptic encephalopathy, early infantile, 54, MIM#617391
Mendeliome v0.1242 TTC7A Zornitza Stark Marked gene: TTC7A as ready
Mendeliome v0.1239 HNRNPU Crystle Lee reviewed gene: HNRNPU: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28944577, 28393272; Phenotypes: Epileptic encephalopathy, early infantile, 54 (MIM#617391); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.1239 OPA1 Zornitza Stark Marked gene: OPA1 as ready
Mendeliome v0.1239 OPA1 Zornitza Stark Phenotypes for gene: OPA1 were changed from to Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)MIM# 6168963; Behr syndrome MIM#210000, AR; Optic atrophy 1, MIM#165500; Optic atrophy plus syndrome, MIM# 125250
Mendeliome v0.1237 SASS6 Zornitza Stark Marked gene: SASS6 as ready
Mendeliome v0.1237 SASS6 Zornitza Stark Phenotypes for gene: SASS6 were changed from to Microcephaly 14, primary, autosomal recessive, MIM# 616402
Mendeliome v0.1233 SASS6 Zornitza Stark reviewed gene: SASS6: Rating: AMBER; Mode of pathogenicity: None; Publications: 24951542, 30639237; Phenotypes: Microcephaly 14, primary, autosomal recessive, MIM# 616402; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1233 ACTB Sebastian Lunke Marked gene: ACTB as ready
Mendeliome v0.1232 ACTB Sebastian Lunke Phenotypes for gene: ACTB were changed from to Baraitser-Winter syndrome 1 243310; ACTB-related neurodevelopment disorder
Mendeliome v0.1229 ELMOD2 Sebastian Lunke Marked gene: ELMOD2 as ready
Mendeliome v0.1227 GCKR Sebastian Lunke Marked gene: GCKR as ready
Mendeliome v0.1224 CNTN1 Zornitza Stark Marked gene: CNTN1 as ready
Mendeliome v0.1220 OPA1 Ee Ming Wong reviewed gene: OPA1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30165240; Phenotypes: 1. ?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type) 6168963, 2. {Glaucoma, normal tension, susceptibility to} 6066573, 3. Behr syndrome 210000 AR, 4. Optic atrophy 1 165500 AD, 5. Optic atrophy plus syndrome 125250 AD; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.1220 ACTB Melanie Marty reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29220674; Phenotypes: ?Dystonia, juvenile-onset 607371, Baraitser-Winter syndrome 1 243310, ACTB-related neurodevelopment disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.1220 NDUFA12 Zornitza Stark Phenotypes for gene: NDUFA12 were changed from to Mitochondrial complex I deficiency, nuclear type 23 618244
Mendeliome v0.1216 NDUFA12 Zornitza Stark reviewed gene: NDUFA12: Rating: RED; Mode of pathogenicity: None; Publications: 21617257; Phenotypes: Mitochondrial complex I deficiency, nuclear type 23 618244; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1216 MRPS7 Zornitza Stark Marked gene: MRPS7 as ready
Mendeliome v0.1212 MRPS23 Zornitza Stark Marked gene: MRPS23 as ready
Mendeliome v0.1208 MRPL12 Zornitza Stark Marked gene: MRPL12 as ready
Mendeliome v0.1206 MRPL12 Zornitza Stark Phenotypes for gene: MRPL12 were changed from to Growth retardation; neurological deterioration; mitochondrial translation deficiency
Mendeliome v0.1204 MRPL12 Zornitza Stark reviewed gene: MRPL12: Rating: RED; Mode of pathogenicity: None; Publications: 23603806; Phenotypes: Growth retardation, neurological deterioration, mitochondrial translation deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1204 LYRM4 Zornitza Stark Marked gene: LYRM4 as ready
Mendeliome v0.1200 COX8A Zornitza Stark Marked gene: COX8A as ready
Mendeliome v0.1196 COA5 Zornitza Stark Marked gene: COA5 as ready
Mendeliome v0.1196 COA5 Zornitza Stark Phenotypes for gene: COA5 were changed from to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, MIM# 616500
Mendeliome v0.1192 COA5 Zornitza Stark reviewed gene: COA5: Rating: RED; Mode of pathogenicity: None; Publications: 21457908; Phenotypes: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, MIM# 616500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1192 CLCN5 Zornitza Stark Marked gene: CLCN5 as ready
Mendeliome v0.1192 CLCN5 Zornitza Stark Phenotypes for gene: CLCN5 were changed from to Dent disease, MIM#300009; Hypophosphatemic rickets, MIM#300554; Nephrolithiasis, type I, MIM#310468; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, MIM#308990
Mendeliome v0.1190 CLCN5 Zornitza Stark reviewed gene: CLCN5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dent disease, MIM#300009, Hypophosphatemic rickets, MIM#300554, Nephrolithiasis, type I, MIM#310468, Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, MIM#308990; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1190 PHEX Zornitza Stark Marked gene: PHEX as ready
Mendeliome v0.1188 EHMT1 Zornitza Stark Marked gene: EHMT1 as ready
Mendeliome v0.1185 FIBP Zornitza Stark Marked gene: FIBP as ready
Mendeliome v0.1181 CHST8 Zornitza Stark Marked gene: CHST8 as ready
Mendeliome v0.1177 RASA2 Sebastian Lunke Marked gene: RASA2 as ready
Mendeliome v0.1175 TKFC Zornitza Stark Marked gene: TKFC as ready
Mendeliome v0.1174 TKFC Zornitza Stark gene: TKFC was added
gene: TKFC was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TKFC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TKFC were set to 32004446
Phenotypes for gene: TKFC were set to Developmental delay; cataracts; liver dysfunction
Review for gene: TKFC was set to AMBER
Added comment: Two unrelated individuals reported.
Sources: Literature
Mendeliome v0.1173 RALGAPA1 Zornitza Stark Marked gene: RALGAPA1 as ready
Mendeliome v0.1171 EPB41L1 Zornitza Stark Marked gene: EPB41L1 as ready
Mendeliome v0.1171 EPB41L1 Zornitza Stark Phenotypes for gene: EPB41L1 were changed from to Mental retardation, autosomal dominant 11, MIM# 614257
Mendeliome v0.1167 EPB41L1 Zornitza Stark reviewed gene: EPB41L1: Rating: RED; Mode of pathogenicity: None; Publications: 21376300, 26539891, 25961944; Phenotypes: Mental retardation, autosomal dominant 11, MIM# 614257; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1167 EMC1 Zornitza Stark Marked gene: EMC1 as ready
Mendeliome v0.1167 EMC1 Zornitza Stark Phenotypes for gene: EMC1 were changed from to Cerebellar atrophy, visual impairment, and psychomotor retardation, MIM# 616875
Mendeliome v0.1164 EMC1 Zornitza Stark reviewed gene: EMC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26942288, 29271071; Phenotypes: Cerebellar atrophy, visual impairment, and psychomotor retardation, MIM# 616875; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1164 SOD2 Zornitza Stark Marked gene: SOD2 as ready
Mendeliome v0.1164 SOD2 Zornitza Stark Phenotypes for gene: SOD2 were changed from to {Microvascular complications of diabetes 6} 612634
Mendeliome v0.1161 SOD2 Zornitza Stark reviewed gene: SOD2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Microvascular complications of diabetes 6} 612634; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1161 ATAD3A Zornitza Stark Marked gene: ATAD3A as ready
Mendeliome v0.1161 ATAD3A Zornitza Stark Phenotypes for gene: ATAD3A were changed from to Harel-Yoon syndrome, MIM# 617183
Mendeliome v0.1158 ATAD3A Zornitza Stark reviewed gene: ATAD3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27640307, 32004445; Phenotypes: Harel-Yoon syndrome, MIM# 617183; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1158 MYOM1 Zornitza Stark Marked gene: MYOM1 as ready
Mendeliome v0.1158 MYOM1 Zornitza Stark Phenotypes for gene: MYOM1 were changed from to Hypertrophic cardiomyopathy
Mendeliome v0.1154 MYOM1 Zornitza Stark reviewed gene: MYOM1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27600940, 26656175, 21256114; Phenotypes: Hypertrophic cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1154 DLG4 Zornitza Stark Phenotypes for gene: DLG4 were changed from to Intellectual disability; Marfanoid habitus
Mendeliome v0.1150 DLG4 Zornitza Stark edited their review of gene: DLG4: Added comment: Four unrelated individuals reported.; Changed rating: GREEN; Changed publications: 27479843, 25123844, 19617690, 29460436, 23020937, 28135719; Changed phenotypes: Intellectual disability, Marfanoid habitus; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Set current diagnostic: yes
Mendeliome v0.1150 DIP2B Zornitza Stark Marked gene: DIP2B as ready
Mendeliome v0.1150 DIP2B Zornitza Stark Phenotypes for gene: DIP2B were changed from to Mental retardation, FRA12A type, MIM# 136630
Mendeliome v0.1148 DIP2B Zornitza Stark Mode of pathogenicity for gene: DIP2B was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mendeliome v0.1145 DIP2B Zornitza Stark reviewed gene: DIP2B: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 17236128; Phenotypes: Mental retardation, FRA12A type, MIM# 136630; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1145 DCPS Zornitza Stark Marked gene: DCPS as ready
Mendeliome v0.1144 DCPS Zornitza Stark gene: DCPS was added
gene: DCPS was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: DCPS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCPS were set to 25701870; 30289615; 25712129
Phenotypes for gene: DCPS were set to Al-Raqad syndrome, MIM#616459
Review for gene: DCPS was set to GREEN
gene: DCPS was marked as current diagnostic
Added comment: 7 individuals from 3 families reported.
Sources: Expert list
Mendeliome v0.1143 CUX1 Zornitza Stark Marked gene: CUX1 as ready
Mendeliome v0.1142 CUX1 Zornitza Stark gene: CUX1 was added
gene: CUX1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: CUX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CUX1 were set to 25059644; 20510857; 30014507
Phenotypes for gene: CUX1 were set to Global developmental delay with or without impaired intellectual development, 618330
Review for gene: CUX1 was set to GREEN
gene: CUX1 was marked as current diagnostic
Added comment: Nine individuals from 7 families reported. Three individuals had normal intelligence at school age despite significant early developmental delay.
Sources: Expert list
Mendeliome v0.1141 COA3 Zornitza Stark Marked gene: COA3 as ready
Mendeliome v0.1137 CNTN3 Zornitza Stark Marked gene: CNTN3 as ready
Mendeliome v0.1133 CDK5R1 Zornitza Stark Marked gene: CDK5R1 as ready
Mendeliome v0.1129 LIPN Zornitza Stark Marked gene: LIPN as ready
Mendeliome v0.1125 SDR9C7 Zornitza Stark Marked gene: SDR9C7 as ready
Mendeliome v0.1124 SDR9C7 Zornitza Stark gene: SDR9C7 was added
gene: SDR9C7 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: SDR9C7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SDR9C7 were set to 28173123; 28369735
Phenotypes for gene: SDR9C7 were set to Ichthyosis, congenital, autosomal recessive 13 MIM#617574
Review for gene: SDR9C7 was set to GREEN
Added comment: Three homozygous variants in 4 families with congenital ichthyosis.
Sources: Expert list
Mendeliome v0.1123 ACSL4 Zornitza Stark Marked gene: ACSL4 as ready
Mendeliome v0.1123 ACSL4 Zornitza Stark Phenotypes for gene: ACSL4 were changed from to Mental retardation, X-linked 63, MIM# 300387 XLD
Mendeliome v0.1120 ACSL4 Zornitza Stark reviewed gene: ACSL4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11889465, 12525535; Phenotypes: Mental retardation, X-linked 63, MIM# 300387 XLD; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.1120 RBBP8 Zornitza Stark Marked gene: RBBP8 as ready
Mendeliome v0.1120 RBBP8 Zornitza Stark Added comment: Comment when marking as ready: Individuals from 3 families reported in the literature with bi-allelic variants in this gene: clinical diagnosis was Jawad syndrome in one, and Seckel syndrome in 2. ID is a reported feature. Additional variant in ClinVar, so overall rating Green.
Mendeliome v0.1116 NIPBL Zornitza Stark Marked gene: NIPBL as ready
Mendeliome v0.1114 HUWE1 Zornitza Stark Marked gene: HUWE1 as ready
Mendeliome v0.1114 HUWE1 Zornitza Stark Phenotypes for gene: HUWE1 were changed from to Mental retardation, X-linked syndromic, Turner type; Say-Meyer syndrome; Juberg-Marsidi syndrome
Mendeliome v0.1111 FLNA Zornitza Stark Marked gene: FLNA as ready
Mendeliome v0.1111 FLNA Zornitza Stark Phenotypes for gene: FLNA were changed from to ?FG syndrome 2, XL; Cardiac valvular dysplasia, X-linked; Congenital short bowel syndrome; Frontometaphyseal dysplasia 1; Heterotopia, periventricular, 1; Intestinal pseudoobstruction, neuronal Melnick-Needles syndrome; Otopalatodigital syndrome, type I; Otopalatodigital syndrome, type II; Terminal osseous dysplasia
Mendeliome v0.1108 WDR35 Zornitza Stark Marked gene: WDR35 as ready
Mendeliome v0.1106 DNAH11 Zornitza Stark Marked gene: DNAH11 as ready
Mendeliome v0.1106 DNAH11 Zornitza Stark Phenotypes for gene: DNAH11 were changed from to Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM#611884
Mendeliome v0.1104 ELOVL1 Zornitza Stark Marked gene: ELOVL1 as ready
Mendeliome v0.1102 CLDN10 Zornitza Stark Marked gene: CLDN10 as ready
Mendeliome v0.1100 CACNA2D3 Zornitza Stark Marked gene: CACNA2D3 as ready
Mendeliome v0.1100 CACNA2D3 Zornitza Stark Added comment: Comment when marking as ready: Agree no evidence for Mendelian gene-disease association.
Mendeliome v0.1098 CSTA Zornitza Stark Marked gene: CSTA as ready
Mendeliome v0.1095 CDSN Zornitza Stark Marked gene: CDSN as ready
Mendeliome v0.1092 CASP14 Zornitza Stark Marked gene: CASP14 as ready
Mendeliome v0.1090 LIPE Zornitza Stark Marked gene: LIPE as ready
Mendeliome v0.1089 ALDH3A2 Zornitza Stark Marked gene: ALDH3A2 as ready
Mendeliome v0.1089 ALDH3A2 Zornitza Stark Phenotypes for gene: ALDH3A2 were changed from to Sjogren-Larsson syndrome MIM#270200; spasticity; ichthyosis; intellectual disability
Mendeliome v0.1086 ALDH3A2 Zornitza Stark reviewed gene: ALDH3A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31273323; Phenotypes: Sjogren-Larsson syndrome MIM#270200, spasticity, ichthyosis, intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1086 MYT1L Zornitza Stark Marked gene: MYT1L as ready
Mendeliome v0.1086 ABHD5 Zornitza Stark Marked gene: ABHD5 as ready
Mendeliome v0.1086 ABHD5 Zornitza Stark Phenotypes for gene: ABHD5 were changed from to Chanarin-Dorfman syndrome MIM#275630; neutral lipid storage disease with ichthyosis; non-bullous congenital ichthyosiform erythroderma
Mendeliome v0.1083 ABHD5 Zornitza Stark reviewed gene: ABHD5: Rating: GREEN; Mode of pathogenicity: None; Publications: 30795549; Phenotypes: Chanarin-Dorfman syndrome MIM#275630, neutral lipid storage disease with ichthyosis, non-bullous congenital ichthyosiform erithroderma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1083 TUBGCP6 Zornitza Stark Marked gene: TUBGCP6 as ready
Mendeliome v0.1080 MYT1L Zornitza Stark Phenotypes for gene: MYT1L were changed from to Mental retardation, autosomal dominant 39, MIM# 616521
Mendeliome v0.1077 MYT1L Zornitza Stark reviewed gene: MYT1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 28859103; Phenotypes: Mental retardation, autosomal dominant 39, MIM# 616521; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1077 LIPT1 Zornitza Stark Marked gene: LIPT1 as ready
Mendeliome v0.1075 ARSA Zornitza Stark Marked gene: ARSA as ready
Mendeliome v0.1075 ARSA Zornitza Stark Gene: arsa has been classified as Green List (High Evidence).
Mendeliome v0.1075 ARSA Zornitza Stark Phenotypes for gene: ARSA were changed from to Metachromatic leukodystrophy, MIM#250100
Mendeliome v0.1074 ARSA Zornitza Stark Mode of inheritance for gene: ARSA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1073 ACTA1 Zornitza Stark Marked gene: ACTA1 as ready
Mendeliome v0.1069 RBBP8 Elena Savva reviewed gene: RBBP8: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 21998596; Phenotypes: Jawad syndrome, Seckel syndrome 2, Pancreatic carcinoma, somatic; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1069 HUWE1 Elena Savva reviewed gene: HUWE1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30797980, 29180823; Phenotypes: Mental retardation, X-linked syndromic, Turner type, Say-Meyer syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.1069 FLNA Elena Savva reviewed gene: FLNA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30089473; Phenotypes: ?FG syndrome 2, XL, Cardiac valvular dysplasia, X-linked, Congenital short bowel syndrome, Frontometaphyseal dysplasia 1, Heterotopia, periventricular, 1, Intestinal pseudoobstruction, neuronal Melnick-Needles syndrome, Otopalatodigital syndrome, type I, Otopalatodigital syndrome, type II, Terminal osseous dysplasia; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.1069 LIPE Kristin Rigbye gene: LIPE was added
gene: LIPE was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: LIPE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIPE were set to 27862896; 25475467; 24848981
Phenotypes for gene: LIPE were set to Lipodystrophy, familial partial, type 6, 615980
Review for gene: LIPE was set to GREEN
gene: LIPE was marked as current diagnostic
Added comment: LIPE is confirmed to be associated with partial familial lipodystrophy in OMIM.
There are 3 unrelated cases of patients with partial lipodystrophy with different loss of function variants in the LIPE gene.
Sources: Expert list
Mendeliome v0.1069 DNAH11 Elena Savva reviewed gene: DNAH11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 7, with or without situs inversus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1069 FGF3 Zornitza Stark Phenotypes for gene: FGF3 were changed from Deafness, congenital with inner ear agenesis, microtia, and microdontiaDeafness, congenital with inner ear agenesis, microtia, and microdontia, MIM#610706 to Deafness, congenital with inner ear agenesis, microtia, and microdontia, MIM#610706
Mendeliome v0.1068 FGF3 Zornitza Stark Marked gene: FGF3 as ready
Mendeliome v0.1068 PHF8 Zornitza Stark Marked gene: PHF8 as ready
Mendeliome v0.1068 IRF2BPL Zornitza Stark Marked gene: IRF2BPL as ready
Mendeliome v0.1068 FGF3 Zornitza Stark Phenotypes for gene: FGF3 were changed from to Deafness, congenital with inner ear agenesis, microtia, and microdontiaDeafness, congenital with inner ear agenesis, microtia, and microdontia, MIM#610706
Mendeliome v0.1062 PHF8 Zornitza Stark Phenotypes for gene: PHF8 were changed from to Mental retardation syndrome, X-linked, Siderius type, MIM#300263
Mendeliome v0.1061 IARS Zornitza Stark Marked gene: IARS as ready
Mendeliome v0.1061 IARS Zornitza Stark Gene: iars has been classified as Green List (High Evidence).
Mendeliome v0.1061 IARS Zornitza Stark Phenotypes for gene: IARS were changed from to Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093
Mendeliome v0.1059 PHF8 Zornitza Stark reviewed gene: PHF8: Rating: GREEN; Mode of pathogenicity: None; Publications: 17661819, 17594395, 16199551; Phenotypes: Mental retardation syndrome, X-linked, Siderius type, MIM#300263; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1059 IARS Zornitza Stark Publications for gene: IARS were set to
Mendeliome v0.1058 LONP1 Zornitza Stark Marked gene: LONP1 as ready
Mendeliome v0.1055 IARS Zornitza Stark Mode of inheritance for gene: IARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1054 IARS Zornitza Stark reviewed gene: IARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 27426735; Phenotypes: Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1054 ARSA Elena Savva reviewed gene: ARSA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Metachromatic leukodystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1054 FGF3 Elena Savva reviewed gene: FGF3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, congenital with inner ear agenesis, microtia, and microdontia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1054 FGF3 Elena Savva reviewed gene: FGF3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, congenital with inner ear agenesis, microtia, and microdontia; Mode of inheritance: None
Mendeliome v0.1054 KMT5B Zornitza Stark Marked gene: KMT5B as ready
Mendeliome v0.1054 KMT5B Zornitza Stark Phenotypes for gene: KMT5B were changed from to Mental retardation, autosomal dominant 51
Mendeliome v0.1052 GNAO1 Zornitza Stark Marked gene: GNAO1 as ready
Mendeliome v0.1052 GNAO1 Zornitza Stark Phenotypes for gene: GNAO1 were changed from to Epileptic encephalopathy, early infantile, 17; Neurodevelopmental disorder with involuntary movements
Mendeliome v0.1050 KMT5B Elena Savva reviewed gene: KMT5B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, autosomal dominant 51; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Mendeliome v0.1048 GNAO1 Zornitza Stark reviewed gene: GNAO1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28747448, 30682224; Phenotypes: Epileptic encephalopathy, early infantile, 17, Neurodevelopmental disorder with involuntary movements; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1048 CACNG2 Zornitza Stark Marked gene: CACNG2 as ready
Mendeliome v0.1048 CACNG2 Zornitza Stark Phenotypes for gene: CACNG2 were changed from to Mental retardation, autosomal dominant 10, MIM#614256
Mendeliome v0.1045 CACNG2 Zornitza Stark reviewed gene: CACNG2: Rating: RED; Mode of pathogenicity: None; Publications: 21376300; Phenotypes: Mental retardation, autosomal dominant 10, MIM#614256; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1045 PPM1D Zornitza Stark Marked gene: PPM1D as ready
Mendeliome v0.1042 EGFR Zornitza Stark Marked gene: EGFR as ready
Mendeliome v0.1038 CLCNKA Zornitza Stark Marked gene: CLCNKA as ready
Mendeliome v0.1037 CLCNKA Zornitza Stark Phenotypes for gene: CLCNKA were changed from to Bartter syndrome, type 4b, digenic; OMIM #613090
Mendeliome v0.1036 SLC9A3R1 Zornitza Stark Marked gene: SLC9A3R1 as ready
Mendeliome v0.1030 EGF Zornitza Stark Marked gene: EGF as ready
Mendeliome v0.1026 CLCNKA Zornitza Stark reviewed gene: CLCNKA: Rating: AMBER; Mode of pathogenicity: None; Publications: 18310267, 29254190; Phenotypes: Bartter syndrome, type 4b, digenic, OMIM #613090; Mode of inheritance: Other
Mendeliome v0.1026 FST Zornitza Stark Marked gene: FST as ready
Mendeliome v0.1026 MYRF Zornitza Stark Marked gene: MYRF as ready
Mendeliome v0.1025 MYRF Zornitza Stark gene: MYRF was added
gene: MYRF was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: MYRF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYRF were set to 31048900; 31172260; 31266062; 31700225
Phenotypes for gene: MYRF were set to Nanophthalmos; High hyperopia
Review for gene: MYRF was set to GREEN
gene: MYRF was marked as current diagnostic
Added comment: Multiple affected individuals reported.
Sources: Expert list
Mendeliome v0.1024 FBXW11 Alison Yeung Marked gene: FBXW11 as ready
Mendeliome v0.1023 MAB21L1 Zornitza Stark Marked gene: MAB21L1 as ready
Mendeliome v0.1021 ANAPC1 Alison Yeung Marked gene: ANAPC1 as ready
Mendeliome v0.1020 ANAPC1 Alison Yeung gene: ANAPC1 was added
gene: ANAPC1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ANAPC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ANAPC1 were set to PMID: 31303264
Phenotypes for gene: ANAPC1 were set to Rothmund Thomson syndrome type 1, OMIM 618625
Review for gene: ANAPC1 was set to GREEN
gene: ANAPC1 was marked as current diagnostic
Added comment: 7 unrelated families reported
Sources: Literature
Mendeliome v0.1019 RINT1 Alison Yeung Marked gene: RINT1 as ready
Mendeliome v0.1018 RINT1 Alison Yeung gene: RINT1 was added
gene: RINT1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RINT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RINT1 were set to PMID: 31204009
Phenotypes for gene: RINT1 were set to Recurrent acute liver failure
Review for gene: RINT1 was set to GREEN
gene: RINT1 was marked as current diagnostic
Added comment: three unrelated individuals reported
Sources: Literature
Mendeliome v0.1016 MAB21L1 Sue White gene: MAB21L1 was added
gene: MAB21L1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MAB21L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAB21L1 were set to 30487245
Phenotypes for gene: MAB21L1 were set to Cerebellar, ocular, craniofacial, and genital syndrome #MIM 618479
Penetrance for gene: MAB21L1 were set to Complete
Review for gene: MAB21L1 was set to GREEN
Added comment: Sources: Literature
Mendeliome v0.1015 ASMT Zornitza Stark Marked gene: ASMT as ready
Mendeliome v0.1014 ARHGEF6 Zornitza Stark Phenotypes for gene: ARHGEF6 were changed from to MENTAL RETARDATION X-LINKED TYPE 46
Mendeliome v0.1013 ARHGEF6 Zornitza Stark Publications for gene: ARHGEF6 were set to
Mendeliome v0.1012 ARHGEF6 Zornitza Stark Mode of inheritance for gene: ARHGEF6 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1011 ARHGEF6 Zornitza Stark Classified gene: ARHGEF6 as Red List (low evidence)
Mendeliome v0.1011 ARHGEF6 Zornitza Stark Gene: arhgef6 has been classified as Red List (Low Evidence).
Mendeliome v0.1010 ARHGEF6 Zornitza Stark reviewed gene: ARHGEF6: Rating: RED; Mode of pathogenicity: None; Publications: 11017088; Phenotypes: MENTAL RETARDATION X-LINKED TYPE 46; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1010 XRCC4 Zornitza Stark Marked gene: XRCC4 as ready
Mendeliome v0.1007 AIMP2 Zornitza Stark Marked gene: AIMP2 as ready
Mendeliome v0.1007 NUP37 Zornitza Stark Marked gene: NUP37 as ready
Mendeliome v0.1007 SCRIB Zornitza Stark Marked gene: SCRIB as ready
Mendeliome v0.1006 ANK3 Zornitza Stark Marked gene: ANK3 as ready
Mendeliome v0.1006 ANK3 Zornitza Stark Phenotypes for gene: ANK3 were changed from to Mental retardation, autosomal recessive, 37, MIM# 615493
Mendeliome v0.1002 ANK3 Zornitza Stark reviewed gene: ANK3: Rating: RED; Mode of pathogenicity: None; Publications: 23390136, 28687526; Phenotypes: Mental retardation, autosomal recessive, 37 615493; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1001 ATP6V1C2 Zornitza Stark Marked gene: ATP6V1C2 as ready
Mendeliome v0.1001 ATP6V1C2 Zornitza Stark gene: ATP6V1C2 was added
gene: ATP6V1C2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ATP6V1C2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP6V1C2 were set to 31959358
Phenotypes for gene: ATP6V1C2 were set to Distal renal tubular acidosis
Review for gene: ATP6V1C2 was set to RED
Added comment: Single family reported, limited functional data.
Sources: Literature
Mendeliome v0.1000 ANKRD11 Zornitza Stark Marked gene: ANKRD11 as ready
Mendeliome v0.997 AGGF1 Zornitza Stark Marked gene: AGGF1 as ready
Mendeliome v0.992 HCN2 Zornitza Stark edited their review of gene: HCN2: Added comment: Further cases identified. Evidence for both mono-allelic and bi-allelic variants causing disease; also evidence for both GoF and LoF as mechanism.; Changed rating: GREEN; Changed publications: 22131395, 30986657, 29064616, 20437590, 12514127, 17931874; Changed phenotypes: Genetic epilepsy with febrile seizures plus, Other seizure disorders; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.992 CTBP1 Zornitza Stark Marked gene: CTBP1 as ready
Mendeliome v0.991 CTBP1 Zornitza Stark gene: CTBP1 was added
gene: CTBP1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: CTBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CTBP1 were set to 27094857; 28955726; 31041561
Phenotypes for gene: CTBP1 were set to Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, MIM#617915
Review for gene: CTBP1 was set to GREEN
gene: CTBP1 was marked as current diagnostic
Added comment: At least 12 unrelated individuals reported with this neurodevelopmental disorder.
Sources: Expert list
Mendeliome v0.990 AGO1 Zornitza Stark Marked gene: AGO1 as ready
Mendeliome v0.989 AGO1 Zornitza Stark gene: AGO1 was added
gene: AGO1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: AGO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AGO1 were set to 30213762; 22495306; 23020937; 25363768; 25356899; 27620904; 29346770; 28135719
Phenotypes for gene: AGO1 were set to Intellectual disability; autism
Review for gene: AGO1 was set to GREEN
Added comment: Multiple individuals reported with de novo variants in this gene, most as part of large ID cohorts so phenotypic information is scarce; however, given large number I have rated as Green.
Sources: Expert list
Mendeliome v0.988 CNOT2 Sebastian Lunke Marked gene: CNOT2 as ready
Mendeliome v0.987 CNOT2 Sebastian Lunke gene: CNOT2 was added
gene: CNOT2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: CNOT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CNOT2 were set to 31512373; 31145527; 28135719
Phenotypes for gene: CNOT2 were set to Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies 618608
Review for gene: CNOT2 was set to GREEN
gene: CNOT2 was marked as current diagnostic
Added comment: From GEL: Three independent patients with non-sense or intra-genic deletions
Sources: Expert list
Mendeliome v0.986 CCDC88C Sebastian Lunke Phenotypes for gene: CCDC88C were changed from Spinocerebellar ataxia 40, MIM#616053 to Spinocerebellar ataxia 40, MIM#616053; Hydrocephalus, nonsyndromic, autosomal recessive 236600 AR
Mendeliome v0.982 CCDC88C Sebastian Lunke reviewed gene: CCDC88C: Rating: GREEN; Mode of pathogenicity: None; Publications: 23042809, 21031079, 25062847, 30398676; Phenotypes: Spinocerebellar ataxia 40, MIM#616053, Hydrocephalus, nonsyndromic, autosomal recessive 236600 AR; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.981 CCDC47 Sebastian Lunke gene: CCDC47 was added
gene: CCDC47 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: CCDC47 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC47 were set to 30401460
Phenotypes for gene: CCDC47 were set to Trichohepatoneurodevelopmental syndrome, 618268
Review for gene: CCDC47 was set to GREEN
gene: CCDC47 was marked as current diagnostic
Added comment: From GEL: Morimoto el al. (PMID: 30401460) report on 4 individuals from 4 unrelated families with biallelic LoF variants in CCDC47. The phenotype consisted of abnormal (woolly) hair, liver dysfunction, common facial features as well as DD/ID
Sources: Expert list
Mendeliome v0.980 CLIC2 Zornitza Stark Marked gene: CLIC2 as ready
Mendeliome v0.979 CLIC2 Zornitza Stark Phenotypes for gene: CLIC2 were changed from to Mental retardation, X-linked, syndromic 32, 300886
Mendeliome v0.976 CLIC2 Zornitza Stark reviewed gene: CLIC2: Rating: RED; Mode of pathogenicity: None; Publications: 22814392, 25927380; Phenotypes: Mental retardation, X-linked, syndromic 32, 300886; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.976 IKZF5 Zornitza Stark Marked gene: IKZF5 as ready
Mendeliome v0.975 IKZF5 Zornitza Stark gene: IKZF5 was added
gene: IKZF5 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: IKZF5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IKZF5 were set to 31217188
Phenotypes for gene: IKZF5 were set to Thrombocytopaenia
Review for gene: IKZF5 was set to GREEN
Added comment: Five unrelated individuals with missense variants in this gene. Two de novo, three segregated with disease
Sources: Expert Review
Mendeliome v0.974 TTC12 Zornitza Stark Marked gene: TTC12 as ready
Mendeliome v0.973 TTC12 Zornitza Stark gene: TTC12 was added
gene: TTC12 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TTC12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTC12 were set to 31978331
Phenotypes for gene: TTC12 were set to Ciliary dyskinesia
Review for gene: TTC12 was set to GREEN
Added comment: Four unrelated families reported, LoF variants, respiratory phenotype.
Sources: Literature
Mendeliome v0.972 GCSH Zornitza Stark Marked gene: GCSH as ready
Mendeliome v0.971 STT3B Zornitza Stark Marked gene: STT3B as ready
Mendeliome v0.963 SLC39A8 Zornitza Stark Marked gene: SLC39A8 as ready
Mendeliome v0.960 PIGS Zornitza Stark Marked gene: PIGS as ready
Mendeliome v0.958 FUK Zornitza Stark Marked gene: FUK as ready
Mendeliome v0.956 ZNF142 Zornitza Stark Marked gene: ZNF142 as ready
Mendeliome v0.955 ZNF142 Zornitza Stark gene: ZNF142 was added
gene: ZNF142 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: ZNF142 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF142 were set to 31036918
Phenotypes for gene: ZNF142 were set to Neurodevelopmental disorder with impaired speech and hyperkinetic movements, MIM#618425
Review for gene: ZNF142 was set to GREEN
gene: ZNF142 was marked as current diagnostic
Added comment: 7 individuals from 4 unrelated families reported.
Sources: Expert list
Mendeliome v0.954 RALA Zornitza Stark Marked gene: RALA as ready
Mendeliome v0.953 RALA Zornitza Stark gene: RALA was added
gene: RALA was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: RALA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RALA were set to 30500825
Phenotypes for gene: RALA were set to Intellectual disability; Seizures
Review for gene: RALA was set to GREEN
gene: RALA was marked as current diagnostic
Added comment: 11 individuals from 10 unrelated families reported with this neurodevelopmental syndrome, half had seizures.
Sources: Expert list
Mendeliome v0.952 NBEA Zornitza Stark Marked gene: NBEA as ready
Mendeliome v0.951 NBEA Zornitza Stark gene: NBEA was added
gene: NBEA was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: NBEA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NBEA were set to 30269351; 28554332; 12746398; 12826745; 11450821; 3377648; 23277425; 22109531; 23153818
Phenotypes for gene: NBEA were set to Intellectual disability; Seizures
Review for gene: NBEA was set to GREEN
gene: NBEA was marked as current diagnostic
Added comment: 24 de novo variants reported in individuals with a neurodevelopmental disorder
Sources: Expert list
Mendeliome v0.949 MACF1 Zornitza Stark gene: MACF1 was added
gene: MACF1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: MACF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MACF1 were set to 30471716
Phenotypes for gene: MACF1 were set to Lissencephaly 9 with complex brainstem malformation, MIM# 618325
Mode of pathogenicity for gene: MACF1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: MACF1 was set to GREEN
Added comment: Nine individuals (including a pair of twins) reported with de novo variants in this gene.
Sources: Expert list
Mendeliome v0.947 KATNB1 Zornitza Stark Marked gene: KATNB1 as ready
Mendeliome v0.944 NLGN4X Zornitza Stark Marked gene: NLGN4X as ready
Mendeliome v0.944 NLGN4X Zornitza Stark Phenotypes for gene: NLGN4X were changed from to Mental retardation, X-linked, MIM# 300495
Mendeliome v0.940 NLGN4X Zornitza Stark reviewed gene: NLGN4X: Rating: RED; Mode of pathogenicity: None; Publications: 12669065, 18231125, 10071191, 29428674; Phenotypes: Mental retardation, X-linked, MIM# 300495; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.940 HNRNPR Zornitza Stark Marked gene: HNRNPR as ready
Mendeliome v0.939 HNRNPR Zornitza Stark gene: HNRNPR was added
gene: HNRNPR was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: HNRNPR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HNRNPR were set to 26795593; 31079900
Phenotypes for gene: HNRNPR were set to Intellectual disability; seizures
Review for gene: HNRNPR was set to GREEN
gene: HNRNPR was marked as current diagnostic
Added comment: Five unrelated individuals reported with de novo variants and a neurodevelopmental disorder.
Sources: Expert list
Mendeliome v0.938 USB1 Zornitza Stark Marked gene: USB1 as ready
Mendeliome v0.935 GNB5 Zornitza Stark Marked gene: GNB5 as ready
Mendeliome v0.935 GNB5 Zornitza Stark Phenotypes for gene: GNB5 were changed from to Intellectual developmental disorder with cardiac arrhythmia, 617173; Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182; Early infantile epileptic encephalopathy (EIEE)
Mendeliome v0.932 FAR1 Zornitza Stark Marked gene: FAR1 as ready
Mendeliome v0.932 FAR1 Zornitza Stark Gene: far1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.932 FAR1 Zornitza Stark Publications for gene: FAR1 were set to
Mendeliome v0.931 FAR1 Zornitza Stark Phenotypes for gene: FAR1 were changed from to Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154
Mendeliome v0.930 FAR1 Zornitza Stark Mode of inheritance for gene: FAR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.929 FAR1 Zornitza Stark Classified gene: FAR1 as Amber List (moderate evidence)
Mendeliome v0.929 FAR1 Zornitza Stark Gene: far1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.928 FAR1 Zornitza Stark reviewed gene: FAR1: Rating: AMBER; Mode of pathogenicity: None; Publications: 25439727; Phenotypes: Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.928 EFHC1 Zornitza Stark Marked gene: EFHC1 as ready
Mendeliome v0.924 CEP89 Zornitza Stark Marked gene: CEP89 as ready
Mendeliome v0.920 MAP4K4 Zornitza Stark Marked gene: MAP4K4 as ready
Mendeliome v0.919 NAGA Zornitza Stark Marked gene: NAGA as ready
Mendeliome v0.916 RAB11A Zornitza Stark Marked gene: RAB11A as ready
Mendeliome v0.914 RAB11A Zornitza Stark gene: RAB11A was added
gene: RAB11A was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RAB11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAB11A were set to 29100083
Phenotypes for gene: RAB11A were set to Intellectual disability; seizures
Review for gene: RAB11A was set to AMBER
Added comment: Five individuals reported with DNMs and neurodevelopmental phenotypes as part of this paper; however, clinical details are sparse. Emerging gene, phenotype not yet clearly delineated.
Sources: Literature
Mendeliome v0.913 DHPS Zornitza Stark Marked gene: DHPS as ready
Mendeliome v0.912 DHPS Zornitza Stark gene: DHPS was added
gene: DHPS was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: DHPS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHPS were set to 30661771
Phenotypes for gene: DHPS were set to Neurodevelopmental disorder with seizures and speech and walking impairment, MIM#618480
Review for gene: DHPS was set to GREEN
gene: DHPS was marked as current diagnostic
Added comment: 5 individuals from 4 unrelated families with biallelic pathogenic variants in DHPS, note one variant is recurrent (c.518A>G or p.Asn173Ser). The phenotype consisted of DD/ID (5/5), tone abnormalities (hypotonia/hypertonia/spasticity - 5/5), seizures (5/5 - in one case though unclear staring spells) with EEG abnormalities (5/5). Additionally most individuals displayed behavioral issues, or some common facial features
Sources: Expert list
Mendeliome v0.911 RBFOX1 Zornitza Stark Marked gene: RBFOX1 as ready
Mendeliome v0.907 DDOST Zornitza Stark Marked gene: DDOST as ready
Mendeliome v0.903 PIK3C2A Zornitza Stark Marked gene: PIK3C2A as ready
Mendeliome v0.901 PIK3C2A Zornitza Stark gene: PIK3C2A was added
gene: PIK3C2A was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: PIK3C2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PIK3C2A were set to 31034465
Phenotypes for gene: PIK3C2A were set to Oculoskeletodental syndrome, MIM# 618440
Review for gene: PIK3C2A was set to GREEN
gene: PIK3C2A was marked as current diagnostic
Added comment: Three unrelated consanguineous families reported.
Sources: Expert list
Mendeliome v0.900 FGF16 Zornitza Stark Marked gene: FGF16 as ready
Mendeliome v0.899 FGF16 Zornitza Stark gene: FGF16 was added
gene: FGF16 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: FGF16 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FGF16 were set to Metacarpal 4-5 fusion, MIM# 309630
Review for gene: FGF16 was set to GREEN
gene: FGF16 was marked as current diagnostic
Added comment: Sources: Expert list
Mendeliome v0.898 NTNG1 Zornitza Stark Marked gene: NTNG1 as ready
Mendeliome v0.897 GAS1 Zornitza Stark Marked gene: GAS1 as ready
Mendeliome v0.893 IMMP2L Zornitza Stark Marked gene: IMMP2L as ready
Mendeliome v0.889 PTPRR Zornitza Stark Marked gene: PTPRR as ready
Mendeliome v0.889 STAT4 Zornitza Stark Marked gene: STAT4 as ready
Mendeliome v0.887 HOXB6 Zornitza Stark Marked gene: HOXB6 as ready
Mendeliome v0.884 LIFR Zornitza Stark Marked gene: LIFR as ready
Mendeliome v0.884 LIFR Zornitza Stark Phenotypes for gene: LIFR were changed from to Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, MIM# 601559; CAKUT
Mendeliome v0.880 CACNA1B Zornitza Stark Marked gene: CACNA1B as ready
Mendeliome v0.877 CDH2 Zornitza Stark Marked gene: CDH2 as ready
Mendeliome v0.876 CDH2 Zornitza Stark gene: CDH2 was added
gene: CDH2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDH2 were set to 31585109
Phenotypes for gene: CDH2 were set to Intellectual disability; corpus callosum abnormalities; congenital abnormalities
Review for gene: CDH2 was set to GREEN
Added comment: Nine unrelated individuals reported with de novo variants in this gene.
Sources: Literature
Mendeliome v0.874 NTNG2 Zornitza Stark Marked gene: NTNG2 as ready
Mendeliome v0.871 RPL13 Zornitza Stark Marked gene: RPL13 as ready
Mendeliome v0.870 RPL13 Zornitza Stark gene: RPL13 was added
gene: RPL13 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RPL13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL13 were set to 31630789
Phenotypes for gene: RPL13 were set to Spondyloepimetaphyseal Dysplasia with Severe Short Stature
Review for gene: RPL13 was set to GREEN
Added comment: Four unrelated individuals reported with de novo variants.
Sources: Literature
Mendeliome v0.869 FOXJ1 Zornitza Stark Marked gene: FOXJ1 as ready
Mendeliome v0.866 TUBGCP2 Zornitza Stark Marked gene: TUBGCP2 as ready
Mendeliome v0.864 RRAS2 Zornitza Stark Marked gene: RRAS2 as ready
Mendeliome v0.861 TP73 Alison Yeung Marked gene: TP73 as ready
Mendeliome v0.859 SMG8 Alison Yeung Marked gene: SMG8 as ready
Mendeliome v0.857 IQSEC3 Alison Yeung Marked gene: IQSEC3 as ready
Mendeliome v0.855 ICE1 Alison Yeung Marked gene: ICE1 as ready
Mendeliome v0.853 EIF2A Alison Yeung Marked gene: EIF2A as ready
Mendeliome v0.845 KCNN3 Alison Yeung Marked gene: KCNN3 as ready
Mendeliome v0.844 KCNN3 Alison Yeung gene: KCNN3 was added
gene: KCNN3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KCNN3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNN3 were set to PMID: 31155282
Phenotypes for gene: KCNN3 were set to Zimmermann-Laband syndrome 3; OMIM# 618658
Review for gene: KCNN3 was set to GREEN
gene: KCNN3 was marked as current diagnostic
Added comment: Three unrelated individuals reported
Sources: Literature
Mendeliome v0.843 CTNND2 Zornitza Stark Marked gene: CTNND2 as ready
Mendeliome v0.839 ADCY8 Zornitza Stark Marked gene: ADCY8 as ready
Mendeliome v0.839 ADCY8 Zornitza Stark Added comment: Comment when marking as ready: Cannot find evidence for Mendelian gene-disease association.
Mendeliome v0.838 CNOT1 Alison Yeung Marked gene: CNOT1 as ready
Mendeliome v0.837 CNOT1 Alison Yeung gene: CNOT1 was added
gene: CNOT1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CNOT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CNOT1 were set to PMID: 31006513
Phenotypes for gene: CNOT1 were set to Holoprosencephaly 12, with or without pancreatic agenesis; OMIM# 618500
Review for gene: CNOT1 was set to GREEN
gene: CNOT1 was marked as current diagnostic
Added comment: Reported in 3 unrelated individuals
Sources: Literature
Mendeliome v0.836 IQSEC1 Zornitza Stark Marked gene: IQSEC1 as ready
Mendeliome v0.834 ACAN Zornitza Stark Marked gene: ACAN as ready
Mendeliome v0.833 ACAN Zornitza Stark gene: ACAN was added
gene: ACAN was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: ACAN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ACAN were set to Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, OMIM# 165800; Spondyloepimetaphyseal dysplasia, aggrecan type 612813
Review for gene: ACAN was set to GREEN
Added comment: Sources: Expert list
Mendeliome v0.832 NKX2-2 Zornitza Stark Marked gene: NKX2-2 as ready
Mendeliome v0.831 NKX2-2 Zornitza Stark gene: NKX2-2 was added
gene: NKX2-2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: NKX2-2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NKX2-2 were set to 24411943; 9584121
Phenotypes for gene: NKX2-2 were set to Syndromic neonatal diabetes, with severe developmental delay, hypotonia, cortical blindness, hearing impairment
Review for gene: NKX2-2 was set to GREEN
Added comment: Sources: Expert list
Mendeliome v0.830 KDM3B Alison Yeung Marked gene: KDM3B as ready
Mendeliome v0.829 LEMD2 Alison Yeung Marked gene: LEMD2 as ready
Mendeliome v0.827 PLD1 Zornitza Stark Marked gene: PLD1 as ready
Mendeliome v0.827 PLD1 Zornitza Stark Phenotypes for gene: PLD1 were changed from to Cardiac valvular defect, developmental, MIM# 212093
Mendeliome v0.825 FAM149B1 Alison Yeung Marked gene: FAM149B1 as ready
Mendeliome v0.822 FAM149B1 Alison Yeung gene: FAM149B1 was added
gene: FAM149B1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FAM149B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM149B1 were set to PMID: 30905400
Phenotypes for gene: FAM149B1 were set to Joubert; Ciliopathy
Review for gene: FAM149B1 was set to GREEN
gene: FAM149B1 was marked as current diagnostic
Added comment: Four unrelated families reported
Sources: Literature
Mendeliome v0.821 CARS Alison Yeung Marked gene: CARS as ready
Mendeliome v0.821 CARS Alison Yeung Gene: cars has been classified as Green List (High Evidence).
Mendeliome v0.821 CARS Alison Yeung Classified gene: CARS as Green List (high evidence)
Mendeliome v0.821 CARS Alison Yeung Gene: cars has been classified as Green List (High Evidence).
Mendeliome v0.820 CARS Alison Yeung gene: CARS was added
gene: CARS was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CARS were set to PMID: 30824121
Phenotypes for gene: CARS were set to Intellectual disability; microcephaly; brittle hair and nails
Added comment: Three reported unrelated families
Sources: Literature
Mendeliome v0.819 MAPK8IP3 Zornitza Stark Marked gene: MAPK8IP3 as ready
Mendeliome v0.818 MAPK8IP3 Zornitza Stark gene: MAPK8IP3 was added
gene: MAPK8IP3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MAPK8IP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAPK8IP3 were set to 30612693
Phenotypes for gene: MAPK8IP3 were set to Neurodevelopmental disorder with or without variable brain abnormalities OMIM# 605431
Review for gene: MAPK8IP3 was set to GREEN
Added comment: >3 reported individuals and functional evidence in Caenorhabditis elegans
Sources: Literature
Mendeliome v0.817 NCAPG2 Zornitza Stark Marked gene: NCAPG2 as ready
Mendeliome v0.815 ADAMTS9 Zornitza Stark Marked gene: ADAMTS9 as ready
Mendeliome v0.813 RIC1 Zornitza Stark Marked gene: RIC1 as ready
Mendeliome v0.812 RIC1 Zornitza Stark gene: RIC1 was added
gene: RIC1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RIC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RIC1 were set to 31932796
Phenotypes for gene: RIC1 were set to Cleft lip; cataract; tooth abnormality; intellectual disability; facial dysmorphism; ADHD
Review for gene: RIC1 was set to AMBER
Added comment: Zebrafish model and consanguineous families but homozygous-by-descent.
Sources: Literature
Mendeliome v0.811 BICC1 Zornitza Stark Marked gene: BICC1 as ready
Mendeliome v0.808 BNC2 Zornitza Stark Marked gene: BNC2 as ready
Mendeliome v0.807 BNC2 Zornitza Stark gene: BNC2 was added
gene: BNC2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: BNC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BNC2 were set to 31656805; 31051115
Phenotypes for gene: BNC2 were set to Lower urinary tract obstruction, congenital; OMIM #618612
Review for gene: BNC2 was set to GREEN
gene: BNC2 was marked as current diagnostic
Added comment: At least four unrelated families reported.
Sources: Expert list
Mendeliome v0.806 SIX2 Zornitza Stark Marked gene: SIX2 as ready
Mendeliome v0.806 SIX2 Zornitza Stark Added comment: Comment when marking as ready: Single family reported.
Mendeliome v0.802 SRGAP1 Zornitza Stark Marked gene: SRGAP1 as ready
Mendeliome v0.802 SRGAP1 Zornitza Stark Added comment: Comment when marking as ready: Two families reported.
Mendeliome v0.798 TET3 Zornitza Stark Marked gene: TET3 as ready
Mendeliome v0.797 TET3 Zornitza Stark gene: TET3 was added
gene: TET3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TET3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TET3 were set to 31928709
Phenotypes for gene: TET3 were set to Intellectual disability; dysmorphic features; abnormal growth; movement disorders
Review for gene: TET3 was set to GREEN
Added comment: Eleven individuals from 8 families described. Mono-allelic frameshift and nonsense variants occur throughout the coding region. Mono-allelic and bi-allelic missense variants localize to conserved residues; all but one such variant occur within the catalytic domain, and most display hypomorphic function in an assay of catalytic activity.
Sources: Literature
Mendeliome v0.796 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Mendeliome v0.794 STN1 Zornitza Stark Marked gene: STN1 as ready
Mendeliome v0.791 JAM2 Zornitza Stark Marked gene: JAM2 as ready
Mendeliome v0.790 JAM2 Zornitza Stark gene: JAM2 was added
gene: JAM2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: JAM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: JAM2 were set to 31851307
Phenotypes for gene: JAM2 were set to Primary brain calcification
Review for gene: JAM2 was set to GREEN
Added comment: Three unrelated families with bi-allelic variants reported. The clinical phenotypes of the four patients included parkinsonism (3/4), dysarthria (3/4), seizures (1/4), and probable asymptomatic (1/4), with diverse onset ages.
Sources: Literature
Mendeliome v0.789 TDP2 Zornitza Stark Marked gene: TDP2 as ready
Mendeliome v0.788 TDP2 Zornitza Stark gene: TDP2 was added
gene: TDP2 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: TDP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TDP2 were set to 31410782; 30109272; 24658003
Phenotypes for gene: TDP2 were set to Spinocerebellar ataxia, autosomal recessive 23; OMIM #616949
Review for gene: TDP2 was set to GREEN
Added comment: ID is part of the phenotype: 4 families with 6 affected patients, with functional evidence.

1 family with 3 affected sibs with homozygous splice site mutation in the TDP2 gene. Patient cell extracts showed absence of the full-length TDP2 protein and absence of 5-prime TDP activity, consistent with a loss of function, although 3-prime TDP activity, conferred by TDP1, was normal. In addition, patient lymphoblastoid cells were hypersensitive to the TOP2 poison etoposide. The findings indicated impaired capacity for double-strand break repair.

1 unrelated Egyptian patient with a similar disorder was homozygous for a truncating mutation in the TDP2 gene

1 unrelated Caucasian patient with same homozygous splice site mutation in the TDP2 gene. Western blot analysis did not detect TDP2 protein in patient primary skin fibroblasts. Patient fibroblasts showed an inability to rapidly repair topoisomerase-induced DNA double-strand breaks in the nucleus and also showed a profound hypersensitivity to this type of DNA damage. Complementation of patient cells with recombinant human TDP2 restored normal rates of nuclear DSB repair.
Sources: Expert list
Mendeliome v0.787 TRMT1 Zornitza Stark Marked gene: TRMT1 as ready
Mendeliome v0.786 TRMT1 Zornitza Stark gene: TRMT1 was added
gene: TRMT1 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: TRMT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRMT1 were set to 30289604; 26308914; 21937992
Phenotypes for gene: TRMT1 were set to Mental retardation, autosomal recessive 68; OMIM #618302
Review for gene: TRMT1 was set to GREEN
Added comment: 4 families reported:
-1 consanguineous Iranian family with 5 individuals with nonsyndromic moderate to severe impaired intellectual development.
-1 consanguineous Iranian family with 3 adult brothers with global developmental delay and moderately delayed intellectual development
-2 unrelated Pakistani families with 4 patients with impaired intellectual development.
All with homozygous mutations in the TRMT1 gene which segregated with the disorder in the families, but functional studies of the variants were not performed.
Sources: Expert list
Mendeliome v0.785 SLC35A3 Zornitza Stark Marked gene: SLC35A3 as ready
Mendeliome v0.785 SLC35A3 Zornitza Stark Added comment: Comment when marking as ready: 1 family with 2 sibs, with segregation but no functional studies.

1 family with 8 affected people. The mutations segregated with the disorder in the family. Patient cells showed no normal transcript, indicating that they had no functional SLC35A3 protein. Golgi vesicles derived from patient fibroblasts showed significantly reduced transport of UDP-GlCNAc compared to controls.
Mendeliome v0.785 SLC35A3 Zornitza Stark Phenotypes for gene: SLC35A3 were changed from to Arthrogryposis, mental retardation, and seizures; OMIM #615553
Mendeliome v0.781 SLC9A7 Zornitza Stark Marked gene: SLC9A7 as ready
Mendeliome v0.780 SLC9A7 Zornitza Stark gene: SLC9A7 was added
gene: SLC9A7 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: SLC9A7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SLC9A7 were set to 30335141
Phenotypes for gene: SLC9A7 were set to Intellectual developmental disorder, X-linked 108; OMIM #301024
Review for gene: SLC9A7 was set to AMBER
Added comment: 6 males from 2 unrelated families with hemizygous missense mutation in the SLC9A7 gene. The mutation segregated with the disorder in the family. In vitro functional expression studies in CHO cells (AP-1 cells) showed that the mutation caused decreased levels of protein expression and reduced oligosaccharide maturation/glycosylation compared to wildtype, indicating impaired posttranslational processing. Subcellular localization studies indicated that protein trafficking was unaffected by the mutation. However, examination of the trans-Golgi compartment suggested a gain-of-function effect and a perturbation of glycosylation of secretory cargo. Serum transferrin studies in 1 patient suggested a glycosylation defect.
Sources: Literature
Mendeliome v0.779 KIAA1161 Zornitza Stark Marked gene: KIAA1161 as ready
Mendeliome v0.778 KIAA1161 Zornitza Stark gene: KIAA1161 was added
gene: KIAA1161 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: KIAA1161 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA1161 were set to 30656188; 30649222; 30460687; 29910000
Phenotypes for gene: KIAA1161 were set to Basal ganglia calcification, idiopathic, 7, autosomal recessive; OMIM #618317
Review for gene: KIAA1161 was set to GREEN
Added comment: Total 9 families, but no functional evidence:

12 patients from 6 unrelated Chinese families reported by Yao et al. (2018) and homozygous or compound heterozygous mutations in the MYORG gene. Functional studies of the variants and studies of patient cells were not performed, but the presence of nonsense mutations suggested a loss of function.

1 Chinese woman identified with homozygous nonsense mutation in the MYORG gene, segregated with the disorder in the family. Functional studies of the variant and studies of patient cells were not performed.

2 unrelated Middle Eastern families with homozygous mutations in the MYORG gene, which segregated with the disorder in the families. Functional studies of the variants were not performed.

4 sibs from one Turkish family with homozygous missense mutation in the MYORG gene, which segregated with the disorder in the family. Functional studies of the variant and studies of patient cells were not performed.
Sources: Literature
Mendeliome v0.777 ZC3H14 Zornitza Stark Marked gene: ZC3H14 as ready
Mendeliome v0.777 ZC3H14 Zornitza Stark Added comment: Comment when marking as ready: Two families reported.
Mendeliome v0.777 ZC3H14 Zornitza Stark Phenotypes for gene: ZC3H14 were changed from to Mental retardation, autosomal recessive 56; OMIM# 617125
Mendeliome v0.774 ZFHX3 Zornitza Stark Marked gene: ZFHX3 as ready
Mendeliome v0.774 ZFHX3 Zornitza Stark Added comment: Comment when marking as ready: Emerging evidence.
Mendeliome v0.773 KLLN Zornitza Stark Marked gene: KLLN as ready
Mendeliome v0.773 KLLN Zornitza Stark Added comment: Comment when marking as ready: Epigenetic modification of the promoter linked to Cowden syndrome.
Mendeliome v0.770 MDH1 Zornitza Stark Marked gene: MDH1 as ready
Mendeliome v0.769 MDH1 Zornitza Stark gene: MDH1 was added
gene: MDH1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: MDH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MDH1 were set to 31538237
Phenotypes for gene: MDH1 were set to epilepsy; microcephaly; intellectual disability
Review for gene: MDH1 was set to AMBER
Added comment: single consanguinous family with biallelic missense variant in this gene and epilepsy, microcephaly, ID; some functional data.
Sources: Literature
Mendeliome v0.768 ISLR2 Zornitza Stark Marked gene: ISLR2 as ready
Mendeliome v0.767 ISLR2 Zornitza Stark gene: ISLR2 was added
gene: ISLR2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: ISLR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ISLR2 were set to 30483960
Phenotypes for gene: ISLR2 were set to hydrocephalus; arthrogryposis; abdominal distension
Review for gene: ISLR2 was set to AMBER
Added comment: single consanguineous family with hydrocephalus and arthrogryposis and homozygous truncating variant, mouse model has hydrocephalus
Sources: Literature
Mendeliome v0.766 AGMO Sue White Marked gene: AGMO as ready
Mendeliome v0.764 NOTCH2NL Sue White Marked gene: NOTCH2NL as ready
Mendeliome v0.763 NOTCH2NL Sue White gene: NOTCH2NL was added
gene: NOTCH2NL was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: NOTCH2NL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NOTCH2NL were set to 31332381
Phenotypes for gene: NOTCH2NL were set to OMIM 603472 NEURONAL INTRANUCLEAR INCLUSION DISEASE; NIID
Penetrance for gene: NOTCH2NL were set to unknown
Mode of pathogenicity for gene: NOTCH2NL was set to Other
Review for gene: NOTCH2NL was set to GREEN
gene: NOTCH2NL was marked as current diagnostic
Added comment: adult onset neurodegenerative condition caused by STR expansion 5' of NOTCH2NL
Sources: Literature
Mendeliome v0.762 RFC1 Sue White Marked gene: RFC1 as ready
Mendeliome v0.761 RFC1 Sue White gene: RFC1 was added
gene: RFC1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: RFC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RFC1 were set to 30926972
Phenotypes for gene: RFC1 were set to Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome OMIM 614575
Penetrance for gene: RFC1 were set to unknown
Mode of pathogenicity for gene: RFC1 was set to Other
Review for gene: RFC1 was set to GREEN
Added comment: adult onset ataxia due to biallelic intronic STR expansion
Sources: Literature
Mendeliome v0.757 TRAC Zornitza Stark Marked gene: TRAC as ready
Mendeliome v0.755 NSMCE3 Zornitza Stark Marked gene: NSMCE3 as ready
Mendeliome v0.751 MYSM1 Zornitza Stark Marked gene: MYSM1 as ready
Mendeliome v0.750 MYSM1 Zornitza Stark gene: MYSM1 was added
gene: MYSM1 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: MYSM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYSM1 were set to 4288411; 28115216; 26220525
Phenotypes for gene: MYSM1 were set to Bone marrow failure syndrome 4, MIM#618116
Review for gene: MYSM1 was set to GREEN
Added comment: early-onset anaemia, leukopaenia, and decreased B cells, may have thrombocytopaenia or variable additional non-haematologic features, such as facial dysmorphism, skeletal anomalies, and mild developmental delay
Sources: Expert list
Mendeliome v0.749 STAG2 Zornitza Stark Marked gene: STAG2 as ready
Mendeliome v0.748 STAG2 Zornitza Stark gene: STAG2 was added
gene: STAG2 was added to Mendeliome_VCGS. Sources: Other
Mode of inheritance for gene: STAG2 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: STAG2 were set to 30765867; 28296084; 30447054; 29263825; 30158690
Phenotypes for gene: STAG2 were set to Mullegama-Klein-Martinez syndrome, MIM#301022
Review for gene: STAG2 was set to GREEN
Added comment: 12 unrelated families reported both males and females affected.
Sources: Other
Mendeliome v0.747 IRF3 Zornitza Stark Marked gene: IRF3 as ready
Mendeliome v0.743 MESD Zornitza Stark Marked gene: MESD as ready
Mendeliome v0.741 EHHADH Zornitza Stark Marked gene: EHHADH as ready
Mendeliome v0.741 EHHADH Zornitza Stark Phenotypes for gene: EHHADH were changed from to Fanconi renotubular syndrome 3; OMIM#615605
Mendeliome v0.738 EHHADH Zornitza Stark reviewed gene: EHHADH: Rating: RED; Mode of pathogenicity: None; Publications: 24401050; Phenotypes: Fanconi renotubular syndrome 3, OMIM#615605; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.738 VTN Zornitza Stark Marked gene: VTN as ready
Mendeliome v0.732 ARHGAP24 Zornitza Stark Marked gene: ARHGAP24 as ready
Mendeliome v0.732 ARHGAP24 Zornitza Stark Gene: arhgap24 has been classified as Red List (Low Evidence).
Mendeliome v0.732 ARHGAP24 Zornitza Stark Publications for gene: ARHGAP24 were set to
Mendeliome v0.731 ARHGAP24 Zornitza Stark Phenotypes for gene: ARHGAP24 were changed from to FSGS
Mendeliome v0.730 ARHGAP24 Zornitza Stark Mode of inheritance for gene: ARHGAP24 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.729 ARHGAP24 Zornitza Stark Classified gene: ARHGAP24 as Red List (low evidence)
Mendeliome v0.729 ARHGAP24 Zornitza Stark Gene: arhgap24 has been classified as Red List (Low Evidence).
Mendeliome v0.728 ARHGAP24 Zornitza Stark reviewed gene: ARHGAP24: Rating: RED; Mode of pathogenicity: None; Publications: 21911940; Phenotypes: FSGS; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.728 CD2AP Zornitza Stark Marked gene: CD2AP as ready
Mendeliome v0.724 ITSN1 Zornitza Stark Marked gene: ITSN1 as ready
Mendeliome v0.723 ITSN1 Zornitza Stark gene: ITSN1 was added
gene: ITSN1 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: ITSN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITSN1 were set to 29773874
Review for gene: ITSN1 was set to GREEN
Added comment: 3 unrelated families with rare ITSN1 variants and SRNS/CNS or SSNS.
Sources: Expert list
Mendeliome v0.722 LAMA5 Zornitza Stark Marked gene: LAMA5 as ready
Mendeliome v0.721 TNS2 Zornitza Stark Marked gene: TNS2 as ready
Mendeliome v0.718 DNASE2 Zornitza Stark Marked gene: DNASE2 as ready
Mendeliome v0.717 DNASE2 Zornitza Stark gene: DNASE2 was added
gene: DNASE2 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: DNASE2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNASE2 were set to 29259162; 31775019
Phenotypes for gene: DNASE2 were set to Auto-inflammatory disorder; splenomegaly; glomerulonephritis; liver fibrosis; arthritis; HLH
Review for gene: DNASE2 was set to GREEN
Added comment: Inflammatory disorder characterized by splenomegaly, glomerulonephritis, liver fibrosis, circulating anti-DNA autoantibodies, and progressive arthritis. Three families and functional data.
Sources: Expert list
Mendeliome v0.716 IGHM Zornitza Stark Marked gene: IGHM as ready
Mendeliome v0.714 ANGPTL6 Zornitza Stark Marked gene: ANGPTL6 as ready
Mendeliome v0.709 NUP214 Sue White gene: NUP214 was added
gene: NUP214 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: NUP214 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP214 were set to 31178128
Phenotypes for gene: NUP214 were set to epileptic encephalopathy; developmental regression; microcephaly
Penetrance for gene: NUP214 were set to Complete
Review for gene: NUP214 was set to GREEN
gene: NUP214 was marked as current diagnostic
Added comment: Sources: Literature
Mendeliome v0.707 ATP2B2 Sue White gene: ATP2B2 was added
gene: ATP2B2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: ATP2B2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ATP2B2 were set to progressive sensorineural deafness
Penetrance for gene: ATP2B2 were set to unknown
Review for gene: ATP2B2 was set to GREEN
gene: ATP2B2 was marked as current diagnostic
Added comment: Sources: Literature
Mendeliome v0.706 NPM1 Sue White Marked gene: NPM1 as ready
Mendeliome v0.705 NPM1 Sue White gene: NPM1 was added
gene: NPM1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: NPM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NPM1 were set to 31570891
Phenotypes for gene: NPM1 were set to radial ray defects; short stature; nail dsytrophy; bone marrow failure
Penetrance for gene: NPM1 were set to unknown
Review for gene: NPM1 was set to GREEN
Added comment: heterozygous variants cause dyskeratosis congenita
Sources: Literature
Mendeliome v0.704 AP2M1 Zornitza Stark Marked gene: AP2M1 as ready
Mendeliome v0.703 AP2M1 Zornitza Stark gene: AP2M1 was added
gene: AP2M1 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: AP2M1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AP2M1 were set to 31104773
Phenotypes for gene: AP2M1 were set to Intellectual developmental disorder 60 with seizures, MIM# 618587
Review for gene: AP2M1 was set to GREEN
Added comment: Four unrelated individuals reported, recurrent variant, NM_004068.3:c.508C>T or p.Arg170Trp.
Sources: Expert list
Mendeliome v0.701 ASXL3 Zornitza Stark Marked gene: ASXL3 as ready
Mendeliome v0.698 RHOA Sue White Marked gene: RHOA as ready
Mendeliome v0.697 RHOA Sue White gene: RHOA was added
gene: RHOA was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: RHOA was set to Other
Publications for gene: RHOA were set to 31570889
Phenotypes for gene: RHOA were set to normal cognition; leukoencephalopathy; micro-ophthalmia; strabismus; linear hypopigmentation; malar hypoplasia; downslanting palpebral fissures; microstomia
Penetrance for gene: RHOA were set to Complete
Review for gene: RHOA was set to GREEN
gene: RHOA was marked as current diagnostic
Added comment: mosaic heterozygous missense variants cause linear hypopigmentation, brain MRI changes with normal cognition, ocular and acral changes
Sources: Literature
Mendeliome v0.696 TNFRSF1A Zornitza Stark Marked gene: TNFRSF1A as ready
Mendeliome v0.693 SEPT9 Zornitza Stark Marked gene: SEPT9 as ready
Mendeliome v0.693 SEPT9 Zornitza Stark Phenotypes for gene: SEPT9 were changed from to Amyotrophy, hereditary neuralgic, MIM# 162100
Mendeliome v0.692 SEPT9 Zornitza Stark reviewed gene: SEPT9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Amyotrophy, hereditary neuralgic, MIM# 162100; Mode of inheritance: None
Mendeliome v0.692 PUS10 Zornitza Stark Marked gene: PUS10 as ready
Mendeliome v0.692 PUS10 Zornitza Stark Added comment: Comment when marking as ready: Agree, no evidence for Mendelian gene-disease association.
Mendeliome v0.691 DNMT3A Zornitza Stark Marked gene: DNMT3A as ready
Mendeliome v0.691 DNMT3A Zornitza Stark Phenotypes for gene: DNMT3A were changed from Tatton-Brown-Rahman syndrome, OMIM# 615879; primordial dwarfism with intellectual disability and microcephalyTatton-Brown-Rahman syndrome, OMIM# 615879; primordial dwarfism with intellectual disability and microcephaly to Tatton-Brown-Rahman syndrome, OMIM# 615879; primordial dwarfism with intellectual disability and microcephaly
Mendeliome v0.690 DNMT3A Zornitza Stark Phenotypes for gene: DNMT3A were changed from Tatton-Brown-Rahman SYNDROME, OMIM# 615879; primordial dwarfism with intellectual disability and microcephalyTatton-Brown-Rahman syndrome, OMIM# 615879; primordial dwarfism with intellectual disability and microcephaly to Tatton-Brown-Rahman syndrome, OMIM# 615879; primordial dwarfism with intellectual disability and microcephalyTatton-Brown-Rahman syndrome, OMIM# 615879; primordial dwarfism with intellectual disability and microcephaly
Mendeliome v0.689 DNMT3A Zornitza Stark Phenotypes for gene: DNMT3A were changed from to Tatton-Brown-Rahman SYNDROME, OMIM# 615879; primordial dwarfism with intellectual disability and microcephalyTatton-Brown-Rahman syndrome, OMIM# 615879; primordial dwarfism with intellectual disability and microcephaly
Mendeliome v0.685 DNMT3A Zornitza Stark reviewed gene: DNMT3A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30478443, 24614070; Phenotypes: Tatton-Brown-Rahman SYNDROME, OMIM# 615879, primordial dwarfism with intellectual disability and microcephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.685 TRIM28 Zornitza Stark Marked gene: TRIM28 as ready
Mendeliome v0.684 TRIM28 Zornitza Stark gene: TRIM28 was added
gene: TRIM28 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: TRIM28 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRIM28 were set to 30694527
Phenotypes for gene: TRIM28 were set to Wilm's tumour
Review for gene: TRIM28 was set to GREEN
Added comment: Eleven individuals with germline variants identified; plus one somatic. Exome sequencing on eight tumor DNA samples from six individuals showed loss-of-heterozygosity (LOH) of the TRIM28-locus by mitotic recombination in seven tumors, suggesting that TRIM28 functions as a tumor suppressor gene in Wilms tumor development.
Sources: Literature
Mendeliome v0.683 YY1AP1 Zornitza Stark Marked gene: YY1AP1 as ready
Mendeliome v0.683 YY1AP1 Zornitza Stark Phenotypes for gene: YY1AP1 were changed from to Grange syndrome, MIM# 602531; stenosis/occlusion of multiple arteries
Mendeliome v0.681 YY1AP1 Zornitza Stark reviewed gene: YY1AP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Grange syndrome, MIM# 602531, stenosis/occlusion of multiple arteries; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.681 CBWD1 Zornitza Stark Marked gene: CBWD1 as ready
Mendeliome v0.680 DEF6 Zornitza Stark Marked gene: DEF6 as ready
Mendeliome v0.678 SLC2A8 Zornitza Stark Marked gene: SLC2A8 as ready
Mendeliome v0.678 SLC2A8 Zornitza Stark Added comment: Comment when marking as ready: Cannot find evidence for Mendelian gene-disease association.
Mendeliome v0.677 SETD5 Zornitza Stark Marked gene: SETD5 as ready
Mendeliome v0.677 SETD5 Zornitza Stark Added comment: Comment when marking as ready: PMID: 29484850: Review of all literature reporting SETD5 (table 1). Out of 42 patients described in these papers, 71.4% have motor impairment/delay, 69.0% speech impairment/delay, 23.8% eplilepsy/seizures, 38% congenital heart defects, 95.2% facial dysmorphism, 21.4% hand stereotypies/ritualised behaviour, 19% impaired vision, 42.8% muscle hypotonia and 28.6% polydactyly.
Mendeliome v0.674 ACTG2 Zornitza Stark Marked gene: ACTG2 as ready
Mendeliome v0.672 C19orf70 Zornitza Stark Marked gene: C19orf70 as ready
Mendeliome v0.670 MIPEP Zornitza Stark Marked gene: MIPEP as ready
Mendeliome v0.667 PLEKHG2 Zornitza Stark Marked gene: PLEKHG2 as ready
Mendeliome v0.667 PLEKHG2 Zornitza Stark gene: PLEKHG2 was added
gene: PLEKHG2 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: PLEKHG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLEKHG2 were set to 26573021
Phenotypes for gene: PLEKHG2 were set to Leukodystrophy and acquired microcephaly with or without dystonia, MIM# 616763
Review for gene: PLEKHG2 was set to RED
Added comment: Five individuals from two unrelated families reported, same homozygous missense variant.
Sources: Expert list
Mendeliome v0.666 UFM1 Zornitza Stark Marked gene: UFM1 as ready
Mendeliome v0.663 HIKESHI Zornitza Stark Marked gene: HIKESHI as ready
Mendeliome v0.660 AIMP2 Zornitza Stark gene: AIMP2 was added
gene: AIMP2 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: AIMP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AIMP2 were set to 29215095
Phenotypes for gene: AIMP2 were set to Leukodystrophy, hypomyelinating, 17 618006
Review for gene: AIMP2 was set to RED
Added comment: Two apparently unrelated consanguineous families, however same homozygous variant identified in both. Affected individuals had early-onset multifocal seizures, spasticity, poor overall growth, and microcephaly (up to -10 SD). Brain imaging showed multiple abnormalities, including cerebral and cerebellar atrophy, thin corpus callosum, abnormal signals in the basal ganglia, and features suggesting hypo- or demyelination
Sources: Expert list
Mendeliome v0.659 TMEM63A Zornitza Stark Marked gene: TMEM63A as ready
Mendeliome v0.658 TMEM63A Zornitza Stark gene: TMEM63A was added
gene: TMEM63A was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: TMEM63A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TMEM63A were set to 31587869
Phenotypes for gene: TMEM63A were set to Leukodystrophy, hypomyelinating, 19, transient infantile, MIM# 618688
Review for gene: TMEM63A was set to GREEN
Added comment: Four unrelated families reported; in three individuals, the variant was de novo, and inherited from a deceased parent in the fourth.
Sources: Expert list
Mendeliome v0.654 FZD3 Zornitza Stark Marked gene: FZD3 as ready
Mendeliome v0.652 H3F3B Zornitza Stark commented on gene: H3F3B: Elizabeth J Bhoj, H3F3A/B Consortium, Hakon H. Hakonarson.: Mutations In H3f3a And H3f3b Encoding Histone 3.3: Report Of 26 Patients With Neurodevelopmental And Congenital Manifestations. American Society of Human Genetics, Orlando, FL October 2017 Notes: Platform Presentation.
Mendeliome v0.652 H3F3A Zornitza Stark Marked gene: H3F3A as ready
Mendeliome v0.651 KAT5 Zornitza Stark Marked gene: KAT5 as ready
Mendeliome v0.651 KAT5 Zornitza Stark Added comment: Comment when marking as ready: Cannot find evidence for Mendelian gene-disease association.
Mendeliome v0.650 ROBO4 Zornitza Stark Marked gene: ROBO4 as ready
Mendeliome v0.648 MYMK Zornitza Stark Marked gene: MYMK as ready
Mendeliome v0.647 MYMK Zornitza Stark gene: MYMK was added
gene: MYMK was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: MYMK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYMK were set to 28681861
Phenotypes for gene: MYMK were set to Carey-Fineman-Ziter syndrome; OMIM #254940
Review for gene: MYMK was set to GREEN
Added comment: Sources: Expert list
Mendeliome v0.646 EDC3 Zornitza Stark Marked gene: EDC3 as ready
Mendeliome v0.646 EDC3 Zornitza Stark gene: EDC3 was added
gene: EDC3 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: EDC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EDC3 were set to 29685133; 25701870
Phenotypes for gene: EDC3 were set to Mental retardation, autosomal recessive 50, MIM# 616460
Review for gene: EDC3 was set to RED
Added comment: Single family reported; some functional data.
Sources: Expert list
Mendeliome v0.645 PUS3 Zornitza Stark reviewed gene: PUS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30308082, 28454995, 27055666, 30697592, 31444731; Phenotypes: Mental retardation, autosomal recessive 55, MIM# 617051; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.645 EIF3F Zornitza Stark Marked gene: EIF3F as ready
Mendeliome v0.644 EIF3F Zornitza Stark gene: EIF3F was added
gene: EIF3F was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: EIF3F was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF3F were set to 30409806
Phenotypes for gene: EIF3F were set to Mental retardation, autosomal recessive 67, MIM# 618295
Review for gene: EIF3F was set to GREEN
Added comment: Nine individuals from 7 families reported, all homozygous for the same missense variant, p.(Phe232Val). This variant is present at 0.12% frequency in non-Finnish Europeans in gnomad (no homozygotes).
Sources: Expert list
Mendeliome v0.643 RUSC2 Zornitza Stark Marked gene: RUSC2 as ready
Mendeliome v0.643 RUSC2 Zornitza Stark Phenotypes for gene: RUSC2 were changed from to Mental retardation, autosomal recessive 61, MIM# 617773
Mendeliome v0.639 RUSC2 Zornitza Stark reviewed gene: RUSC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 27612186; Phenotypes: Mental retardation, autosomal recessive 61, MIM# 617773; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.639 RSRC1 Zornitza Stark Marked gene: RSRC1 as ready
Mendeliome v0.637 METTL5 Zornitza Stark Marked gene: METTL5 as ready
Mendeliome v0.635 CXorf56 Zornitza Stark Marked gene: CXorf56 as ready
Mendeliome v0.635 CXorf56 Zornitza Stark gene: CXorf56 was added
gene: CXorf56 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: CXorf56 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: CXorf56 were set to 29374277
Phenotypes for gene: CXorf56 were set to Mental retardation, X-linked 107, MIM# 301013
Review for gene: CXorf56 was set to RED
Added comment: Single multigenerational family reported.
Sources: Expert list
Mendeliome v0.634 USP27X Zornitza Stark Marked gene: USP27X as ready
Mendeliome v0.633 USP27X Zornitza Stark gene: USP27X was added
gene: USP27X was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: USP27X was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: USP27X were set to 25644381
Phenotypes for gene: USP27X were set to Mental retardation, X-linked 105, MIM#300984
Review for gene: USP27X was set to AMBER
Added comment: Four individuals from two unrelated families reported.
Sources: Expert list
Mendeliome v0.632 KLHL15 Zornitza Stark Marked gene: KLHL15 as ready
Mendeliome v0.631 KLHL15 Zornitza Stark gene: KLHL15 was added
gene: KLHL15 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: KLHL15 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: KLHL15 were set to 25644381; 24817631
Phenotypes for gene: KLHL15 were set to Mental retardation, X-linked 103, MIM#300982
Review for gene: KLHL15 was set to AMBER
Added comment: Two families described: variants maternally inherited in both, one deletion, the other truncating.
Sources: Literature
Mendeliome v0.630 ODC1 Zornitza Stark Marked gene: ODC1 as ready
Mendeliome v0.629 ODC1 Zornitza Stark gene: ODC1 was added
gene: ODC1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: ODC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ODC1 were set to 30475435
Phenotypes for gene: ODC1 were set to Intellectual disability; macrocephaly; dysmorphism
Mode of pathogenicity for gene: ODC1 was set to Other
Review for gene: ODC1 was set to GREEN
Added comment: Four individuals with de novo GoF variants in this gene reported.
Sources: Literature
Mendeliome v0.628 RPIA Zornitza Stark Marked gene: RPIA as ready
Mendeliome v0.625 TRPM3 Zornitza Stark Marked gene: TRPM3 as ready
Mendeliome v0.624 TRPM3 Zornitza Stark gene: TRPM3 was added
gene: TRPM3 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: TRPM3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRPM3 were set to 31278393
Phenotypes for gene: TRPM3 were set to Intellectual disability; epilepsy
Review for gene: TRPM3 was set to GREEN
Added comment: 8 unrelated individuals with de novo variants in this gene. Recurrent variant p.(Val837Met) identified in 7/8.
Sources: Literature
Mendeliome v0.623 NUS1 Zornitza Stark Marked gene: NUS1 as ready
Mendeliome v0.620 UGP2 Zornitza Stark Marked gene: UGP2 as ready
Mendeliome v0.619 UGP2 Zornitza Stark gene: UGP2 was added
gene: UGP2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: UGP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UGP2 were set to 31820119
Phenotypes for gene: UGP2 were set to Epileptic encephalopathy; intellectual disability; microcephaly
Review for gene: UGP2 was set to GREEN
Added comment: 22 individuals from 15 families reported with the same homozygous missense variant in this gene, chr2:64083454A > G, which causes a disruption of the start codon in the shorter isoform, which is expressed in brain.
Sources: Literature
Mendeliome v0.618 ADRA2B Zornitza Stark Marked gene: ADRA2B as ready
Mendeliome v0.618 ADRA2B Zornitza Stark Added comment: Comment when marking as ready: Comment when marking as ready: Association has in fact been REFUTED by Corbett et al 2019 (PMID:31664034, who identified an alternative cause in the original families.
Mendeliome v0.616 AGO3 Zornitza Stark Marked gene: AGO3 as ready
Mendeliome v0.615 AGO3 Zornitza Stark Marked gene: AGO3 as ready
Mendeliome v0.611 PIGP Zornitza Stark Marked gene: PIGP as ready
Mendeliome v0.610 PIGP Zornitza Stark gene: PIGP was added
gene: PIGP was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: PIGP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGP were set to 31139695
Phenotypes for gene: PIGP were set to Epileptic encephalopathy, early infantile, 55, MIM# 617599
Review for gene: PIGP was set to AMBER
Added comment: Three individuals from two unrelated families reported.
Sources: Expert list
Mendeliome v0.609 NEUROD2 Zornitza Stark Marked gene: NEUROD2 as ready
Mendeliome v0.608 NEUROD2 Zornitza Stark gene: NEUROD2 was added
gene: NEUROD2 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: NEUROD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NEUROD2 were set to 30323019
Phenotypes for gene: NEUROD2 were set to Epileptic encephalopathy, early infantile, 72, MIM# 618374
Review for gene: NEUROD2 was set to GREEN
Added comment: Two unrelated individuals with de novo missense variants in this gene, animal model.
Sources: Expert list
Mendeliome v0.607 GOT2 Zornitza Stark Marked gene: GOT2 as ready
Mendeliome v0.606 GOT2 Zornitza Stark gene: GOT2 was added
gene: GOT2 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: GOT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GOT2 were set to 31422819
Phenotypes for gene: GOT2 were set to Epileptic encephalopathy, early infantile, 82, MIM# 618721
Review for gene: GOT2 was set to GREEN
Added comment: Four individuals from three unrelated families reported. Treatment with pyridoxine and serine ameliorated the phenotype.
Sources: Expert list
Mendeliome v0.605 GLIS2 Zornitza Stark Marked gene: GLIS2 as ready
Mendeliome v0.600 IFT57 Zornitza Stark Marked gene: IFT57 as ready
Mendeliome v0.596 IFT74 Zornitza Stark Marked gene: IFT74 as ready
Mendeliome v0.595 IFT74 Zornitza Stark gene: IFT74 was added
gene: IFT74 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: IFT74 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT74 were set to 27486776
Phenotypes for gene: IFT74 were set to Bardet-Biedl syndrome 20, MIM# 617119
Review for gene: IFT74 was set to AMBER
Added comment: Single family and functional data.
Sources: Expert list
Mendeliome v0.594 IFT81 Zornitza Stark Marked gene: IFT81 as ready
Mendeliome v0.594 IFT81 Zornitza Stark Added comment: Comment when marking as ready: Three families with skeletal dysplasia, one with nephronophthisis, one with eye phenotype.
Mendeliome v0.588 PDE6D Zornitza Stark Marked gene: PDE6D as ready
Mendeliome v0.588 PDE6D Zornitza Stark Added comment: Comment when marking as ready: Second family identified in the literature.
Mendeliome v0.581 SLC41A1 Zornitza Stark Marked gene: SLC41A1 as ready
Mendeliome v0.577 XPNPEP3 Zornitza Stark Marked gene: XPNPEP3 as ready
Mendeliome v0.573 ZNF423 Zornitza Stark Marked gene: ZNF423 as ready
Mendeliome v0.569 PIGQ Zornitza Stark Marked gene: PIGQ as ready
Mendeliome v0.568 PIGQ Zornitza Stark gene: PIGQ was added
gene: PIGQ was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: PIGQ was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGQ were set to 25558065; 24463883; 31148362
Phenotypes for gene: PIGQ were set to Epileptic encephalopathy, early infantile, 77, MIM# 618548
Review for gene: PIGQ was set to GREEN
Added comment: Three unrelated families reported.
Sources: Expert list
Mendeliome v0.567 NTRK2 Zornitza Stark Marked gene: NTRK2 as ready
Mendeliome v0.567 NTRK2 Zornitza Stark Phenotypes for gene: NTRK2 were changed from to Epileptic encephalopathy, early infantile, 58, MIM# 617830; Obesity, hyperphagia, and developmental delay, MIM# 613886
Mendeliome v0.565 NTRK2 Zornitza Stark reviewed gene: NTRK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29100083, 15494731, 27884935, 29100083; Phenotypes: Epileptic encephalopathy, early infantile, 58, MIM# 617830, Obesity, hyperphagia, and developmental delay, MIM# 613886; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.565 ADAM22 Zornitza Stark gene: ADAM22 was added
gene: ADAM22 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: ADAM22 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAM22 were set to 27066583; 30237576
Phenotypes for gene: ADAM22 were set to Epileptic encephalopathy, early infantile, 61, MIM# 617933
Review for gene: ADAM22 was set to AMBER
Added comment: Two families reported; the second one as part of a large consanguineous cohort.
Sources: Expert list
Mendeliome v0.564 PHACTR1 Zornitza Stark Marked gene: PHACTR1 as ready
Mendeliome v0.563 PHACTR1 Zornitza Stark gene: PHACTR1 was added
gene: PHACTR1 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: PHACTR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PHACTR1 were set to 30256902
Phenotypes for gene: PHACTR1 were set to Epileptic encephalopathy, early infantile, 70, MIM# 618298
Review for gene: PHACTR1 was set to GREEN
Added comment: Three unrelated individuals reported with de novo variants in this gene.
Sources: Expert list
Mendeliome v0.562 GABRB1 Zornitza Stark Marked gene: GABRB1 as ready
Mendeliome v0.561 GABRB1 Zornitza Stark gene: GABRB1 was added
gene: GABRB1 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: GABRB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABRB1 were set to 23934111; 27273810; 31618474
Phenotypes for gene: GABRB1 were set to Epileptic encephalopathy, early infantile, 45, MIM# 617153
Review for gene: GABRB1 was set to GREEN
Added comment: Three individuals reported, two as part of large epilepsy cohorts.
Sources: Expert list
Mendeliome v0.560 GABRA2 Zornitza Stark Marked gene: GABRA2 as ready
Mendeliome v0.560 GABRA2 Zornitza Stark Phenotypes for gene: GABRA2 were changed from to Epileptic encephalopathy, early infantile, 78, MIM# 618557
Mendeliome v0.557 GABRA2 Zornitza Stark reviewed gene: GABRA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29422393; Phenotypes: Epileptic encephalopathy, early infantile, 78, MIM# 618557; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.557 GUF1 Zornitza Stark Marked gene: GUF1 as ready
Mendeliome v0.557 GUF1 Zornitza Stark gene: GUF1 was added
gene: GUF1 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: GUF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GUF1 were set to 26486472
Phenotypes for gene: GUF1 were set to Epileptic encephalopathy, early infantile, 40, MIM# 617065
Review for gene: GUF1 was set to RED
Added comment: Single family reported with homozygous missense in three sibs.
Sources: Expert list
Mendeliome v0.556 CPLX1 Zornitza Stark Marked gene: CPLX1 as ready
Mendeliome v0.555 CPLX1 Zornitza Stark gene: CPLX1 was added
gene: CPLX1 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: CPLX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPLX1 were set to 26539891; 28422131
Phenotypes for gene: CPLX1 were set to Epileptic encephalopathy, early infantile, 63, MIM# 617976
Review for gene: CPLX1 was set to GREEN
Added comment: Five individuals from three unrelated families reported in larger neurodevelopmental cohorts.
Sources: Expert list
Mendeliome v0.554 RNF13 Zornitza Stark Marked gene: RNF13 as ready
Mendeliome v0.553 RNF13 Zornitza Stark gene: RNF13 was added
gene: RNF13 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: RNF13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RNF13 were set to 30595371
Phenotypes for gene: RNF13 were set to Epileptic encephalopathy, early infantile, 73, MIM# 618379
Mode of pathogenicity for gene: RNF13 was set to Other
Review for gene: RNF13 was set to GREEN
Added comment: Three unrelated individuals with de novo gain-of-function variants in this gene reported; severe neurodegenerative disorder, seizures are a prominent part of the phenotype.
Sources: Literature
Mendeliome v0.552 GLS Zornitza Stark Marked gene: GLS as ready
Mendeliome v0.551 GLS Zornitza Stark gene: GLS was added
gene: GLS was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: GLS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLS were set to 30575854; 30970188
Phenotypes for gene: GLS were set to Epileptic encephalopathy, early infantile, 71, MIM# 618328; Global developmental delay, progressive ataxia, and elevated glutamine, MIM# 618412
Review for gene: GLS was set to GREEN
Added comment: Three individuals from two unrelated families reported with early neonatal refractory seizures, structural brain abnormalities and oedema; significantly increased glutamine levels (PMID: 30575854).

Another three unrelated individuals described with compound het variants, one of which is a triplet expansion in the 5' UTR (PMID: 30970188).
Sources: Expert list
Mendeliome v0.550 CAD Zornitza Stark Marked gene: CAD as ready
Mendeliome v0.549 CAD Zornitza Stark gene: CAD was added
gene: CAD was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: CAD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAD were set to 28007989; 25678555
Phenotypes for gene: CAD were set to Epileptic encephalopathy, early infantile, 50, MIM# 616457
Review for gene: CAD was set to GREEN
Added comment: Five individuals from four unrelated families reported, seizures are a prominent part of the phenotype of this progressive neurometabolic condition.
Sources: Expert list
Mendeliome v0.548 PARS2 Zornitza Stark Marked gene: PARS2 as ready
Mendeliome v0.548 PARS2 Zornitza Stark Gene: pars2 has been classified as Green List (High Evidence).
Mendeliome v0.548 PARS2 Zornitza Stark Phenotypes for gene: PARS2 were changed from to Epileptic encephalopathy, early infantile, 75, MIM# 618437
Mendeliome v0.547 PARS2 Zornitza Stark Publications for gene: PARS2 were set to
Mendeliome v0.546 PARS2 Zornitza Stark Mode of inheritance for gene: PARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.545 PARS2 Zornitza Stark reviewed gene: PARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29410512, 28077841, 25629079, 29915213; Phenotypes: Epileptic encephalopathy, early infantile, 75, MIM# 618437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.545 CHRNA3 Zornitza Stark Marked gene: CHRNA3 as ready
Mendeliome v0.542 NADSYN1 Zornitza Stark Marked gene: NADSYN1 as ready
Mendeliome v0.541 NADSYN1 Zornitza Stark gene: NADSYN1 was added
gene: NADSYN1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: NADSYN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NADSYN1 were set to 31883644
Phenotypes for gene: NADSYN1 were set to Multiple congenital abnormalities; absent kidneys; cardiac; limb; vertebral
Review for gene: NADSYN1 was set to GREEN
Added comment: Five individuals from four unrelated families.
Sources: Literature
Mendeliome v0.540 PPP1R12A Zornitza Stark Marked gene: PPP1R12A as ready
Mendeliome v0.540 PPP1R12A Zornitza Stark Added comment: Comment when marking as ready: Now published, 12 individuals, upgraded to Green.
Mendeliome v0.537 UQCRFS1 Zornitza Stark Marked gene: UQCRFS1 as ready
Mendeliome v0.536 UQCRFS1 Zornitza Stark gene: UQCRFS1 was added
gene: UQCRFS1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: UQCRFS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UQCRFS1 were set to 31883641
Phenotypes for gene: UQCRFS1 were set to Mitochondrial Complex III deficiency; lactic acidosis; fetal bradycardia; hypertrophic cardiomyopathy; alopecia totalis
Review for gene: UQCRFS1 was set to GREEN
Added comment: Two unrelated families reported plus functional evidence.
Sources: Literature
Mendeliome v0.535 SPATC1L Zornitza Stark Marked gene: SPATC1L as ready
Mendeliome v0.534 SPATC1L Zornitza Stark gene: SPATC1L was added
gene: SPATC1L was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: SPATC1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPATC1L were set to 30177775
Phenotypes for gene: SPATC1L were set to Deafness
Review for gene: SPATC1L was set to AMBER
Added comment: Two families with compound het variants, and one family with heterozygous variant and dominant pattern of hearing loss described, some functional data.
Sources: Expert list
Mendeliome v0.533 WBP2 Zornitza Stark Marked gene: WBP2 as ready
Mendeliome v0.532 WBP2 Zornitza Stark gene: WBP2 was added
gene: WBP2 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: WBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WBP2 were set to 26881968
Phenotypes for gene: WBP2 were set to Deafness, autosomal recessive 107, MIM# 617639
Review for gene: WBP2 was set to AMBER
Added comment: Two unrelated families identified in a large cohort; supportive animal model data.
Sources: Expert list
Mendeliome v0.531 TMEM132E Zornitza Stark Marked gene: TMEM132E as ready
Mendeliome v0.529 GRAP Zornitza Stark Marked gene: GRAP as ready
Mendeliome v0.529 GRAP Zornitza Stark gene: GRAP was added
gene: GRAP was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: GRAP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRAP were set to 30610177
Phenotypes for gene: GRAP were set to Deafness, autosomal recessive 114, MIM# 618456
Review for gene: GRAP was set to RED
Added comment: Two apparently unrelated Turkish families reported, however same homozygous missense variant, and SNP analysis indicated identity by descent.
Sources: Expert list
Mendeliome v0.528 SPNS2 Zornitza Stark Marked gene: SPNS2 as ready
Mendeliome v0.527 SPNS2 Zornitza Stark gene: SPNS2 was added
gene: SPNS2 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: SPNS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPNS2 were set to 25356849
Phenotypes for gene: SPNS2 were set to Deafness, autosomal recessive 115, MIM# 618457
Review for gene: SPNS2 was set to AMBER
Added comment: Single family reported, mouse model shows progressive hearing loss.
Sources: Expert list
Mendeliome v0.526 ESRP1 Zornitza Stark Marked gene: ESRP1 as ready
Mendeliome v0.524 SLC26A5 Zornitza Stark Marked gene: SLC26A5 as ready
Mendeliome v0.520 PPIP5K2 Zornitza Stark Marked gene: PPIP5K2 as ready
Mendeliome v0.519 PPIP5K2 Zornitza Stark gene: PPIP5K2 was added
gene: PPIP5K2 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: PPIP5K2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPIP5K2 were set to 29590114
Phenotypes for gene: PPIP5K2 were set to Deafness, autosomal recessive 100, MIM# 618422
Review for gene: PPIP5K2 was set to AMBER
Added comment: Two apparently unrelated families with multiple affecteds segregating a homozygous missense variant; mouse model.
Sources: Expert list
Mendeliome v0.518 ROR1 Zornitza Stark Marked gene: ROR1 as ready
Mendeliome v0.517 ROR1 Zornitza Stark gene: ROR1 was added
gene: ROR1 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: ROR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ROR1 were set to 27162350
Phenotypes for gene: ROR1 were set to Deafness, autosomal recessive 108, MIM# 617654
Review for gene: ROR1 was set to AMBER
Added comment: Single family, sibs with homozygous missense variant; mouse model.
Sources: Expert list
Mendeliome v0.516 RIPOR2 Zornitza Stark Marked gene: RIPOR2 as ready
Mendeliome v0.514 PROC Zornitza Stark Marked gene: PROC as ready
Mendeliome v0.512 CLDN9 Zornitza Stark Marked gene: CLDN9 as ready
Mendeliome v0.510 TOP2B Zornitza Stark Marked gene: TOP2B as ready
Mendeliome v0.509 TOP2B Zornitza Stark gene: TOP2B was added
gene: TOP2B was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: TOP2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TOP2B were set to 31198993
Phenotypes for gene: TOP2B were set to Autosomal dominant deafness
Review for gene: TOP2B was set to AMBER
Added comment: One multigenerational family where variant in this gene segregated; two additional variants identified in a cohort; supportive animal model data.
Sources: Literature
Mendeliome v0.508 AP1B1 Zornitza Stark Marked gene: AP1B1 as ready
Mendeliome v0.507 AP1B1 Zornitza Stark gene: AP1B1 was added
gene: AP1B1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: AP1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP1B1 were set to 31630788; 31630791
Phenotypes for gene: AP1B1 were set to Intellectual disability; enteropathy; deafness; ichthyosis; keratoderma
Review for gene: AP1B1 was set to GREEN
Added comment: Four unrelated families with bi-allelic LoF variants in this gene.
Sources: Literature
Mendeliome v0.506 ADCY1 Zornitza Stark Marked gene: ADCY1 as ready
Mendeliome v0.502 BDP1 Zornitza Stark Marked gene: BDP1 as ready
Mendeliome v0.494 DIABLO Zornitza Stark Marked gene: DIABLO as ready
Mendeliome v0.490 DIAPH3 Zornitza Stark Marked gene: DIAPH3 as ready
Mendeliome v0.486 DMXL2 Zornitza Stark Marked gene: DMXL2 as ready
Mendeliome v0.485 DMXL2 Zornitza Stark gene: DMXL2 was added
gene: DMXL2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: DMXL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DMXL2 were set to 31688942; 30237576
Phenotypes for gene: DMXL2 were set to Epileptic encephalopathy, early infantile, 81, MIM# 618663
Review for gene: DMXL2 was set to GREEN
Added comment: Four unrelated families reported.
Sources: Literature
Mendeliome v0.484 ELMOD3 Zornitza Stark Marked gene: ELMOD3 as ready
Mendeliome v0.480 EPS8L2 Zornitza Stark Marked gene: EPS8L2 as ready
Mendeliome v0.478 GRXCR2 Zornitza Stark Marked gene: GRXCR2 as ready
Mendeliome v0.475 HARS Zornitza Stark Phenotypes for gene: HARS were changed from to Charcot-Marie-Tooth disease, axonal, type 2W, MIM# 616625
Mendeliome v0.474 HARS Zornitza Stark Publications for gene: HARS were set to
Mendeliome v0.474 HARS Zornitza Stark Mode of inheritance for gene: HARS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.473 HARS Zornitza Stark reviewed gene: HARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 26072516; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2W, MIM# 616625; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.473 KITLG Zornitza Stark Marked gene: KITLG as ready
Mendeliome v0.465 NUP188 Zornitza Stark Marked gene: NUP188 as ready
Mendeliome v0.465 NUP188 Zornitza Stark Phenotypes for gene: NUP188 were changed from to microcephaly; ID; cataract
Mendeliome v0.461 NUP188 Zornitza Stark reviewed gene: NUP188: Rating: AMBER; Mode of pathogenicity: None; Publications: https://doi.org/10.1159/000504818, 28726809; Phenotypes: microcephaly, ID, cataract; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.461 SLC5A6 Zornitza Stark Marked gene: SLC5A6 as ready
Mendeliome v0.459 KIF23 Zornitza Stark Marked gene: KIF23 as ready
Mendeliome v0.455 ATP2B3 Zornitza Stark Marked gene: ATP2B3 as ready
Mendeliome v0.455 ATP2B3 Zornitza Stark Phenotypes for gene: ATP2B3 were changed from to Spinocerebellar ataxia, X-linked 1, MIM#302500
Mendeliome v0.451 ATP2B3 Zornitza Stark reviewed gene: ATP2B3: Rating: AMBER; Mode of pathogenicity: None; Publications: 22912398, 27653636, 27632770; Phenotypes: Spinocerebellar ataxia, X-linked 1, MIM#302500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.451 CACNB4 Zornitza Stark Marked gene: CACNB4 as ready
Mendeliome v0.447 CAPN1 Zornitza Stark Marked gene: CAPN1 as ready
Mendeliome v0.447 CAPN1 Zornitza Stark Phenotypes for gene: CAPN1 were changed from to Spastic paraplegia 76, autosomal recessive, MIM#616907
Mendeliome v0.444 CAPN1 Zornitza Stark reviewed gene: CAPN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27153400; Phenotypes: Spastic paraplegia 76, autosomal recessive, MIM#616907; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.444 CCDC28B Zornitza Stark Marked gene: CCDC28B as ready
Mendeliome v0.443 CCDC28B Zornitza Stark Phenotypes for gene: CCDC28B were changed from to {Bardet-Biedl syndrome 1, modifier of}, MIM#209900
Mendeliome v0.441 CCDC28B Zornitza Stark reviewed gene: CCDC28B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Bardet-Biedl syndrome 1, modifier of}, MIM#209900; Mode of inheritance: Other
Mendeliome v0.441 COA7 Zornitza Stark Marked gene: COA7 as ready
Mendeliome v0.440 COA7 Zornitza Stark gene: COA7 was added
gene: COA7 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: COA7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COA7 were set to 29718187; 27683825
Phenotypes for gene: COA7 were set to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, MIM#618387
Review for gene: COA7 was set to GREEN
Added comment: Five unrelated individuals reported with bi-allelic variants in this gene. Slowly progressive condition with variable onset, but at least three individuals presented at <5 years of age.
Sources: Expert list
Mendeliome v0.438 CCDC88C Zornitza Stark Marked gene: CCDC88C as ready
Mendeliome v0.438 CCDC88C Zornitza Stark Phenotypes for gene: CCDC88C were changed from to Spinocerebellar ataxia 40, MIM#616053
Mendeliome v0.434 CCDC88C Zornitza Stark reviewed gene: CCDC88C: Rating: AMBER; Mode of pathogenicity: None; Publications: 25062847, 30398676; Phenotypes: Spinocerebellar ataxia 40, MIM#616053; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.434 COQ5 Zornitza Stark Marked gene: COQ5 as ready
Mendeliome v0.434 COQ5 Zornitza Stark Phenotypes for gene: COQ5 were changed from to Cerebellar ataxia; encephalopathy; generalized tonic-clonic seizures; intellectual disability
Mendeliome v0.430 COQ5 Zornitza Stark reviewed gene: COQ5: Rating: RED; Mode of pathogenicity: None; Publications: 29044765; Phenotypes: Cerebellar ataxia, encephalopathy, generalized tonic-clonic seizures, intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.430 EEF2 Zornitza Stark Marked gene: EEF2 as ready
Mendeliome v0.430 EEF2 Zornitza Stark Phenotypes for gene: EEF2 were changed from to Spinocerebellar ataxia 26
Mendeliome v0.426 EEF2 Zornitza Stark reviewed gene: EEF2: Rating: RED; Mode of pathogenicity: None; Publications: 15732118, 23001565; Phenotypes: Spinocerebellar ataxia 26; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.426 FAT2 Zornitza Stark Marked gene: FAT2 as ready
Mendeliome v0.425 FAT2 Zornitza Stark gene: FAT2 was added
gene: FAT2 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: FAT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FAT2 were set to 29053796
Phenotypes for gene: FAT2 were set to Spinocerebellar ataxia 45, MIM#617769
Review for gene: FAT2 was set to AMBER
Added comment: Segregates in one family, and identified in one apparently sporadic case. In vitro functional evidence.
Sources: Expert list
Mendeliome v0.424 GDAP2 Zornitza Stark Marked gene: GDAP2 as ready
Mendeliome v0.423 GDAP2 Zornitza Stark gene: GDAP2 was added
gene: GDAP2 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: GDAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GDAP2 were set to 30084953
Phenotypes for gene: GDAP2 were set to Spinocerebellar ataxia, autosomal recessive 27, MIM#618369
Review for gene: GDAP2 was set to GREEN
Added comment: Two families and animal model.
Sources: Expert list
Mendeliome v0.422 MN1 Zornitza Stark Marked gene: MN1 as ready
Mendeliome v0.418 NDUFAF8 Zornitza Stark Marked gene: NDUFAF8 as ready
Mendeliome v0.417 NDUFAF8 Zornitza Stark gene: NDUFAF8 was added
gene: NDUFAF8 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: NDUFAF8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFAF8 were set to 31866046
Phenotypes for gene: NDUFAF8 were set to Leigh syndrome
Review for gene: NDUFAF8 was set to GREEN
Added comment: Three unrelated individuals with bi-allelic variants in this gene; functional data. Beware recurrent deep intronic splicing variant.
Sources: Literature
Mendeliome v0.416 EEF1B2 Zornitza Stark Marked gene: EEF1B2 as ready
Mendeliome v0.415 EEF1B2 Zornitza Stark gene: EEF1B2 was added
gene: EEF1B2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: EEF1B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EEF1B2 were set to 31845318; 21937992
Phenotypes for gene: EEF1B2 were set to Intellectual disability
Review for gene: EEF1B2 was set to AMBER
Added comment: 5 individuals from two unrelated families described in the literature so far, no functional data but gene belongs to a family implicated in neurodevelopmental disorders.
Sources: Literature
Mendeliome v0.414 INSRR Zornitza Stark Marked gene: INSRR as ready
Mendeliome v0.413 GRIK5 Zornitza Stark Marked gene: GRIK5 as ready
Mendeliome v0.412 TBC1D8B Zornitza Stark Marked gene: TBC1D8B as ready
Mendeliome v0.410 MPST Zornitza Stark Marked gene: MPST as ready
Mendeliome v0.407 TRIM24 Zornitza Stark Marked gene: TRIM24 as ready
Mendeliome v0.406 ARID5B Zornitza Stark Marked gene: ARID5B as ready
Mendeliome v0.406 ARID5B Zornitza Stark Gene: arid5b has been classified as Red List (Low Evidence).
Mendeliome v0.406 ARID5B Zornitza Stark Classified gene: ARID5B as Red List (low evidence)
Mendeliome v0.406 ARID5B Zornitza Stark Gene: arid5b has been classified as Red List (Low Evidence).
Mendeliome v0.405 ARID5B Belinda Chong reviewed gene: ARID5B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.405 MLX Zornitza Stark Marked gene: MLX as ready
Mendeliome v0.404 REV3L Zornitza Stark Marked gene: REV3L as ready
Mendeliome v0.401 SELP Zornitza Stark Marked gene: SELP as ready
Mendeliome v0.400 FLG2 Zornitza Stark Marked gene: FLG2 as ready
Mendeliome v0.398 NLRP2 Zornitza Stark Marked gene: NLRP2 as ready
Mendeliome v0.398 NLRP2 Zornitza Stark Phenotypes for gene: NLRP2 were changed from to female infertility; early embryonic arrest
Mendeliome v0.395 NLRP2 Belinda Chong reviewed gene: NLRP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30877238; Phenotypes: female infertility, early embryonic arrest; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.395 TBC1D32 Zornitza Stark Marked gene: TBC1D32 as ready
Mendeliome v0.391 EXOC3L2 Zornitza Stark Marked gene: EXOC3L2 as ready
Mendeliome v0.391 EXOC3L2 Zornitza Stark Phenotypes for gene: EXOC3L2 were changed from to Dandy-Walker malformation; renal dysplasia; bone marrow failure
Mendeliome v0.387 NUP133 Zornitza Stark Marked gene: NUP133 as ready
Mendeliome v0.385 NUP160 Zornitza Stark Marked gene: NUP160 as ready
Mendeliome v0.384 NUP85 Zornitza Stark Marked gene: NUP85 as ready
Mendeliome v0.382 XPO5 Zornitza Stark Marked gene: XPO5 as ready
Mendeliome v0.378 NUP205 Zornitza Stark Marked gene: NUP205 as ready
Mendeliome v0.373 KANK4 Zornitza Stark Marked gene: KANK4 as ready
Mendeliome v0.371 KCNT2 Zornitza Stark Marked gene: KCNT2 as ready
Mendeliome v0.370 KCNT2 Zornitza Stark gene: KCNT2 was added
gene: KCNT2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: KCNT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNT2 were set to 29069600; 29740868
Phenotypes for gene: KCNT2 were set to Epileptic encephalopathy, early infantile, 57, MIM#617771; Developmental and epileptic encephalopathy
Review for gene: KCNT2 was set to GREEN
Added comment: Reviewed by E Palmer: Ambrosino et al described 2 unrelated females with de novo variants in KCNT2. The first patient had the variant p.(Arg190His) had with West syndrome followed by Lennox-Gastaut syndrome , the second patient had the variant p.(Arg190Pro) and DEE with migrating focal seizures. Both variants were absent gnomad and had supportive in silico support for pathogenicity. In an electrophisological model both KCNT2 R190P and KCNT2 R190H increased maximal current density and shifted toward more negative membrane potential values the activation curve of KCNT2 channels, consistent with gain of function effects. PMID: 29740868.

Gururaj et al describe one male with de novo variant in KCNT2 p. (Phe240Leu) and early infantile epileptic encephalopathy. he variant was absent gnomad and supportive evidence of pathogenicity This variant was electrophysiologically modelled and revealed that the variant resulted in a 'change in function' demonstrating unusual altered selectivity in KNa channels.PMID: 29069600.
Sources: Literature
Mendeliome v0.369 PLS1 Zornitza Stark Marked gene: PLS1 as ready
Mendeliome v0.368 PLS1 Zornitza Stark gene: PLS1 was added
gene: PLS1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: PLS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PLS1 were set to 31397523; 31432506; 30872814
Phenotypes for gene: PLS1 were set to Deafness
Review for gene: PLS1 was set to GREEN
Added comment: Non-syndromic deafness in 5 families with mono allelic variants in this gene. Mouse model.
Sources: Literature
Mendeliome v0.367 TASP1 Zornitza Stark Marked gene: TASP1 as ready
Mendeliome v0.366 TASP1 Zornitza Stark gene: TASP1 was added
gene: TASP1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: TASP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TASP1 were set to 31209944; 31350873
Phenotypes for gene: TASP1 were set to Developmental delay; microcephaly; dysmorphic features; congenital abnormalities
Review for gene: TASP1 was set to GREEN
Added comment: Four unrelated families reported; two with founder mutation. Protein interacts with KMT2A and KMT2D. Another infant with a de novo missense variant reported in a single infant with multiple congenital abnormalities, insufficient evidence for mono allelic disease at present.
Sources: Literature
Mendeliome v0.364 GDF11 Zornitza Stark Marked gene: GDF11 as ready
Mendeliome v0.362 PRDM13 Zornitza Stark Marked gene: PRDM13 as ready
Mendeliome v0.361 PRDM13 Zornitza Stark gene: PRDM13 was added
gene: PRDM13 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: PRDM13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRDM13 were set to 30710461
Phenotypes for gene: PRDM13 were set to Retinal dystrophy
Mode of pathogenicity for gene: PRDM13 was set to Other
Review for gene: PRDM13 was set to GREEN
Added comment: 8 individuals from three families reported with UPSTREAM NON-CODING variants in this gene.
Sources: Literature
Mendeliome v0.360 MICB Zornitza Stark Marked gene: MICB as ready
Mendeliome v0.360 MICB Zornitza Stark Added comment: Comment when marking as ready: Agree, cannot find evidence for Mendelian gene-disease association.
Mendeliome v0.359 MICB Sebastian Lunke changed review comment from: This gene is included in a large number of publications as it plays an central role immunity (MAJOR HISTOCOMPATIBILITY COMPLEX CLASS I CHAIN-RELATED GENE B). However beyond a number of susceptibility associations, it does not appear to have been firmly associated with disease in patients.; to: This gene is included in a large number of publications as it plays an central role immunity (MAJOR HISTOCOMPATIBILITY COMPLEX CLASS I CHAIN-RELATED GENE B). However beyond a number of susceptibility associations, it does not appear to have been firmly associated with disease in patients.

https://ghr.nlm.nih.gov/gene/MICB#resources
Mendeliome v0.359 ANKRD17 Zornitza Stark Marked gene: ANKRD17 as ready
Mendeliome v0.357 TTLL10 Zornitza Stark Marked gene: TTLL10 as ready
Mendeliome v0.356 ZFHX3 Zornitza Stark Marked gene: ZFHX3 as ready
Mendeliome v0.354 USP7 Zornitza Stark Marked gene: USP7 as ready
Mendeliome v0.351 KLHL24 Tiong Tan Marked gene: KLHL24 as ready
Mendeliome v0.351 KLHL24 Tiong Tan Phenotypes for gene: KLHL24 were changed from Epidermolysis bullosa simplex, generalized, with scarring and hair loss OMIM#617294; dilated cardiomyopathy to Epidermolysis bullosa simplex, generalized, with scarring and hair loss OMIM#617294; dilated cardiomyopathy
Mendeliome v0.350 KLHL24 Tiong Tan Phenotypes for gene: KLHL24 were changed from to Epidermolysis bullosa simplex, generalized, with scarring and hair loss OMIM#617294; dilated cardiomyopathy
Mendeliome v0.347 KLHL24 Tiong Tan reviewed gene: KLHL24: Rating: GREEN; Mode of pathogenicity: None; Publications: 29779254, 30120936; Phenotypes: Epidermolysis bullosa simplex, generalized, with scarring and hair loss OMIM#617294, dilated cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.347 SLC12A2 Zornitza Stark Marked gene: SLC12A2 as ready
Mendeliome v0.345 PANK4 Zornitza Stark Marked gene: PANK4 as ready
Mendeliome v0.344 PANK4 Zornitza Stark gene: PANK4 was added
gene: PANK4 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: PANK4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PANK4 were set to 30585370
Phenotypes for gene: PANK4 were set to Congenital posterior cataract
Review for gene: PANK4 was set to AMBER
Added comment: Variant segregated with cataract in single 4-generation family, functional data including mouse model.
Sources: Literature
Mendeliome v0.343 CSNK1E Zornitza Stark Marked gene: CSNK1E as ready
Mendeliome v0.343 CSNK1E Zornitza Stark gene: CSNK1E was added
gene: CSNK1E was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: CSNK1E was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CSNK1E were set to 30488659
Phenotypes for gene: CSNK1E were set to Epileptic encephalopathy
Review for gene: CSNK1E was set to RED
Added comment: De novo splicing variant reported but in conjunction with STXBP1 variants; authors postulate it may contribute to susceptibility. Also reports linking variants in this gene to psychiatric disorders.
Sources: Literature
Mendeliome v0.342 DST Zornitza Stark Marked gene: DST as ready
Mendeliome v0.342 DST Zornitza Stark Phenotypes for gene: DST were changed from to Neuropathy, hereditary sensory and autonomic, type VI, MIM#614653; Epidermolysis bullosa simplex, autosomal recessive 2, MIM#615425
Mendeliome v0.339 DST Zornitza Stark reviewed gene: DST: Rating: GREEN; Mode of pathogenicity: None; Publications: 22522446, 30371979, 28468842; Phenotypes: Neuropathy, hereditary sensory and autonomic, type VI, MIM#614653, Epidermolysis bullosa simplex, autosomal recessive 2, MIM#615425; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.339 DEGS1 Zornitza Stark Marked gene: DEGS1 as ready
Mendeliome v0.337 POLD2 Zornitza Stark Marked gene: POLD2 as ready
Mendeliome v0.336 ZNF292 Zornitza Stark Marked gene: ZNF292 as ready
Mendeliome v0.335 ZNF292 Zornitza Stark gene: ZNF292 was added
gene: ZNF292 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: ZNF292 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZNF292 were set to 31723249
Phenotypes for gene: ZNF292 were set to Intellectual disability; Autism; ADHD
Review for gene: ZNF292 was set to GREEN
Added comment: 28 families with spectrum of neurodevelopmental features (including ID, ASD, and ADHD) due to de novo ZNF292 variants (1 family inherited). No functional evidence of specific variants, but ZNF292 is highly expressed in the developing human brain.
Sources: Literature
Mendeliome v0.334 ZMIZ1 Zornitza Stark Marked gene: ZMIZ1 as ready
Mendeliome v0.333 ZMIZ1 Zornitza Stark gene: ZMIZ1 was added
gene: ZMIZ1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: ZMIZ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZMIZ1 were set to 30639322
Phenotypes for gene: ZMIZ1 were set to Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies; OMIM #618659
Review for gene: ZMIZ1 was set to GREEN
Added comment: 19 unrelated individuals with heterozygous variants in this gene reported.
Sources: Literature
Mendeliome v0.332 VAMP2 Zornitza Stark Marked gene: VAMP2 as ready
Mendeliome v0.331 VAMP2 Zornitza Stark gene: VAMP2 was added
gene: VAMP2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: VAMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VAMP2 were set to 30929742
Phenotypes for gene: VAMP2 were set to Intellectual disability; Autism
Review for gene: VAMP2 was set to GREEN
Added comment: 5 unrelated patients with heterozygous de novo mutations in VAMP2, presenting with a neurodevelopmental disorder characterized by axial hypotonia, intellectual disability, and autistic features. Affected individuals carrying de novo non-synonymous variants involving the C-terminal region presented a more severe phenotype with additional neurological features, including central visual impairment, hyperkinetic movement disorder, and epilepsy or electroencephalography abnormalities. Reconstituted fusion involving a lipid-mixing assay indicated impairment in vesicle fusion as one of the possible associated disease mechanisms.
Sources: Literature
Mendeliome v0.330 TENM3 Zornitza Stark Marked gene: TENM3 as ready
Mendeliome v0.327 TARS Zornitza Stark Marked gene: TARS as ready
Mendeliome v0.327 TARS Zornitza Stark Gene: tars has been classified as Amber List (Moderate Evidence).
Mendeliome v0.327 TARS Zornitza Stark Classified gene: TARS as Amber List (moderate evidence)
Mendeliome v0.327 TARS Zornitza Stark Gene: tars has been classified as Amber List (Moderate Evidence).
Mendeliome v0.326 TARS Zornitza Stark gene: TARS was added
gene: TARS was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: TARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TARS were set to 31374204
Phenotypes for gene: TARS were set to Trichothiodystrophy 7, nonphotosensitive; OMIM #618546
Review for gene: TARS was set to AMBER
Added comment: Clinical features of trichothiodystrophy (TTD) include ichthyosis, intellectual disability, decreased fertility, short stature.

2 unrelated patients with non-photosensitive-TTD, in whom limited clinical information was available (one with DD): one compound heterozygous TARS variants, second homozygous for TARS variant. They showed that the variants had a profound effect on TARS protein stability and enzymatic function.
Sources: Literature
Mendeliome v0.325 TANC2 Zornitza Stark Marked gene: TANC2 as ready
Mendeliome v0.324 TANC2 Zornitza Stark gene: TANC2 was added
gene: TANC2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: TANC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TANC2 were set to 31616000
Phenotypes for gene: TANC2 were set to Intellectual disability; autism; epilepsy; dysmorphism
Review for gene: TANC2 was set to GREEN
Added comment: 19 families with potentially disruptive heterozygous TANC2 variants, including 16 likely gene-disrupting mutations and three intragenic microdeletions. Patients presented with autism, intellectual disability, delayed language and motor development, epilepsy, facial dysmorphism, with complex psychiatric dysfunction or behavioral problems in adult probands or carrier parents. No functional evidence of specific variants, but they show TANC2 is expressed broadly in the human developing brain, especially in excitatory neurons and glial cells, and shows a more restricted pattern in Drosophila glial cells where its disruption affects behavioral outcomes.
Sources: Literature
Mendeliome v0.323 SVBP Zornitza Stark Marked gene: SVBP as ready
Mendeliome v0.322 SVBP Zornitza Stark gene: SVBP was added
gene: SVBP was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: SVBP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SVBP were set to 31363758; 30607023
Phenotypes for gene: SVBP were set to Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly; OMIM #618569
Review for gene: SVBP was set to GREEN
Added comment: 5 unrelated families with homozygous mutations in SVBP. The mutations segregated with the disorder in all families. In vitro functional cellular expression studies showed that protein levels of the SVBP mutants were barely detectable, suggesting instability, and that the mutant proteins had lost VASH/SVBP catalytic detyrosination activity toward tubulin. Knockdown of about 50% Svbp expression using shRNA in rat hippocampal neurons impaired the formation of excitatory synapses compared to controls.
Sources: Literature
Mendeliome v0.321 SOX4 Zornitza Stark Marked gene: SOX4 as ready
Mendeliome v0.320 SOX4 Zornitza Stark gene: SOX4 was added
gene: SOX4 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: SOX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SOX4 were set to 30661772
Phenotypes for gene: SOX4 were set to Coffin-Siris syndrome 10; OMIM #618506
Review for gene: SOX4 was set to GREEN
Added comment: 4 patients with syndromic DD/ID and de novo mutations in SOX4 gene. Functional assays demonstrated that the SOX4 proteins carrying these variants were unable to bind DNA in vitro and transactivate SOX reporter genes in cultured cells.
Sources: Literature
Mendeliome v0.319 SNRPE Zornitza Stark Marked gene: SNRPE as ready
Mendeliome v0.316 SCAPER Zornitza Stark Marked gene: SCAPER as ready
Mendeliome v0.314 SCAMP5 Zornitza Stark Marked gene: SCAMP5 as ready
Mendeliome v0.313 SCAMP5 Zornitza Stark gene: SCAMP5 was added
gene: SCAMP5 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: SCAMP5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCAMP5 were set to 31439720
Phenotypes for gene: SCAMP5 were set to Intellectual disability; seizures; autism
Mode of pathogenicity for gene: SCAMP5 was set to Other
Review for gene: SCAMP5 was set to GREEN
Added comment: 2 unrelated individuals with ASD, ID and seizures, with the same heterozygous de novo variant in SCAMP5 (p.Gly302Trp). Western blot analysis of proteins overexpressed in the Drosophila fat body showed strongly reduced levels of the SCAMP p.Gly302Trp protein compared with the wild-type protein, indicating that the mutant either reduced expression or increased turnover of the protein. The expression of the fly homologue of the human SCAMP5 p.Gly180Trp mutation caused similar eye and neuronal phenotypes as the expression of SCAMP RNAi, suggesting a dominant-negative effect.
Sources: Literature
Mendeliome v0.312 PPP2CA Zornitza Stark Marked gene: PPP2CA as ready
Mendeliome v0.311 PPP2CA Zornitza Stark gene: PPP2CA was added
gene: PPP2CA was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: PPP2CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PPP2CA were set to 30595372
Phenotypes for gene: PPP2CA were set to Neurodevelopmental disorder and language delay with or without structural brain abnormalities; OMIM #618354
Review for gene: PPP2CA was set to GREEN
Added comment: 15 unrelated patients with a neurodevelopmental disorder with de novo heterozygous PPP2CA mutations, and 1 with partial deletion of PPP2CA. Functional studies showed complete PP2A dysfunction in 4 individuals with seemingly milder ID, hinting at haploinsufficiency. Ten other individuals showed mutation-specific biochemical distortions, including poor expression, altered binding to the A subunit and specific B-type subunits, and impaired phosphatase activity and C-terminal methylation.
Sources: Literature
Mendeliome v0.310 POU3F3 Zornitza Stark Marked gene: POU3F3 as ready
Mendeliome v0.309 POU3F3 Zornitza Stark gene: POU3F3 was added
gene: POU3F3 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: POU3F3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POU3F3 were set to 24550763; 31303265
Phenotypes for gene: POU3F3 were set to Intellectual disability
Review for gene: POU3F3 was set to GREEN
Added comment: 19 individuals with DD/ID/speech issues and heterozygous POU3F3 disruptions, most of which were de novo variants. Positive functional cell-based analyses of pathogenic variants.

1 patient reported with whole gene deletion and ID.
Sources: Literature
Mendeliome v0.308 PISD Zornitza Stark Marked gene: PISD as ready
Mendeliome v0.308 PISD Zornitza Stark commented on gene: PISD: 4 individuals in 2 unrelated but consanguineous families from Portugal and Brazil affected by early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with scoliosis and short stature (Liberfarb syndrome). Affected individuals shared a homozygous 10-bp deletion immediately upstream of the last exon of the PISD gene. In HEK293T cells, this variant led to aberrant splicing of PISD transcripts. 1 family with 2 sisters with congenital cataracts, short stature, and white matter changes identified compound heterozygous variants in the PISD gene. Decreased conversion of phosphatidylserine to PE in patient fibroblasts is consistent with impaired phosphatidylserine decarboxylase (PISD) enzyme activity.
Mendeliome v0.308 PISD Zornitza Stark reviewed gene: PISD: Rating: GREEN; Mode of pathogenicity: None; Publications: 31263216, 30858161; Phenotypes: Intellectual disability, cataracts, retinal degeneration, microcephaly, deafness, short stature, white matter abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.308 PIGB Zornitza Stark Marked gene: PIGB as ready
Mendeliome v0.307 PIGB Zornitza Stark gene: PIGB was added
gene: PIGB was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: PIGB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGB were set to 31256876
Phenotypes for gene: PIGB were set to Epileptic encephalopathy, early infantile, 80; OMIM #618580
Review for gene: PIGB was set to GREEN
Added comment: 10 unrelated families with biallelic mutations in PIGB, with global DD and/or ID, and seizures. Two had polymicrogyria, 4 had a peripheral neuropathy, and 2 had a clinical diagnosis of DOORS syndrome. Patient lymphocytes and fibroblasts showed variably decreased levels of cell surface GPI-anchored proteins, including CD16 and CD59. In vitro functional expression studies performed with some of the mutations in PIGB-null CHO cells showed that the mutant proteins were unable to fully restore expression of GPI-anchored surface proteins, consistent with a loss of function, although the mutations had variable effects.
Sources: Literature
Mendeliome v0.306 PIBF1 Zornitza Stark Marked gene: PIBF1 as ready
Mendeliome v0.305 PIBF1 Zornitza Stark gene: PIBF1 was added
gene: PIBF1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: PIBF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIBF1 were set to 26167768; 30858804; 29695797
Phenotypes for gene: PIBF1 were set to Joubert syndrome 33; OMIM #617767
Review for gene: PIBF1 was set to GREEN
Added comment: Three unrelated families plus three Hutterite families reported with bi-allelic variants in this gene.
Sources: Literature
Mendeliome v0.304 PHF21A Zornitza Stark Marked gene: PHF21A as ready
Mendeliome v0.303 PHF21A Zornitza Stark gene: PHF21A was added
gene: PHF21A was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: PHF21A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PHF21A were set to 31649809; 30487643; 22770980
Phenotypes for gene: PHF21A were set to Intellectual disability; dysmorphic features
Review for gene: PHF21A was set to GREEN
Added comment: 9 cases with intellectual disability and craniofacial anomalies (Potocki-Shaffer syndrome), with de novo truncating variants in PHF21A. No functional evidence of variants, but PHF21A is highly expressed in the human fetal brain, which is consistent with the neurodevelopmental phenotype.

2 other unrelated individuals with translocations disrupting PHF21A. Lymphoblastoid cell lines from translocation subjects showed derepression of the neuronal gene SCN3A and reduced LSD1 occupancy at the SCN3A promoter, supporting a direct functional consequence of PHF21A haploinsufficiency on transcriptional regulation.
Sources: Literature
Mendeliome v0.302 POLR2A Sue White Marked gene: POLR2A as ready
Mendeliome v0.301 POLR2A Sue White gene: POLR2A was added
gene: POLR2A was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: POLR2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLR2A were set to 31353023
Phenotypes for gene: POLR2A were set to Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, MIM# 618603
Mode of pathogenicity for gene: POLR2A was set to Other
Review for gene: POLR2A was set to GREEN
Added comment: 11 unrelated individuals reported with de novo variants in this gene. Missense variants postulated to exert a dominant-negative effect; LoF variants by contrast resulted in milder phenotype.
Sources: Literature
Mendeliome v0.300 PAK1 Zornitza Stark Marked gene: PAK1 as ready
Mendeliome v0.299 PAK1 Zornitza Stark gene: PAK1 was added
gene: PAK1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: PAK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PAK1 were set to 31504246; 30290153
Phenotypes for gene: PAK1 were set to Intellectual developmental disorder with macrocephaly, seizures, and speech delay; OMIM #618158
Review for gene: PAK1 was set to GREEN
Added comment: 2 unrelated individuals with de novo PAK1 mutations, with developmental delay, secondary macrocephaly, seizures, and ataxic gait. Enhanced phosphorylation of the PAK1 targets JNK and AKT shown in fibroblasts of one subject and of c-JUN in those of both subjects compared with control subjects. In fibroblasts of the 2 affected individuals, they observed a trend toward enhanced PAK1 kinase activity. By using co-immunoprecipitation and size-exclusion chromatography, they observed a significantly reduced dimerization for both PAK1 mutants compared with wild-type PAK1.

4 unrelated individuals with intellectual disability, macrocephaly and seizures, with de novo heterozygous missense variants in PAK1.
Sources: Literature
Mendeliome v0.298 P4HTM Zornitza Stark Marked gene: P4HTM as ready
Mendeliome v0.297 P4HTM Zornitza Stark gene: P4HTM was added
gene: P4HTM was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: P4HTM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: P4HTM were set to 25078763; 30940925
Phenotypes for gene: P4HTM were set to Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities; OMIM #618493
Review for gene: P4HTM was set to GREEN
Added comment: 12 patients from 5 families with hypotonia, intellectual disability, and eye abnormalities, and homozygous or compound heterozygous pathogenic P4HTM gene variants. Segregated with the disorder in the families. In vitro functional expression studies of 3 of the P4HTM variants showed that they caused a significant decrease in the amount of soluble protein compared to wildtype.
Sources: Literature
Mendeliome v0.296 NLGN1 Zornitza Stark Marked gene: NLGN1 as ready
Mendeliome v0.296 NLGN1 Zornitza Stark gene: NLGN1 was added
gene: NLGN1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: NLGN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NLGN1 were set to 30460678
Phenotypes for gene: NLGN1 were set to intellectual disability; autism
Review for gene: NLGN1 was set to RED
Added comment: homozygous variant in the NLGN1 gene found in a pair of monozygotic twin brothers with intellectual disability and autism. Segregated with disease. No functional studies.
Sources: Literature
Mendeliome v0.295 NFASC Zornitza Stark Marked gene: NFASC as ready
Mendeliome v0.294 NFASC Zornitza Stark gene: NFASC was added
gene: NFASC was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: NFASC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NFASC were set to 31501903; 28940097; 30124836; 30850329; 31608123
Phenotypes for gene: NFASC were set to Neurodevelopmental disorder with central and peripheral motor dysfunction; OMIM #618356
Review for gene: NFASC was set to GREEN
Added comment: > 10 unrelated families reported, exhibiting a neurodevelopmental disorder (intellectual disability, developmental delay, motor impairment, speech difficulties, early onset demyelinating neuropathy), with homozygous variants in NFASC. Segregated with the disorder in the family. Some studies with functional evidence.
Sources: Literature
Mendeliome v0.293 NCAPD2 Zornitza Stark Marked gene: NCAPD2 as ready
Mendeliome v0.293 NCAPD2 Zornitza Stark Phenotypes for gene: NCAPD2 were changed from to Microcephaly 21, primary, autosomal recessive; OMIM #617983
Mendeliome v0.290 NCAPD2 Zornitza Stark reviewed gene: NCAPD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31056748, 27737959, 28097321; Phenotypes: Microcephaly 21, primary, autosomal recessive, OMIM #617983; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.290 MEPCE Zornitza Stark Marked gene: MEPCE as ready
Mendeliome v0.290 MEPCE Zornitza Stark gene: MEPCE was added
gene: MEPCE was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: MEPCE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MEPCE were set to 31467394
Phenotypes for gene: MEPCE were set to Intellectual disability; seizures
Review for gene: MEPCE was set to RED
Added comment: 1 patient with global DD and seizures with de novo MEPCE nonsense variant. mRNA and protein analyses identified nonsense-mediated mRNA decay to underlie the decreased amount of MEPCE in patient fibroblasts followed by LARP7 and 7SK snRNA downregulation and HEXIM1 upregulation. Flavopiridol treatment and ectopic MEPCE protein expression in patient fibroblasts rescued increased expression of six RNAP II-sensitive genes and suggested a possible repressive effect of MEPCE on P-TEFb-dependent transcription of specific genes.
Sources: Literature
Mendeliome v0.289 MAST1 Zornitza Stark Marked gene: MAST1 as ready
Mendeliome v0.288 MAST1 Zornitza Stark gene: MAST1 was added
gene: MAST1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: MAST1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAST1 were set to 31721002; 30449657
Phenotypes for gene: MAST1 were set to Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations; OMIM #618273
Review for gene: MAST1 was set to GREEN
Added comment: 6 unrelated patients with mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations (MCCCHCM) with de novo heterozygous mutations in MAST1 gene. In vitro functional studies showed that 1 of the variants (lys276del) increased MAST1 binding to microtubules compared to controls. Mutant mice heterozygous for a Mast1 leu278del allele showed a thicker corpus callosum compared to wildtype, and an overall reduction in cortical volume and thickness and decreased cerebellar volume and number of granule and Purkinje cells due to increased apoptosis compared to controls.

1 Emirati patient with ID, microcephaly, and dysmorphic features, with missense variant in MAST1.
Sources: Literature
Mendeliome v0.287 MACROD2 Zornitza Stark Marked gene: MACROD2 as ready
Mendeliome v0.287 MACROD2 Zornitza Stark gene: MACROD2 was added
gene: MACROD2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: MACROD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MACROD2 were set to 31055587
Phenotypes for gene: MACROD2 were set to intellectual disability; dysmorphic features; microcephaly
Review for gene: MACROD2 was set to RED
Added comment: 1 family with a few affected with microcephaly, ID, dysmorphic features, and polydactyly. Deletion of chromosome 20p12.1 involving the MACROD2 gene was found in several members of the family. qRT-PCR showed higher levels of a MACROD2 mRNA isoform in the individuals carrying the deletion.
Sources: Literature
Mendeliome v0.286 LSS Zornitza Stark Marked gene: LSS as ready
Mendeliome v0.285 LSS Zornitza Stark gene: LSS was added
gene: LSS was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: LSS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LSS were set to 30723320
Phenotypes for gene: LSS were set to Cataract 44, OMIM #616509; Hypotrichosis 14, OMIM #618275; Intellectual disability
Review for gene: LSS was set to GREEN
Added comment: Expanded the phenotypic spectrum of LSS to a recessive neuroectodermal syndrome formerly named alopecia with mental retardation (APMR) syndrome. Ten APMR individuals from 6 unrelated families with biallelic variants in LSS. Quantification of cholesterol and its precursors did not reveal noticeable imbalance.
Sources: Literature
Mendeliome v0.284 LSM1 Zornitza Stark Marked gene: LSM1 as ready
Mendeliome v0.284 LSM1 Zornitza Stark gene: LSM1 was added
gene: LSM1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: LSM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LSM1 were set to 31010896
Phenotypes for gene: LSM1 were set to intellectual disability; congenital abnormalities
Review for gene: LSM1 was set to RED
Added comment: 1 family with 2 siblings with global DD, multiple congenital anomalies, and abnormal eye movements, with homozygous splice variant in LSM1. Segregated with the phenotype in the family. Expression studies revealed absence of expression of the canonical isoform in the affected individuals. The Lsm1 knockout mice have a partially overlapping phenotype that affects the brain, heart, and eye.
Sources: Literature
Mendeliome v0.283 LMAN2L Zornitza Stark Marked gene: LMAN2L as ready
Mendeliome v0.282 LMAN2L Zornitza Stark gene: LMAN2L was added
gene: LMAN2L was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: LMAN2L was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: LMAN2L were set to 31020005; 26566883
Phenotypes for gene: LMAN2L were set to Mental retardation, autosomal recessive, 52; OMIM #616887
Review for gene: LMAN2L was set to AMBER
Added comment: 1 consanguineous family with 7 individuals with ID and epilepsy, with homozygous LMAN2L missense mutation. Segregated with disease in family, and unaffected family members were heterozygous variant carriers. No functional studies.

1 non-consanguineous family with 4 affected with heterozygous frameshift LMAN2L mutation. Segregates in family. Mutation eliminates LMAN2L's endoplasmic reticulum retention signal and mislocalizes the protein from that compartment to the plasma membrane.
Sources: Literature
Mendeliome v0.281 KDM3B Zornitza Stark gene: KDM3B was added
gene: KDM3B was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: KDM3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KDM3B were set to 30929739
Phenotypes for gene: KDM3B were set to Intellectual disability; dysmorphic features; short stature
Review for gene: KDM3B was set to GREEN
Added comment: 14 unrelated individuals and 3 affected parents with varying degrees of ID, DD, short stature, dysmorphism, and de novo or inherited pathogenic variants in KDM3B. No functional studies.
Sources: Literature
Mendeliome v0.280 GRIA2 Zornitza Stark Marked gene: GRIA2 as ready
Mendeliome v0.279 GRIA2 Zornitza Stark gene: GRIA2 was added
gene: GRIA2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: GRIA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GRIA2 were set to 31300657
Phenotypes for gene: GRIA2 were set to Intellectual disability; autism; Rett-like features; epileptic encephalopathy
Review for gene: GRIA2 was set to GREEN
Added comment: 28 unrelated patients with ID, ASD, Rett-like features, seizures/EE, and de novo heterozygous GRIA2 mutations. In functional expression studies, mutations led to a decrease in agonist-evoked current mediated by mutant subunits compared to wild-type channels. When GluA2 subunits are co-expressed with GluA1, most GRIA2 mutations cause a decreased current amplitude and some also affect voltage rectification.
Sources: Literature
Mendeliome v0.278 ADGRG6 Zornitza Stark Marked gene: ADGRG6 as ready
Mendeliome v0.278 ADGRG6 Zornitza Stark Added comment: Comment when marking as ready: 1 family with 2 patients with profound ID, severe speech impairment, microcephaly, seizures, spasticity, and cerebellar hypoplasia, with homozygous missense variation in ADGRG6 (GPR126). No functional studies.
Mendeliome v0.274 GABRA5 Zornitza Stark Marked gene: GABRA5 as ready
Mendeliome v0.273 GABRA5 Zornitza Stark gene: GABRA5 was added
gene: GABRA5 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: GABRA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABRA5 were set to 31056671; 29961870
Phenotypes for gene: GABRA5 were set to Epileptic encephalopathy, early infantile, 79; OMIM #618559
Review for gene: GABRA5 was set to GREEN
Added comment: 3 unrelated patients with de novo heterozygous missense mutations in GABRA5 gene. In vitro functional expression studies in HEK293 cells showed that the mutant subunit was expressed at the surface and incorporated into the channel, but the mutant channel was 10 times more sensitive to GABA compared to wildtype. This increased sensitization resulted in increased receptor desensitization to GABA, with a reduced maximal GABA-evoked current and impaired capacity to pass GABAergic chloride current.
Sources: Literature
Mendeliome v0.272 FRY Zornitza Stark Marked gene: FRY as ready
Mendeliome v0.271 FRY Zornitza Stark gene: FRY was added
gene: FRY was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: FRY was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FRY were set to 31487712; 27457812; 21937992
Phenotypes for gene: FRY were set to Intellectual disability
Review for gene: FRY was set to AMBER
Added comment: 1 patient with ID/DD and a novel homozygous deletion involving FRY gene identified by genomic SNP microarray. No functional evidence.

2 consanguineous families with 6 affected individuals with ID, and homozygous mutations of FRY. No functional evidence.
Sources: Literature
Mendeliome v0.270 FBXL3 Zornitza Stark Marked gene: FBXL3 as ready
Mendeliome v0.268 ETS1 Zornitza Stark Marked gene: ETS1 as ready
Mendeliome v0.268 ETS1 Zornitza Stark gene: ETS1 was added
gene: ETS1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: ETS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ETS1 were set to 31160359
Phenotypes for gene: ETS1 were set to Intellectual disability
Review for gene: ETS1 was set to RED
Added comment: Single individual with de novo truncating variant in this gene; gene is Jacobsen syndrome critical region.
Sources: Literature
Mendeliome v0.267 ELMOD1 Zornitza Stark Marked gene: ELMOD1 as ready
Mendeliome v0.266 EEF1D Zornitza Stark Marked gene: EEF1D as ready
Mendeliome v0.265 EEF1D Zornitza Stark gene: EEF1D was added
gene: EEF1D was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: EEF1D was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EEF1D were set to 30787422; 28097321
Phenotypes for gene: EEF1D were set to Intellectual disability
Review for gene: EEF1D was set to AMBER
Added comment: Two unrelated families reported; one as part of a very large cohort of consanguineous families reporting multiple new candidate genes. No functional data.
Sources: Literature
Mendeliome v0.264 DYNC1I2 Zornitza Stark Marked gene: DYNC1I2 as ready
Mendeliome v0.262 DTYMK Zornitza Stark Marked gene: DTYMK as ready
Mendeliome v0.262 DTYMK Zornitza Stark gene: DTYMK was added
gene: DTYMK was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: DTYMK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DTYMK were set to 31271740
Phenotypes for gene: DTYMK were set to Intellectual disability; microcephaly
Review for gene: DTYMK was set to RED
Added comment: Single family, two affected sibs with compound het variants reported.
Sources: Literature
Mendeliome v0.261 DNAJA1 Zornitza Stark Marked gene: DNAJA1 as ready
Mendeliome v0.261 DNAJA1 Zornitza Stark gene: DNAJA1 was added
gene: DNAJA1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: DNAJA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJA1 were set to 30972502
Phenotypes for gene: DNAJA1 were set to Intellectual disability; seizures
Review for gene: DNAJA1 was set to RED
Added comment: Single family with multiple affected individuals reported with bi-allelic truncating variant in this gene.
Sources: Literature
Mendeliome v0.260 DLL1 Zornitza Stark Marked gene: DLL1 as ready
Mendeliome v0.260 DLL1 Zornitza Stark Phenotypes for gene: DLL1 were changed from to Intellectual disability; autism; seizures; variable brain abnormalities; scoliosis
Mendeliome v0.257 DLL1 Zornitza Stark reviewed gene: DLL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31353024; Phenotypes: Intellectual disability, autism, seizures, variable brain abnormalities, scoliosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.257 DDX6 Zornitza Stark Marked gene: DDX6 as ready
Mendeliome v0.256 DDX6 Zornitza Stark gene: DDX6 was added
gene: DDX6 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: DDX6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DDX6 were set to 31422817
Phenotypes for gene: DDX6 were set to Intellectual developmental disorder with impaired language and dysmorphic facies, MIM#618653
Review for gene: DDX6 was set to GREEN
Added comment: Five unrelated individuals reported with 5 different de novo heterozygous missense mutations in exon 11 of the DDX6 gene. All variants occurred at conserved residues in either the QxxR or V motifs within the second RecA-2 domain of the helicase core; this region is involved in RNA and/or ATP binding, suggesting functional consequences.
Sources: Literature
Mendeliome v0.255 CYFIP2 Zornitza Stark Marked gene: CYFIP2 as ready
Mendeliome v0.255 CYFIP2 Zornitza Stark Phenotypes for gene: CYFIP2 were changed from to Epileptic encephalopathy, early infantile, 65, MIM#618008
Mendeliome v0.252 CYFIP2 Zornitza Stark reviewed gene: CYFIP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29534297; Phenotypes: Epileptic encephalopathy, early infantile, 65, MIM#618008; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.252 CSDE1 Zornitza Stark Marked gene: CSDE1 as ready
Mendeliome v0.251 CSDE1 Zornitza Stark gene: CSDE1 was added
gene: CSDE1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: CSDE1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CSDE1 were set to 31579823
Phenotypes for gene: CSDE1 were set to Autism; intellectual disability; seizures; macrocephaly
Review for gene: CSDE1 was set to GREEN
Added comment: 18 families reported with high impact (stoppage/frameshift) variants in this gene. Eight de novo, eight inherited, two with undetermined inheritance. Functional data. Parents who had the variants were also affected, though generally more mildly.
Sources: Literature
Mendeliome v0.250 CNTN6 Zornitza Stark Marked gene: CNTN6 as ready
Mendeliome v0.249 CMAS Zornitza Stark Marked gene: CMAS as ready
Mendeliome v0.248 CDK8 Zornitza Stark Marked gene: CDK8 as ready
Mendeliome v0.247 CDK8 Zornitza Stark gene: CDK8 was added
gene: CDK8 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: CDK8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDK8 were set to 30905399
Phenotypes for gene: CDK8 were set to Intellectual disability; dysmorphism; congenital abnormalities; seizures
Review for gene: CDK8 was set to GREEN
Added comment: 12 unrelated individuals, missense variants demonstrated as de novo in 10. All variants localize to the ATP-binding pocket of the kinase domain.
Sources: Literature
Mendeliome v0.246 RNF113A Zornitza Stark Marked gene: RNF113A as ready
Mendeliome v0.242 PUS7 Zornitza Stark Marked gene: PUS7 as ready
Mendeliome v0.240 SEMA5A Zornitza Stark Marked gene: SEMA5A as ready
Mendeliome v0.239 SEMA5A Zornitza Stark gene: SEMA5A was added
gene: SEMA5A was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: SEMA5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SEMA5A were set to 26395558
Phenotypes for gene: SEMA5A were set to Intellectual disability; autism
Review for gene: SEMA5A was set to AMBER
Added comment: 1 patient with de novo translocation t(5;22)(p15.3;q11.21) and ASD and ID. At the translocation breakpoint on chromosome 5, they observed a 861-kb deletion encompassing the end of the SEMA5A gene. No functional studies.

2 patients with ASD and predicted deleterious heterozygous variants (maternally inherited). No functional studies
Sources: Literature
Mendeliome v0.238 SMARCC2 Zornitza Stark Marked gene: SMARCC2 as ready
Mendeliome v0.238 SMARCC2 Zornitza Stark Gene: smarcc2 has been classified as Green List (High Evidence).
Mendeliome v0.238 SMARCC2 Zornitza Stark Classified gene: SMARCC2 as Green List (high evidence)
Mendeliome v0.238 SMARCC2 Zornitza Stark Gene: smarcc2 has been classified as Green List (High Evidence).
Mendeliome v0.237 SMARCC2 Zornitza Stark gene: SMARCC2 was added
gene: SMARCC2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: SMARCC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMARCC2 were set to 30580808
Phenotypes for gene: SMARCC2 were set to Coffin-Siris syndrome 8; OMIM #618362
Review for gene: SMARCC2 was set to GREEN
Added comment: 15 individuals with variable degrees of neurodevelopmental delay, growth retardation, prominent speech impairment, hypotonia, feeding difficulties, behavioral abnormalities, and dysmorphic features.
Sources: Literature
Mendeliome v0.236 SMARCD1 Zornitza Stark Marked gene: SMARCD1 as ready
Mendeliome v0.236 SMARCD1 Zornitza Stark Gene: smarcd1 has been classified as Green List (High Evidence).
Mendeliome v0.236 SMARCD1 Zornitza Stark Classified gene: SMARCD1 as Green List (high evidence)
Mendeliome v0.236 SMARCD1 Zornitza Stark Gene: smarcd1 has been classified as Green List (High Evidence).
Mendeliome v0.235 SMARCD1 Zornitza Stark gene: SMARCD1 was added
gene: SMARCD1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: SMARCD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMARCD1 were set to 30879640
Phenotypes for gene: SMARCD1 were set to Intellectual disability; dysmorphic features
Review for gene: SMARCD1 was set to GREEN
Added comment: 5 individuals with heterozygous SMARCD1 variants (4 de novo, 1 unk), and developmental delay, intellectual disability, hypotonia, feeding difficulties, dysmorphisms, and small hands and feet.
Sources: Literature
Mendeliome v0.234 BRSK2 Zornitza Stark Marked gene: BRSK2 as ready
Mendeliome v0.233 BRSK2 Zornitza Stark gene: BRSK2 was added
gene: BRSK2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: BRSK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BRSK2 were set to 30879638
Phenotypes for gene: BRSK2 were set to Intellectual disability; autism
Review for gene: BRSK2 was set to GREEN
Added comment: Nine unrelated individuals with heterozygous variants in this gene; six confirmed de novo (parents available).
Sources: Literature
Mendeliome v0.232 BCORL1 Zornitza Stark Marked gene: BCORL1 as ready
Mendeliome v0.230 BCL11B Zornitza Stark Marked gene: BCL11B as ready
Mendeliome v0.229 BCL11B Zornitza Stark gene: BCL11B was added
gene: BCL11B was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: BCL11B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BCL11B were set to 29985992
Phenotypes for gene: BCL11B were set to Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, MIM# 618092
Review for gene: BCL11B was set to GREEN
Added comment: Nine unrelated individuals, all but one with de novo variants in this gene and syndromic ID/immunodeficiency. Most variants located in the last exon (exon 4) and are predicted to escape nonsense-mediated mRNA decay.
Sources: Literature
Mendeliome v0.228 ATN1 Zornitza Stark Marked gene: ATN1 as ready
Mendeliome v0.225 APC2 Zornitza Stark Marked gene: APC2 as ready
Mendeliome v0.223 ALKBH8 Zornitza Stark Marked gene: ALKBH8 as ready
Mendeliome v0.221 ACTL6B Zornitza Stark Marked gene: ACTL6B as ready
Mendeliome v0.220 ACTL6B Zornitza Stark gene: ACTL6B was added
gene: ACTL6B was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: ACTL6B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACTL6B were set to 31134736; 31031012; 30656450; 30237576
Phenotypes for gene: ACTL6B were set to Epileptic encephalopathy, early infantile, 76, MIM# 618468; Intellectual developmental disorder with severe speech and ambulation defects, MIM# 618470
Review for gene: ACTL6B was set to GREEN
Added comment: Over 10 unrelated individuals reported in the literature.
Sources: Literature
Mendeliome v0.219 SELENOI Zornitza Stark Marked gene: SELENOI as ready
Mendeliome v0.219 SELENOI Zornitza Stark Phenotypes for gene: SELENOI were changed from to developmental delay; spasticity; periventricular white mater abnormalities; peripheral neuropathy; seizures; bifid uvula in some affected individuals; microcephaly
Mendeliome v0.216 SELENOI Zornitza Stark reviewed gene: SELENOI: Rating: AMBER; Mode of pathogenicity: None; Publications: 28052917; Phenotypes: developmental delay, spasticity, periventricular white mater abnormalities, peripheral neuropathy, seizures, bifid uvula in some affected individuals, microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.216 PPP1R21 Zornitza Stark Marked gene: PPP1R21 as ready
Mendeliome v0.214 PHC1 Zornitza Stark Marked gene: PHC1 as ready
Mendeliome v0.213 PHC1 Zornitza Stark Phenotypes for gene: PHC1 were changed from to Microcephaly 11, primary, autosomal recessive, MIM#615414
Mendeliome v0.210 PHC1 Zornitza Stark reviewed gene: PHC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23418308; Phenotypes: Microcephaly 11, primary, autosomal recessive, MIM#615414; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.210 TBX4 Zornitza Stark Marked gene: TBX4 as ready
Mendeliome v0.210 TBX4 Zornitza Stark Phenotypes for gene: TBX4 were changed from to Posterior amelia with pelvis and pulmonary hypoplasia; small patella syndrome
Mendeliome v0.207 TBX4 Zornitza Stark reviewed gene: TBX4: Rating: GREEN; Mode of pathogenicity: None; Publications: 31761294; Phenotypes: Posterior amelia with pelvis and pulmonary hypoplasia, small patella syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.207 OXR1 Zornitza Stark Marked gene: OXR1 as ready
Mendeliome v0.206 OXR1 Zornitza Stark gene: OXR1 was added
gene: OXR1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: OXR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OXR1 were set to 31785787
Phenotypes for gene: OXR1 were set to Intellectual disability; seizures; cerebellar atrophy
Review for gene: OXR1 was set to GREEN
Added comment: Five individuals from three families.
Sources: Literature
Mendeliome v0.205 TMX2 Zornitza Stark Marked gene: TMX2 as ready
Mendeliome v0.202 NOP10 Zornitza Stark Marked gene: NOP10 as ready
Mendeliome v0.197 NIN Zornitza Stark Marked gene: NIN as ready
Mendeliome v0.193 NECAP1 Zornitza Stark Marked gene: NECAP1 as ready
Mendeliome v0.193 NECAP1 Zornitza Stark Phenotypes for gene: NECAP1 were changed from to Epileptic encephalopathy, early infantile, 21, MIM#615833
Mendeliome v0.186 NDUFB9 Zornitza Stark Marked gene: NDUFB9 as ready
Mendeliome v0.186 NDUFB9 Zornitza Stark Phenotypes for gene: NDUFB9 were changed from to Mitochondrial complex I deficiency, nuclear type 24, MIM#618245
Mendeliome v0.182 NDUFB9 Zornitza Stark reviewed gene: NDUFB9: Rating: AMBER; Mode of pathogenicity: None; Publications: 22200994; Phenotypes: Mitochondrial complex I deficiency, nuclear type 24, MIM#618245; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.182 MRPS16 Zornitza Stark Marked gene: MRPS16 as ready
Mendeliome v0.182 MRPS16 Zornitza Stark Marked gene: MRPS16 as ready
Mendeliome v0.177 MRPL3 Zornitza Stark Marked gene: MRPL3 as ready
Mendeliome v0.172 WDR91 Sebastian Lunke Marked gene: WDR91 as ready
Mendeliome v0.170 CDK16 Zornitza Stark Marked gene: CDK16 as ready
Mendeliome v0.168 MIR17HG Zornitza Stark Marked gene: MIR17HG as ready
Mendeliome v0.166 KLF7 Zornitza Stark Marked gene: KLF7 as ready
Mendeliome v0.165 KLF7 Zornitza Stark gene: KLF7 was added
gene: KLF7 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: KLF7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KLF7 were set to 29251763
Phenotypes for gene: KLF7 were set to Intellectual disability
Review for gene: KLF7 was set to GREEN
Added comment: Four unrelated individuals with de novo missense variants; animal model data supportive.
Sources: Literature
Mendeliome v0.164 KANK1 Zornitza Stark Marked gene: KANK1 as ready
Mendeliome v0.160 IGF2 Zornitza Stark Marked gene: IGF2 as ready
Mendeliome v0.156 GORAB Zornitza Stark Marked gene: GORAB as ready
Mendeliome v0.154 GAD1 Zornitza Stark Marked gene: GAD1 as ready
Mendeliome v0.149 FRMPD4 Zornitza Stark Marked gene: FRMPD4 as ready
Mendeliome v0.148 FRMPD4 Zornitza Stark gene: FRMPD4 was added
gene: FRMPD4 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: FRMPD4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: FRMPD4 were set to 25644381; 29267967
Phenotypes for gene: FRMPD4 were set to Mental retardation, X-linked 104, MIM#300983
Review for gene: FRMPD4 was set to GREEN
Added comment: Multiple affected individuals from unrelated families reported.
Sources: Expert list
Mendeliome v0.147 FBXO31 Zornitza Stark Marked gene: FBXO31 as ready
Mendeliome v0.147 FBXO31 Zornitza Stark gene: FBXO31 was added
gene: FBXO31 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: FBXO31 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FBXO31 were set to 24623383
Phenotypes for gene: FBXO31 were set to Mental retardation, autosomal recessive 45, MIM#615979
Review for gene: FBXO31 was set to RED
Added comment: Single consanguineous family reported with homozygous truncating variant, limited functional evidence.
Sources: Expert list
Mendeliome v0.145 CFAP57 Sebastian Lunke Marked gene: CFAP57 as ready
Mendeliome v0.145 EXOSC2 Zornitza Stark Marked gene: EXOSC2 as ready
Mendeliome v0.145 EXOSC2 Zornitza Stark Phenotypes for gene: EXOSC2 were changed from to Short stature, hearing loss, retinitis pigmentosa, and distinctive facies, MIM# 617763
Mendeliome v0.140 ERMARD Zornitza Stark Marked gene: ERMARD as ready
Mendeliome v0.140 ERMARD Zornitza Stark Added comment: Comment when marking as ready: Single affected individual described in heterozygous missense in this gene; rest of evidence is based on cytogenetic data.
Mendeliome v0.140 ERMARD Zornitza Stark Gene: ermard has been classified as Red List (Low Evidence).
Mendeliome v0.140 ERMARD Zornitza Stark Phenotypes for gene: ERMARD were changed from to Periventricular nodular heterotopia 6, MIM#615544
Mendeliome v0.139 ERMARD Zornitza Stark Publications for gene: ERMARD were set to
Mendeliome v0.138 ERMARD Zornitza Stark Mode of inheritance for gene: ERMARD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.137 ERMARD Zornitza Stark Classified gene: ERMARD as Red List (low evidence)
Mendeliome v0.137 ERMARD Zornitza Stark Gene: ermard has been classified as Red List (Low Evidence).
Mendeliome v0.136 ERMARD Zornitza Stark reviewed gene: ERMARD: Rating: RED; Mode of pathogenicity: None; Publications: 24056535, 27087860; Phenotypes: Periventricular nodular heterotopia 6, MIM#615544; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.136 EOMES Zornitza Stark Marked gene: EOMES as ready
Mendeliome v0.131 DPYS Zornitza Stark Marked gene: DPYS as ready
Mendeliome v0.129 DNAJC12 Zornitza Stark Marked gene: DNAJC12 as ready
Mendeliome v0.126 DLG4 Zornitza Stark Marked gene: DLG4 as ready
Mendeliome v0.125 DDB1 Zornitza Stark Marked gene: DDB1 as ready
Mendeliome v0.123 CTNNA2 Zornitza Stark Marked gene: CTNNA2 as ready
Mendeliome v0.119 CP Zornitza Stark Marked gene: CP as ready
Mendeliome v0.117 COX4I2 Zornitza Stark Marked gene: COX4I2 as ready
Mendeliome v0.117 COX4I2 Zornitza Stark Phenotypes for gene: COX4I2 were changed from to Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, MIM#612714
Mendeliome v0.113 PDIA2 Zornitza Stark Marked gene: PDIA2 as ready
Mendeliome v0.109 COX14 Zornitza Stark Marked gene: COX14 as ready
Mendeliome v0.104 CNTN4 Zornitza Stark Marked gene: CNTN4 as ready
Mendeliome v0.102 CEP63 Zornitza Stark Marked gene: CEP63 as ready
Mendeliome v0.97 CDK6 Zornitza Stark Marked gene: CDK6 as ready
Mendeliome v0.97 CDK6 Zornitza Stark Phenotypes for gene: CDK6 were changed from to Microcephaly 12, primary, autosomal recessive, MIM#616080
Mendeliome v0.92 CD96 Zornitza Stark Marked gene: CD96 as ready
Mendeliome v0.87 WDFY3 Zornitza Stark Marked gene: WDFY3 as ready
Mendeliome v0.87 WDFY3 Zornitza Stark Phenotypes for gene: WDFY3 were changed from to Microcephaly 18, primary, autosomal dominant, MIM#617520
Mendeliome v0.83 SALL3 Zornitza Stark Marked gene: SALL3 as ready
Mendeliome v0.82 CCDC8 Zornitza Stark Marked gene: CCDC8 as ready
Mendeliome v0.79 CCDC78 Zornitza Stark Marked gene: CCDC78 as ready
Mendeliome v0.79 CCDC78 Zornitza Stark Phenotypes for gene: CCDC78 were changed from to Centronuclear myopathy 4, MIM#614807
Mendeliome v0.74 CACNA1G Zornitza Stark Marked gene: CACNA1G as ready
Mendeliome v0.74 CACNA1G Zornitza Stark Phenotypes for gene: CACNA1G were changed from to Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, MIM#618087
Mendeliome v0.69 CA8 Zornitza Stark Marked gene: CA8 as ready
Mendeliome v0.65 BDNF Zornitza Stark Marked gene: BDNF as ready
Mendeliome v0.64 BBIP1 Zornitza Stark Marked gene: BBIP1 as ready
Mendeliome v0.62 ADD3 Zornitza Stark Marked gene: ADD3 as ready
Mendeliome v0.61 ADD3 Zornitza Stark gene: ADD3 was added
gene: ADD3 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: ADD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADD3 were set to 29768408; 23836506
Phenotypes for gene: ADD3 were set to Cerebral palsy, spastic quadriplegic, 3, MIM#617008
Added comment: Four families reported in the literature with bi-allelic variants in this gene causing intellectual disability.
Sources: Expert list
Mendeliome v0.60 TENM1 Zornitza Stark Marked gene: TENM1 as ready
Mendeliome v0.58 MYEF2 Zornitza Stark Marked gene: MYEF2 as ready
Mendeliome v0.56 MYH7B Zornitza Stark Marked gene: MYH7B as ready
Mendeliome v0.53 SCRIB Zornitza Stark Marked gene: SCRIB as ready
Mendeliome v0.53 TTI1 Sebastian Lunke Marked gene: TTI1 as ready
Mendeliome v0.51 SLC27A5 Zornitza Stark Marked gene: SLC27A5 as ready
Mendeliome v0.49 TLR4 Zornitza Stark Marked gene: TLR4 as ready
Mendeliome v0.47 ERG Zornitza Stark Marked gene: ERG as ready
Mendeliome v0.46 TNRC6B Zornitza Stark Marked gene: TNRC6B as ready
Mendeliome v0.43 ZNF526 Zornitza Stark Marked gene: ZNF526 as ready
Mendeliome v0.43 ZNF526 Zornitza Stark Added comment: Comment on list classification: Found unpublished abstract linking to AR intellectual disability in consanguineous Iranian population, no functional data provided.
Mendeliome v0.41 HOXD4 Zornitza Stark Marked gene: HOXD4 as ready
Mendeliome v0.39 PAK6 Zornitza Stark Marked gene: PAK6 as ready
Mendeliome v0.38 TIRAP Zornitza Stark Marked gene: TIRAP as ready
Mendeliome v0.37 G6PC2 Zornitza Stark Marked gene: G6PC2 as ready
Mendeliome v0.36 CRYL1 Zornitza Stark Marked gene: CRYL1 as ready
Mendeliome v0.35 IQCG Zornitza Stark Marked gene: IQCG as ready
Mendeliome v0.34 FBF1 Zornitza Stark Marked gene: FBF1 as ready
Mendeliome v0.33 RNF135 Zornitza Stark Marked gene: RNF135 as ready
Mendeliome v0.31 LAMC1 Zornitza Stark Marked gene: LAMC1 as ready
Mendeliome v0.30 HCN2 Zornitza Stark Marked gene: HCN2 as ready
Mendeliome v0.28 B3GNT2 Zornitza Stark Marked gene: B3GNT2 as ready
Mendeliome v0.27 H3F3B Zornitza Stark Marked gene: H3F3B as ready
Mendeliome v0.24 MASTL Zornitza Stark Marked gene: MASTL as ready
Mendeliome v0.23 C3orf58 Zornitza Stark Marked gene: C3orf58 as ready
Mendeliome v0.22 PCLO Zornitza Stark Marked gene: PCLO as ready
Mendeliome v0.16 ARHGEF15 Zornitza Stark Marked gene: ARHGEF15 as ready
Mendeliome v0.16 ARHGEF15 Zornitza Stark Gene: arhgef15 has been classified as Red List (Low Evidence).
Mendeliome v0.16 ARHGEF15 Zornitza Stark Classified gene: ARHGEF15 as Red List (low evidence)
Mendeliome v0.16 ARHGEF15 Zornitza Stark Gene: arhgef15 has been classified as Red List (Low Evidence).
Mendeliome v0.15 ARHGEF15 Zornitza Stark reviewed gene: ARHGEF15: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.15 KDM6B Zornitza Stark Marked gene: KDM6B as ready
Mendeliome v0.14 KDM6B Zornitza Stark gene: KDM6B was added
gene: KDM6B was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: KDM6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KDM6B were set to 31124279
Phenotypes for gene: KDM6B were set to Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, MIM#618505
Review for gene: KDM6B was set to GREEN
Added comment: 12 unrelated patients reported with de novo variants in this gene, no functional evidence.
Sources: Literature
Mendeliome v0.9 LLGL1 Zornitza Stark Marked gene: LLGL1 as ready
Mendeliome v0.6 ASTN2 Zornitza Stark Marked gene: ASTN2 as ready
Mendeliome v0.4 DPP10 Zornitza Stark Marked gene: DPP10 as ready
Mendeliome v0.2 DLEC1 Zornitza Stark Marked gene: DLEC1 as ready
Mendeliome v0.0 YARS2 Zornitza Stark gene: YARS2 was added
gene: YARS2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: YARS2 was set to Unknown
Mendeliome v0.0 YARS Zornitza Stark gene: YARS was added
gene: YARS was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: YARS was set to Unknown
Mendeliome v0.0 WARS2 Zornitza Stark gene: WARS2 was added
gene: WARS2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WARS2 was set to Unknown
Mendeliome v0.0 VARS2 Zornitza Stark gene: VARS2 was added
gene: VARS2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VARS2 was set to Unknown
Mendeliome v0.0 VARS Zornitza Stark gene: VARS was added
gene: VARS was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VARS was set to Unknown
Mendeliome v0.0 TSPEAR Zornitza Stark gene: TSPEAR was added
gene: TSPEAR was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TSPEAR was set to Unknown
Mendeliome v0.0 TARS2 Zornitza Stark gene: TARS2 was added
gene: TARS2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TARS2 was set to Unknown
Mendeliome v0.0 STAR Zornitza Stark gene: STAR was added
gene: STAR was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: STAR was set to Unknown
Mendeliome v0.0 SPARC Zornitza Stark gene: SPARC was added
gene: SPARC was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SPARC was set to Unknown
Mendeliome v0.0 SMARCE1 Zornitza Stark gene: SMARCE1 was added
gene: SMARCE1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SMARCE1 was set to Unknown
Mendeliome v0.0 SMARCB1 Zornitza Stark gene: SMARCB1 was added
gene: SMARCB1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SMARCB1 was set to Unknown
Mendeliome v0.0 SMARCAL1 Zornitza Stark gene: SMARCAL1 was added
gene: SMARCAL1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SMARCAL1 was set to Unknown
Mendeliome v0.0 SMARCAD1 Zornitza Stark gene: SMARCAD1 was added
gene: SMARCAD1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SMARCAD1 was set to Unknown
Mendeliome v0.0 SMARCA4 Zornitza Stark gene: SMARCA4 was added
gene: SMARCA4 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SMARCA4 was set to Unknown
Mendeliome v0.0 SMARCA2 Zornitza Stark gene: SMARCA2 was added
gene: SMARCA2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SMARCA2 was set to Unknown
Mendeliome v0.0 SMARCA1 Zornitza Stark gene: SMARCA1 was added
gene: SMARCA1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SMARCA1 was set to Unknown
Mendeliome v0.0 SIGMAR1 Zornitza Stark gene: SIGMAR1 was added
gene: SIGMAR1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SIGMAR1 was set to Unknown
Mendeliome v0.0 SCARF2 Zornitza Stark gene: SCARF2 was added
gene: SCARF2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SCARF2 was set to Unknown
Mendeliome v0.0 SCARB2 Zornitza Stark gene: SCARB2 was added
gene: SCARB2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SCARB2 was set to Unknown
Mendeliome v0.0 SCARB1 Zornitza Stark gene: SCARB1 was added
gene: SCARB1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SCARB1 was set to Unknown
Mendeliome v0.0 SARS2 Zornitza Stark gene: SARS2 was added
gene: SARS2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SARS2 was set to Unknown
Mendeliome v0.0 SARDH Zornitza Stark gene: SARDH was added
gene: SARDH was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SARDH was set to Unknown
Mendeliome v0.0 SAR1B Zornitza Stark gene: SAR1B was added
gene: SAR1B was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SAR1B was set to Unknown
Mendeliome v0.0 RARS2 Zornitza Stark gene: RARS2 was added
gene: RARS2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RARS2 was set to Unknown
Mendeliome v0.0 RARS Zornitza Stark gene: RARS was added
gene: RARS was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RARS was set to Unknown
Mendeliome v0.0 RARB Zornitza Stark gene: RARB was added
gene: RARB was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RARB was set to Unknown
Mendeliome v0.0 RARA Zornitza Stark gene: RARA was added
gene: RARA was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RARA was set to Unknown
Mendeliome v0.0 QARS Zornitza Stark gene: QARS was added
gene: QARS was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: QARS was set to Unknown
Mendeliome v0.0 PRKAR1A Zornitza Stark gene: PRKAR1A was added
gene: PRKAR1A was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PRKAR1A was set to Unknown
Mendeliome v0.0 PPARG Zornitza Stark gene: PPARG was added
gene: PPARG was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PPARG was set to Unknown
Mendeliome v0.0 PPARA Zornitza Stark gene: PPARA was added
gene: PPARA was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PPARA was set to Unknown
Mendeliome v0.0 PARS2 Zornitza Stark gene: PARS2 was added
gene: PARS2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PARS2 was set to Unknown
Mendeliome v0.0 PARN Zornitza Stark gene: PARN was added
gene: PARN was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PARN was set to Unknown
Mendeliome v0.0 NARS2 Zornitza Stark gene: NARS2 was added
gene: NARS2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NARS2 was set to Unknown
Mendeliome v0.0 MARVELD2 Zornitza Stark gene: MARVELD2 was added
gene: MARVELD2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MARVELD2 was set to Unknown
Mendeliome v0.0 MARS2 Zornitza Stark gene: MARS2 was added
gene: MARS2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MARS2 was set to Unknown
Mendeliome v0.0 MARS Zornitza Stark gene: MARS was added
gene: MARS was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MARS was set to Unknown
Mendeliome v0.0 LPAR6 Zornitza Stark gene: LPAR6 was added
gene: LPAR6 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LPAR6 was set to Unknown
Mendeliome v0.0 LARS2 Zornitza Stark gene: LARS2 was added
gene: LARS2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LARS2 was set to Unknown
Mendeliome v0.0 LARP7 Zornitza Stark gene: LARP7 was added
gene: LARP7 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LARP7 was set to Unknown
Mendeliome v0.0 LARGE1 Zornitza Stark gene: LARGE1 was added
gene: LARGE1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LARGE1 was set to Unknown
Mendeliome v0.0 KARS Zornitza Stark gene: KARS was added
gene: KARS was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KARS was set to Unknown
Mendeliome v0.0 IFNAR2 Zornitza Stark gene: IFNAR2 was added
gene: IFNAR2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: IFNAR2 was set to Unknown
Mendeliome v0.0 IARS2 Zornitza Stark gene: IARS2 was added
gene: IARS2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: IARS2 was set to Unknown
Mendeliome v0.0 IARS Zornitza Stark gene: IARS was added
gene: IARS was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: IARS was set to Unknown
Mendeliome v0.0 HARS2 Zornitza Stark gene: HARS2 was added
gene: HARS2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HARS2 was set to Unknown
Mendeliome v0.0 HARS Zornitza Stark gene: HARS was added
gene: HARS was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HARS was set to Unknown
Mendeliome v0.0 GARS Zornitza Stark gene: GARS was added
gene: GARS was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GARS was set to Unknown
Mendeliome v0.0 FFAR4 Zornitza Stark gene: FFAR4 was added
gene: FFAR4 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FFAR4 was set to Unknown
Mendeliome v0.0 FARSB Zornitza Stark gene: FARSB was added
gene: FARSB was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FARSB was set to Unknown
Mendeliome v0.0 FARS2 Zornitza Stark gene: FARS2 was added
gene: FARS2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FARS2 was set to Unknown
Mendeliome v0.0 FAR1 Zornitza Stark gene: FAR1 was added
gene: FAR1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FAR1 was set to Unknown
Mendeliome v0.0 ERMARD Zornitza Stark gene: ERMARD was added
gene: ERMARD was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ERMARD was set to Unknown
Mendeliome v0.0 EDARADD Zornitza Stark gene: EDARADD was added
gene: EDARADD was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EDARADD was set to Unknown
Mendeliome v0.0 EDAR Zornitza Stark gene: EDAR was added
gene: EDAR was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EDAR was set to Unknown
Mendeliome v0.0 EARS2 Zornitza Stark gene: EARS2 was added
gene: EARS2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EARS2 was set to Unknown
Mendeliome v0.0 DARS2 Zornitza Stark gene: DARS2 was added
gene: DARS2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DARS2 was set to Unknown
Mendeliome v0.0 DARS Zornitza Stark gene: DARS was added
gene: DARS was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DARS was set to Unknown
Mendeliome v0.0 CARS2 Zornitza Stark gene: CARS2 was added
gene: CARS2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CARS2 was set to Unknown
Mendeliome v0.0 CARMIL2 Zornitza Stark gene: CARMIL2 was added
gene: CARMIL2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CARMIL2 was set to Unknown
Mendeliome v0.0 CARD9 Zornitza Stark gene: CARD9 was added
gene: CARD9 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CARD9 was set to Unknown
Mendeliome v0.0 CARD14 Zornitza Stark gene: CARD14 was added
gene: CARD14 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CARD14 was set to Unknown
Mendeliome v0.0 CARD11 Zornitza Stark gene: CARD11 was added
gene: CARD11 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CARD11 was set to Unknown
Mendeliome v0.0 ARX Zornitza Stark gene: ARX was added
gene: ARX was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARX was set to Unknown
Mendeliome v0.0 ARV1 Zornitza Stark gene: ARV1 was added
gene: ARV1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARV1 was set to Unknown
Mendeliome v0.0 ART4 Zornitza Stark gene: ART4 was added
gene: ART4 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ART4 was set to Unknown
Mendeliome v0.0 ARSE Zornitza Stark gene: ARSE was added
gene: ARSE was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARSE was set to Unknown
Mendeliome v0.0 ARSB Zornitza Stark gene: ARSB was added
gene: ARSB was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARSB was set to Unknown
Mendeliome v0.0 ARSA Zornitza Stark gene: ARSA was added
gene: ARSA was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARSA was set to Unknown
Mendeliome v0.0 ARPC1B Zornitza Stark gene: ARPC1B was added
gene: ARPC1B was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARPC1B was set to Unknown
Mendeliome v0.0 ARMS2 Zornitza Stark gene: ARMS2 was added
gene: ARMS2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARMS2 was set to Unknown
Mendeliome v0.0 ARMC9 Zornitza Stark gene: ARMC9 was added
gene: ARMC9 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARMC9 was set to Unknown
Mendeliome v0.0 ARMC8 Zornitza Stark gene: ARMC8 was added
gene: ARMC8 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARMC8 was set to Unknown
Mendeliome v0.0 ARMC4 Zornitza Stark gene: ARMC4 was added
gene: ARMC4 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARMC4 was set to Unknown
Mendeliome v0.0 ARMC1 Zornitza Stark gene: ARMC1 was added
gene: ARMC1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARMC1 was set to Unknown
Mendeliome v0.0 ARL6 Zornitza Stark gene: ARL6 was added
gene: ARL6 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARL6 was set to Unknown
Mendeliome v0.0 ARL2BP Zornitza Stark gene: ARL2BP was added
gene: ARL2BP was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARL2BP was set to Unknown
Mendeliome v0.0 ARL13B Zornitza Stark gene: ARL13B was added
gene: ARL13B was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARL13B was set to Unknown
Mendeliome v0.0 ARL11 Zornitza Stark gene: ARL11 was added
gene: ARL11 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARL11 was set to Unknown
Mendeliome v0.0 ARID5B Zornitza Stark gene: ARID5B was added
gene: ARID5B was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARID5B was set to Unknown
Mendeliome v0.0 ARID2 Zornitza Stark gene: ARID2 was added
gene: ARID2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARID2 was set to Unknown
Mendeliome v0.0 ARID1B Zornitza Stark gene: ARID1B was added
gene: ARID1B was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARID1B was set to Unknown
Mendeliome v0.0 ARID1A Zornitza Stark gene: ARID1A was added
gene: ARID1A was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARID1A was set to Unknown
Mendeliome v0.0 ARHGEF9 Zornitza Stark gene: ARHGEF9 was added
gene: ARHGEF9 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARHGEF9 was set to Unknown
Mendeliome v0.0 ARHGEF6 Zornitza Stark gene: ARHGEF6 was added
gene: ARHGEF6 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARHGEF6 was set to Unknown
Mendeliome v0.0 ARHGEF18 Zornitza Stark gene: ARHGEF18 was added
gene: ARHGEF18 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARHGEF18 was set to Unknown
Mendeliome v0.0 ARHGEF15 Zornitza Stark gene: ARHGEF15 was added
gene: ARHGEF15 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARHGEF15 was set to Unknown
Mendeliome v0.0 ARHGEF10 Zornitza Stark gene: ARHGEF10 was added
gene: ARHGEF10 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARHGEF10 was set to Unknown
Mendeliome v0.0 ARHGDIA Zornitza Stark gene: ARHGDIA was added
gene: ARHGDIA was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARHGDIA was set to Unknown
Mendeliome v0.0 ARHGAP31 Zornitza Stark gene: ARHGAP31 was added
gene: ARHGAP31 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARHGAP31 was set to Unknown
Mendeliome v0.0 ARHGAP29 Zornitza Stark gene: ARHGAP29 was added
gene: ARHGAP29 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARHGAP29 was set to Unknown
Mendeliome v0.0 ARHGAP26 Zornitza Stark gene: ARHGAP26 was added
gene: ARHGAP26 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARHGAP26 was set to Unknown
Mendeliome v0.0 ARHGAP24 Zornitza Stark gene: ARHGAP24 was added
gene: ARHGAP24 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARHGAP24 was set to Unknown
Mendeliome v0.0 ARG1 Zornitza Stark gene: ARG1 was added
gene: ARG1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARG1 was set to Unknown
Mendeliome v0.0 ARFGEF2 Zornitza Stark gene: ARFGEF2 was added
gene: ARFGEF2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARFGEF2 was set to Unknown
Mendeliome v0.0 ARCN1 Zornitza Stark gene: ARCN1 was added
gene: ARCN1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARCN1 was set to Unknown
Mendeliome v0.0 AR Zornitza Stark gene: AR was added
gene: AR was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AR was set to Unknown
Mendeliome v0.0 ADAR Zornitza Stark gene: ADAR was added
gene: ADAR was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ADAR was set to Unknown
Mendeliome v0.0 AARS2 Zornitza Stark gene: AARS2 was added
gene: AARS2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AARS2 was set to Unknown
Mendeliome v0.0 AARS Zornitza Stark gene: AARS was added
gene: AARS was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AARS was set to Unknown