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Mendeliome v1.3792 IRX4 Lucy Spencer Phenotypes for gene: IRX4 were changed from Ventricular septal defect to Congenital heart disease MONDO:0005453, IRX4-related
Mendeliome v1.3791 IQSEC3 Lucy Spencer Phenotypes for gene: IQSEC3 were changed from Intellectual disability to Intellectual disability MONDO:0001071, IQSEC3-related
Mendeliome v1.3790 IQSEC2 Lucy Spencer Phenotypes for gene: IQSEC2 were changed from Intellectual developmental disorder, X-linked 1 MIM#309530, MONDO:0010656; Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347 to Intellectual developmental disorder, X-linked 1 MIM#309530
Mendeliome v1.3789 IQGAP3 Lucy Spencer Phenotypes for gene: IQGAP3 were changed from Hereditary neuropathy to Hereditary peripheral neuropathy MONDO:0020127, IQGAP3-related
Ciliopathies v1.95 IQCE Lucy Spencer Phenotypes for gene: IQCE were changed from Postaxial polydactyly to Polydactyly, postaxial, type A7 MIM#617642
Polydactyly v0.297 IQCE Lucy Spencer Phenotypes for gene: IQCE were changed from Postaxial polydactyly to Polydactyly, postaxial, type A7 MIM#617642
Mendeliome v1.3788 IQCE Lucy Spencer Phenotypes for gene: IQCE were changed from Postaxial polydactyly to Polydactyly, postaxial, type A7 MIM#617642
Mendeliome v1.3787 INSR Lucy Spencer Phenotypes for gene: INSR were changed from Hyperinsulinemic hypoglycemia, familial, 5, MIM# 609968; Leprechaunism, MIM# 246200; Rabson-Mendenhall syndrome, MIM# 262190 to Hyperinsulinemic hypoglycemia, familial, 5, MIM# 609968; Donohue syndrome MIM#246200; Rabson-Mendenhall syndrome, MIM# 262190
Mendeliome v1.3786 IMPDH2 Lucy Spencer Phenotypes for gene: IMPDH2 were changed from Neurodevelopmental disorder with dystonia to Neurodevelopmental disorder (MONDO:0700092), IMPDH2-related
Mendeliome v1.3785 IMPDH1 Lucy Spencer Phenotypes for gene: IMPDH1 were changed from Leber congenital amaurosis 11 (MIM# 613837); Retinitis pigmentosa 10 (MIM# 180105) to IMPDH1-related retinopathy MONDO:1040051; Leber congenital amaurosis 11 (MIM# 613837); Retinitis pigmentosa 10 (MIM# 180105)
Mendeliome v1.3784 IMPDH1 Lucy Spencer commented on gene: IMPDH1
Mendeliome v1.3784 IMMP2L Lucy Spencer Phenotypes for gene: IMMP2L were changed from Autism to Autism MONDO:0005260, IMMP2L-related
Mendeliome v1.3783 ILK Lucy Spencer Phenotypes for gene: ILK were changed from Dilated cardiomyopathy to Dilated cardiomyopathy MONDO:0005021, ILK-related
Mendeliome v1.3782 IL2RG Lucy Spencer commented on gene: IL2RG
Mendeliome v1.3782 IL1RAP Lucy Spencer Phenotypes for gene: IL1RAP were changed from Steroid-sensitive nephrotic syndrome to Nephrotic syndrome of childhood - steroid sensitive MONDO:0044781, IL1RAP-related
Mendeliome v1.3781 IL12RB2 Lucy Spencer Phenotypes for gene: IL12RB2 were changed from Susceptibility to mycobacteria and Salmonella to Immunodeficiency disease MONDO:0021094, IL12RB1-related
Mendeliome v1.3780 IL10 Lucy Spencer Phenotypes for gene: IL10 were changed from Diseases of Immune Dysregulation; Early-onset inflammatory bowel disease to Immune system disorder MONDO:0005046, IL10-related; IL10-related early-onset inflammatory bowel disease MONDO:0016542
Mendeliome v1.3779 IL10 Lucy Spencer commented on gene: IL10
Mendeliome v1.3779 IKBKG Lucy Spencer Phenotypes for gene: IKBKG were changed from Ectodermal dysplasia and immunodeficiency 1, MIM# 300291; Immunodeficiency 33 , MIM#300636; Incontinentia pigmenti, MIM# 308300; Autoinflammatory disease, systemic, X-linked, MIM# 301081 to IKBKG-related immunodeficiency with or without ectodermal dysplasia MONDO:0100162; Ectodermal dysplasia and immunodeficiency 1, MIM# 300291; Immunodeficiency 33 , MIM#300636; Incontinentia pigmenti, MIM# 308300; Autoinflammatory disease, systemic, X-linked, MIM# 301081
Mendeliome v1.3778 IKBKG Lucy Spencer commented on gene: IKBKG
Mendeliome v1.3778 IGHMBP2 Lucy Spencer Phenotypes for gene: IGHMBP2 were changed from Neuronopathy, distal hereditary motor, type VI, MIM# 604320; Charcot-Marie-Tooth disease, axonal, type 2S, MIM# 616155 to Hereditary peripheral neuropathy MONDO:0020127, IGHMBP2-related; Neuronopathy, distal hereditary motor, type VI, MIM# 604320; Charcot-Marie-Tooth disease, axonal, type 2S, MIM# 616155
Mendeliome v1.3777 IGHMBP2 Lucy Spencer commented on gene: IGHMBP2
Mendeliome v1.3777 IFT74 Lucy Spencer Phenotypes for gene: IFT74 were changed from Bardet-Biedl syndrome 20, MIM# 617119; Joubert syndrome 40, MIM# 619582; Spermatogenic failure 58, MIM# 619585 to Ciliopathy MONDO:0005308, IFT74-related; Bardet-Biedl syndrome 20, MIM# 617119; Joubert syndrome 40, MIM# 619582; Spermatogenic failure 58, MIM# 619585
Mendeliome v1.3776 IFT74 Lucy Spencer commented on gene: IFT74
Mendeliome v1.3776 IFT172 Lucy Spencer Phenotypes for gene: IFT172 were changed from Retinitis pigmentosa 71 616394; Short-rib thoracic dysplasia 10 with or without polydactyly - 615630; Bardet-Biedl syndrome 20, MIM# 619471 to Ciliopathy MONDO:0005308, IFT172-related; Retinitis pigmentosa 71 616394; Short-rib thoracic dysplasia 10 with or without polydactyly - 615630; Bardet-Biedl syndrome 20, MIM# 619471
Mendeliome v1.3775 IFT172 Lucy Spencer commented on gene: IFT172
Mendeliome v1.3775 IFT140 Lucy Spencer Phenotypes for gene: IFT140 were changed from Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; Retinitis pigmentosa 80, MIM# 617781; {Polycystic kidney disease 9, susceptibility to} MIM#621164; Cranioectodermal dysplasia 5, MIM# 621180 to IFT140-related recessive ciliopathy MONDO:0100509; Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; Retinitis pigmentosa 80, MIM# 617781; {Polycystic kidney disease 9, susceptibility to} MIM#621164; Cranioectodermal dysplasia 5, MIM# 621180
Mendeliome v1.3774 IFT140 Lucy Spencer commented on gene: IFT140
Hereditary Neuropathy - complex v1.44 IFRD1 Lucy Spencer Phenotypes for gene: IFRD1 were changed from autosomal dominant sensory/motor neuropathy with ataxia (OMIM#607458); HMSN to Hereditary spastic paraplegia MONDO:0019064, IFRD1-related
Hereditary Spastic Paraplegia v1.129 IFRD1 Lucy Spencer Phenotypes for gene: IFRD1 were changed from autosomal dominant hereditary spastic paraplegia associated with peripheral neuropathy and ataxia to Hereditary spastic paraplegia MONDO:0019064, IFRD1-related
Ataxia v1.157 IFRD1 Lucy Spencer Phenotypes for gene: IFRD1 were changed from Spinocerebellar ataxia 18 MIM#607458 to Hereditary spastic paraplegia MONDO:0019064, IFRD1-related
Mendeliome v1.3774 IFRD1 Lucy Spencer Phenotypes for gene: IFRD1 were changed from Hereditary spastic paraplegia; peripheral neuropathy; ataxia to Hereditary spastic paraplegia MONDO:0019064, IFRD1-related
Mendeliome v1.3773 PLXNA1 Lucy Spencer Publications for gene: PLXNA1 were set to 34054129
Mendeliome v1.3772 PLXNA1 Lucy Spencer changed review comment from: All 3 de novo missense variants in Dworschak et al. (2021) are present in gnomad v4 with 21, 2 and 4 heterozygotes. There is an additional de novo patient in Park 2017 PMID: 28464511, however their variant is also present in gnomad v4 with 5 heterozygotes. There is no new literature supporting the dominant association

The monoallelic assertion for this gene is now RED, still GREEN for biallelic; to: All 3 de novo missense variants in Dworschak et al. (2021) are present in gnomad v4 with 21, 2 and 4 heterozygotes. There is an additional de novo patient in Park 2017 PMID: 28464511, however their variant is also present in gnomad v4 with 5 heterozygotes. There is no recent literature supporting the dominant association

The monoallelic assertion for this gene is now RED, still GREEN for biallelic
Lipodystrophy_Lipoatrophy v1.25 ABL1 Sinead OSullivan gene: ABL1 was added
gene: ABL1 was added to Lipodystrophy_Lipoatrophy. Sources: Literature
Mode of inheritance for gene: ABL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ABL1 were set to PMID: 28288113; PMID: 32643838
Review for gene: ABL1 was set to GREEN
Added comment: PMID: 32643838 reports three unrelated patients with lipodystrophy like features
Sources: Literature
Mendeliome v1.3772 PLXNA1 Lucy Spencer edited their review of gene: PLXNA1: Changed rating: RED; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v1.3772 PLXNA1 Lucy Spencer changed review comment from: All 3 de novo missense variants in Dworschak et al. (2021) are present in gnomad v4 with 21, 2 and 4 heterozygotes. There is an additional de novo patient in Park 2017 PMID: 28464511, however their variant is also present in gnomad v4 with 5 heterozygotes. There is no new literature supporting the dominant association

The monoallelic assertion for this gene is now RED, still GREEN for biallelic; to: All 3 de novo missense variants in Dworschak et al. (2021) are present in gnomad v4 with 21, 2 and 4 heterozygotes. There is an additional de novo patient in Park 2017 PMID: 28464511, however their variant is also present in gnomad v4 with 5 heterozygotes. There is no new literature supporting the dominant association

The monoallelic assertion for this gene is now RED, still GREEN for biallelic
Mendeliome v1.3772 PLXNA1 Lucy Spencer Mode of inheritance for gene: PLXNA1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.3771 PLXNA1 Lucy Spencer commented on gene: PLXNA1
Mendeliome v1.3771 ICE1 Lucy Spencer Phenotypes for gene: ICE1 were changed from Intellectual disability, cerebral atrophy to Intellectual disability (MONDO:0001071), ICE1-related
Mendeliome v1.3770 IBA57 Lucy Spencer commented on gene: IBA57
Mendeliome v1.3770 HUWE1 Lucy Spencer Phenotypes for gene: HUWE1 were changed from Mental retardation, X-linked syndromic, Turner type; Say-Meyer syndrome; Juberg-Marsidi syndrome to Intellectual developmental disorder, X-linked syndromic, Turner type MIM#309590
Mendeliome v1.3769 HTRA1 Lucy Spencer Phenotypes for gene: HTRA1 were changed from {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 to Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy 2 MIM#616779; Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 2 MIM#600142
Mendeliome v1.3768 HSPB1 Lucy Spencer commented on gene: HSPB1
Mendeliome v1.3768 HOXB6 Lucy Spencer Phenotypes for gene: HOXB6 were changed from Hypospadias to Hypospadias MONDO:0005345, HOXB6-related
Pituitary hormone deficiency v0.166 ZSWIM6 Chirag Patel Marked gene: ZSWIM6 as ready
Pituitary hormone deficiency v0.166 ZSWIM6 Chirag Patel Gene: zswim6 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.166 ZIC2 Chirag Patel Marked gene: ZIC2 as ready
Pituitary hormone deficiency v0.166 ZIC2 Chirag Patel Gene: zic2 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.166 SLC20A1 Chirag Patel Mode of inheritance for gene: SLC20A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pituitary hormone deficiency v0.165 SLC20A1 Chirag Patel Marked gene: SLC20A1 as ready
Pituitary hormone deficiency v0.165 SLC20A1 Chirag Patel Gene: slc20a1 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.165 SLC20A1 Chirag Patel Phenotypes for gene: SLC20A1 were changed from No OMIM number to Bladder-Exstrophy-Epispadias Complex (BEEC)
Pituitary hormone deficiency v0.164 SLC15A4 Chirag Patel Marked gene: SLC15A4 as ready
Pituitary hormone deficiency v0.164 SLC15A4 Chirag Patel Gene: slc15a4 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.164 SIX3 Chirag Patel Marked gene: SIX3 as ready
Pituitary hormone deficiency v0.164 SIX3 Chirag Patel Gene: six3 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.164 SEMA3E Chirag Patel Marked gene: SEMA3E as ready
Pituitary hormone deficiency v0.164 SEMA3E Chirag Patel Gene: sema3e has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.164 PTCH1 Chirag Patel Marked gene: PTCH1 as ready
Pituitary hormone deficiency v0.164 PTCH1 Chirag Patel Gene: ptch1 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.164 PSTPIP1 Chirag Patel Marked gene: PSTPIP1 as ready
Pituitary hormone deficiency v0.164 PSTPIP1 Chirag Patel Gene: pstpip1 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.164 PAX6 Chirag Patel Marked gene: PAX6 as ready
Pituitary hormone deficiency v0.164 PAX6 Chirag Patel Gene: pax6 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.164 NSMF Chirag Patel Marked gene: NSMF as ready
Pituitary hormone deficiency v0.164 NSMF Chirag Patel Gene: nsmf has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.164 NODAL Chirag Patel Marked gene: NODAL as ready
Pituitary hormone deficiency v0.164 NODAL Chirag Patel Gene: nodal has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.164 NODAL Chirag Patel Phenotypes for gene: NODAL were changed from Holoprosencephaly; Heterotaxy, visceral, 5 (270100) to Heterotaxy, visceral, 5 (270100)
Pituitary hormone deficiency v0.163 NHLH2 Chirag Patel Marked gene: NHLH2 as ready
Pituitary hormone deficiency v0.163 NHLH2 Chirag Patel Gene: nhlh2 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.163 IL17RD Chirag Patel Marked gene: IL17RD as ready
Pituitary hormone deficiency v0.163 IL17RD Chirag Patel Gene: il17rd has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.163 HS6ST1 Chirag Patel Marked gene: HS6ST1 as ready
Pituitary hormone deficiency v0.163 HS6ST1 Chirag Patel Gene: hs6st1 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.163 HNRNPU Chirag Patel Marked gene: HNRNPU as ready
Pituitary hormone deficiency v0.163 HNRNPU Chirag Patel Gene: hnrnpu has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.163 HHIP Chirag Patel Marked gene: HHIP as ready
Pituitary hormone deficiency v0.163 HHIP Chirag Patel Gene: hhip has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.163 GPR161 Chirag Patel Marked gene: GPR161 as ready
Pituitary hormone deficiency v0.163 GPR161 Chirag Patel Gene: gpr161 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.163 GHRH Chirag Patel Marked gene: GHRH as ready
Pituitary hormone deficiency v0.163 GHRH Chirag Patel Gene: ghrh has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.163 FOXH1 Chirag Patel Marked gene: FOXH1 as ready
Pituitary hormone deficiency v0.163 FOXH1 Chirag Patel Gene: foxh1 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.163 FOXH1 Chirag Patel Mode of inheritance for gene: FOXH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pituitary hormone deficiency v0.162 FLRT3 Chirag Patel Marked gene: FLRT3 as ready
Pituitary hormone deficiency v0.162 FLRT3 Chirag Patel Gene: flrt3 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.162 DUSP6 Chirag Patel Marked gene: DUSP6 as ready
Pituitary hormone deficiency v0.162 DUSP6 Chirag Patel Gene: dusp6 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.162 BMP2 Chirag Patel Marked gene: BMP2 as ready
Pituitary hormone deficiency v0.162 BMP2 Chirag Patel Gene: bmp2 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.162 AXL Chirag Patel Marked gene: AXL as ready
Pituitary hormone deficiency v0.162 AXL Chirag Patel Gene: axl has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.162 TGIF1 Chirag Patel Marked gene: TGIF1 as ready
Pituitary hormone deficiency v0.162 TGIF1 Chirag Patel Gene: tgif1 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.162 SPRY4 Chirag Patel Marked gene: SPRY4 as ready
Pituitary hormone deficiency v0.162 SPRY4 Chirag Patel Gene: spry4 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.162 SHH Chirag Patel Marked gene: SHH as ready
Pituitary hormone deficiency v0.162 SHH Chirag Patel Gene: shh has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.162 PRDM13 Chirag Patel Marked gene: PRDM13 as ready
Pituitary hormone deficiency v0.162 PRDM13 Chirag Patel Gene: prdm13 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.162 NDNF Chirag Patel Marked gene: NDNF as ready
Pituitary hormone deficiency v0.162 NDNF Chirag Patel Gene: ndnf has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.162 KISS1 Chirag Patel Marked gene: KISS1 as ready
Pituitary hormone deficiency v0.162 KISS1 Chirag Patel Gene: kiss1 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.162 FEZF1 Chirag Patel Marked gene: FEZF1 as ready
Pituitary hormone deficiency v0.162 FEZF1 Chirag Patel Gene: fezf1 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.162 CLPP Chirag Patel Marked gene: CLPP as ready
Pituitary hormone deficiency v0.162 CLPP Chirag Patel Gene: clpp has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.162 CCDC141 Chirag Patel Marked gene: CCDC141 as ready
Pituitary hormone deficiency v0.162 CCDC141 Chirag Patel Gene: ccdc141 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.162 ARNT2 Chirag Patel Marked gene: ARNT2 as ready
Pituitary hormone deficiency v0.162 ARNT2 Chirag Patel Gene: arnt2 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.162 TFR2 Chirag Patel Marked gene: TFR2 as ready
Pituitary hormone deficiency v0.162 TFR2 Chirag Patel Gene: tfr2 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.162 TFR2 Chirag Patel Mode of inheritance for gene: TFR2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Pituitary hormone deficiency v0.161 TFR2 Chirag Patel Mode of inheritance for gene: TFR2 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pituitary hormone deficiency v0.160 TCF12 Chirag Patel Marked gene: TCF12 as ready
Pituitary hormone deficiency v0.160 TCF12 Chirag Patel Gene: tcf12 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.160 TBX19 Chirag Patel Marked gene: TBX19 as ready
Pituitary hormone deficiency v0.160 TBX19 Chirag Patel Gene: tbx19 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.160 TACR3 Chirag Patel Marked gene: TACR3 as ready
Pituitary hormone deficiency v0.160 TACR3 Chirag Patel Gene: tacr3 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.160 TAC3 Chirag Patel Marked gene: TAC3 as ready
Pituitary hormone deficiency v0.160 TAC3 Chirag Patel Gene: tac3 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.160 SOX2 Chirag Patel Marked gene: SOX2 as ready
Pituitary hormone deficiency v0.160 SOX2 Chirag Patel Gene: sox2 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.160 SOX10 Chirag Patel Marked gene: SOX10 as ready
Pituitary hormone deficiency v0.160 SOX10 Chirag Patel Gene: sox10 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.160 SLC40A1 Chirag Patel Marked gene: SLC40A1 as ready
Pituitary hormone deficiency v0.160 SLC40A1 Chirag Patel Gene: slc40a1 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.160 SLC29A3 Chirag Patel Marked gene: SLC29A3 as ready
Pituitary hormone deficiency v0.160 SLC29A3 Chirag Patel Gene: slc29a3 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.160 SEMA3F Chirag Patel Marked gene: SEMA3F as ready
Pituitary hormone deficiency v0.160 SEMA3F Chirag Patel Gene: sema3f has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.160 SEMA3A Chirag Patel Marked gene: SEMA3A as ready
Pituitary hormone deficiency v0.160 SEMA3A Chirag Patel Gene: sema3a has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.160 PROP1 Chirag Patel Marked gene: PROP1 as ready
Pituitary hormone deficiency v0.160 PROP1 Chirag Patel Gene: prop1 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.160 PROK2 Chirag Patel Marked gene: PROK2 as ready
Pituitary hormone deficiency v0.160 PROK2 Chirag Patel Gene: prok2 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.160 PNPLA6 Chirag Patel Marked gene: PNPLA6 as ready
Pituitary hormone deficiency v0.160 PNPLA6 Chirag Patel Gene: pnpla6 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.160 PLXNA3 Chirag Patel Marked gene: PLXNA3 as ready
Pituitary hormone deficiency v0.160 PLXNA3 Chirag Patel Gene: plxna3 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.160 PITX2 Chirag Patel Marked gene: PITX2 as ready
Pituitary hormone deficiency v0.160 PITX2 Chirag Patel Gene: pitx2 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.160 OTX2 Chirag Patel Marked gene: OTX2 as ready
Pituitary hormone deficiency v0.160 OTX2 Chirag Patel Gene: otx2 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.160 NR0B1 Chirag Patel Phenotypes for gene: NR0B1 were changed from Adrenal hypoplasia, congenital (MIM# 300200); 46XY sex reversal 2, dosage-sensitive, MIM# 300018 to Adrenal hypoplasia, congenital (MIM# 300200)
Pituitary hormone deficiency v0.159 NR0B1 Chirag Patel Marked gene: NR0B1 as ready
Pituitary hormone deficiency v0.159 NR0B1 Chirag Patel Gene: nr0b1 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.159 LHX4 Chirag Patel Marked gene: LHX4 as ready
Pituitary hormone deficiency v0.159 LHX4 Chirag Patel Gene: lhx4 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.159 LHX3 Chirag Patel Marked gene: LHX3 as ready
Pituitary hormone deficiency v0.159 LHX3 Chirag Patel Gene: lhx3 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.159 LHB Chirag Patel Marked gene: LHB as ready
Pituitary hormone deficiency v0.159 LHB Chirag Patel Gene: lhb has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.159 KLB Chirag Patel Marked gene: KLB as ready
Pituitary hormone deficiency v0.159 KLB Chirag Patel Gene: klb has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.159 KISS1R Chirag Patel Marked gene: KISS1R as ready
Pituitary hormone deficiency v0.159 KISS1R Chirag Patel Gene: kiss1r has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.159 KCNQ1 Chirag Patel Classified gene: KCNQ1 as Amber List (moderate evidence)
Pituitary hormone deficiency v0.159 KCNQ1 Chirag Patel Gene: kcnq1 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.158 HFE2 Chirag Patel Marked gene: HFE2 as ready
Pituitary hormone deficiency v0.158 HFE2 Chirag Patel Gene: hfe2 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.158 HFE Chirag Patel Marked gene: HFE as ready
Pituitary hormone deficiency v0.158 HFE Chirag Patel Gene: hfe has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.158 HESX1 Chirag Patel Marked gene: HESX1 as ready
Pituitary hormone deficiency v0.158 HESX1 Chirag Patel Gene: hesx1 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.158 HAMP Chirag Patel Marked gene: HAMP as ready
Pituitary hormone deficiency v0.158 HAMP Chirag Patel Gene: hamp has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.158 GNRHR Chirag Patel Marked gene: GNRHR as ready
Pituitary hormone deficiency v0.158 GNRHR Chirag Patel Gene: gnrhr has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.158 GNRH1 Chirag Patel Marked gene: GNRH1 as ready
Pituitary hormone deficiency v0.158 GNRH1 Chirag Patel Gene: gnrh1 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.158 GLI3 Chirag Patel Marked gene: GLI3 as ready
Pituitary hormone deficiency v0.158 GLI3 Chirag Patel Gene: gli3 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.158 GLI3 Chirag Patel Publications for gene: GLI3 were set to 24736735; 15739154
Pituitary hormone deficiency v0.157 GLI2 Chirag Patel Marked gene: GLI2 as ready
Pituitary hormone deficiency v0.157 GLI2 Chirag Patel Gene: gli2 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.157 GLI2 Chirag Patel Publications for gene: GLI2 were set to 14581620; 25878059
Pituitary hormone deficiency v0.156 GHRHR Chirag Patel Marked gene: GHRHR as ready
Pituitary hormone deficiency v0.156 GHRHR Chirag Patel Gene: ghrhr has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.156 GHRHR Chirag Patel Publications for gene: GHRHR were set to
Pituitary hormone deficiency v0.155 GHR Chirag Patel Marked gene: GHR as ready
Pituitary hormone deficiency v0.155 GHR Chirag Patel Gene: ghr has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.155 GHR Chirag Patel Mode of inheritance for gene: GHR was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Pituitary hormone deficiency v0.154 GHR Chirag Patel Publications for gene: GHR were set to
Pituitary hormone deficiency v0.153 GH1 Chirag Patel Publications for gene: GH1 were set to
Pituitary hormone deficiency v0.152 GH1 Chirag Patel Marked gene: GH1 as ready
Pituitary hormone deficiency v0.152 GH1 Chirag Patel Gene: gh1 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.152 FSHB Chirag Patel Marked gene: FSHB as ready
Pituitary hormone deficiency v0.152 FSHB Chirag Patel Gene: fshb has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.152 FOXA2 Chirag Patel Marked gene: FOXA2 as ready
Pituitary hormone deficiency v0.152 FOXA2 Chirag Patel Gene: foxa2 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.152 FGFR1 Chirag Patel Marked gene: FGFR1 as ready
Pituitary hormone deficiency v0.152 FGFR1 Chirag Patel Gene: fgfr1 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.152 FGF8 Chirag Patel Marked gene: FGF8 as ready
Pituitary hormone deficiency v0.152 FGF8 Chirag Patel Gene: fgf8 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.152 FGF17 Chirag Patel Marked gene: FGF17 as ready
Pituitary hormone deficiency v0.152 FGF17 Chirag Patel Gene: fgf17 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.152 DCAF17 Chirag Patel Marked gene: DCAF17 as ready
Pituitary hormone deficiency v0.152 DCAF17 Chirag Patel Gene: dcaf17 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.152 CUL4B Chirag Patel Marked gene: CUL4B as ready
Pituitary hormone deficiency v0.152 CUL4B Chirag Patel Gene: cul4b has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.152 BRAF Chirag Patel Marked gene: BRAF as ready
Pituitary hormone deficiency v0.152 BRAF Chirag Patel Gene: braf has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.152 BMP4 Chirag Patel Marked gene: BMP4 as ready
Pituitary hormone deficiency v0.152 BMP4 Chirag Patel Gene: bmp4 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.152 ARHGAP35 Chirag Patel Marked gene: ARHGAP35 as ready
Pituitary hormone deficiency v0.152 ARHGAP35 Chirag Patel Gene: arhgap35 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.152 ANOS1 Chirag Patel Marked gene: ANOS1 as ready
Pituitary hormone deficiency v0.152 ANOS1 Chirag Patel Gene: anos1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.364 Sangavi Sivagnanasundram Added reviews for gene FAM20B from panel Mendeliome
Mendeliome v1.3767 FAM20B Sangavi Sivagnanasundram reviewed gene: FAM20B: Rating: GREEN; Mode of pathogenicity: None; Publications: 41277483, 30847897; Phenotypes: Desbuquois dysplasia MONDO:0015426; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pituitary hormone deficiency v0.152 ZSWIM6 Chirag Patel reviewed gene: ZSWIM6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Pituitary hormone deficiency v0.152 Chirag Patel Added reviews for gene ZSWIM6 from panel Mendeliome
Pituitary hormone deficiency v0.151 ZIC2 Chirag Patel reviewed gene: ZIC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Pituitary hormone deficiency v0.151 Chirag Patel Added reviews for gene ZIC2 from panel Mendeliome
Pituitary hormone deficiency v0.150 SLC20A1 Chirag Patel reviewed gene: SLC20A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Pituitary hormone deficiency v0.150 Chirag Patel Added reviews for gene SLC20A1 from panel Mendeliome
Mendeliome v1.3767 Chirag Patel Added reviews for gene SLC15A4 from panel Pituitary hormone deficiency
Pituitary hormone deficiency v0.149 SLC15A4 Chirag Patel reviewed gene: SLC15A4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Pituitary hormone deficiency v0.149 PTCH1 Chirag Patel edited their review of gene: PTCH1: Added comment: Pituitary hormone deficiency not a known feature.; Changed rating: RED
Pituitary hormone deficiency v0.149 Chirag Patel Added reviews for gene PTCH1 from panel Holoprosencephaly and septo-optic dysplasia
Pituitary hormone deficiency v0.148 PSTPIP1 Chirag Patel reviewed gene: PSTPIP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Pituitary hormone deficiency v0.148 PAX6 Chirag Patel reviewed gene: PAX6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Pituitary hormone deficiency v0.148 Chirag Patel Added reviews for gene PAX6 from panel Mendeliome
Pituitary hormone deficiency v0.147 NODAL Chirag Patel reviewed gene: NODAL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Pituitary hormone deficiency v0.147 Chirag Patel Added reviews for gene NODAL from panel Mendeliome
Pituitary hormone deficiency v0.146 HNRNPU Chirag Patel reviewed gene: HNRNPU: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Pituitary hormone deficiency v0.146 Chirag Patel Added reviews for gene HNRNPU from panel Intellectual disability syndromic and non-syndromic
Intellectual disability syndromic and non-syndromic v1.496 HNRNPU Chirag Patel Deleted their review
Intellectual disability syndromic and non-syndromic v1.496 HNRNPU Chirag Patel Deleted their comment
Intellectual disability syndromic and non-syndromic v1.496 HNRNPU Chirag Patel reviewed gene: HNRNPU: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v1.3766 Chirag Patel Added reviews for gene HHIP from panel Pituitary hormone deficiency
Pituitary hormone deficiency v0.145 HHIP Chirag Patel reviewed gene: HHIP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Pituitary hormone deficiency v0.145 GPR161 Chirag Patel Mode of inheritance for gene: GPR161 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Pituitary hormone deficiency v0.144 Chirag Patel Added reviews for gene GPR161 from panel Growth failure
Pituitary hormone deficiency v0.143 GHRH Chirag Patel reviewed gene: GHRH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Pituitary hormone deficiency v0.143 FOXH1 Chirag Patel reviewed gene: FOXH1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pituitary hormone deficiency v0.143 BMP2 Chirag Patel commented on gene: BMP2
Pituitary hormone deficiency v0.143 Chirag Patel Copied gene HFE2 from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.143 HFE2 Chirag Patel gene: HFE2 was added
gene: HFE2 was added to Pituitary hormone deficiency. Sources: Victorian Clinical Genetics Services,Expert Review Green,Expert Review Green,Victorian Clinical Genetics Services
new gene name tags were added to gene: HFE2.
Mode of inheritance for gene: HFE2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HFE2 were set to Hemochromatosis, type 2A, MIM# 602390
Pituitary hormone deficiency v0.142 Chirag Patel Copied gene HFE from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.142 HFE Chirag Patel gene: HFE was added
gene: HFE was added to Pituitary hormone deficiency. Sources: Victorian Clinical Genetics Services,Expert Review Green,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HFE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HFE were set to Haemochromatosis, MIM# 235200
Pituitary hormone deficiency v0.141 Chirag Patel Copied gene HAMP from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.141 HAMP Chirag Patel gene: HAMP was added
gene: HAMP was added to Pituitary hormone deficiency. Sources: Victorian Clinical Genetics Services,Expert Review Green,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HAMP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HAMP were set to 12469120; 34828384; 15198949
Phenotypes for gene: HAMP were set to Haemochromatosis, type 2B, MIM# 613313
Pituitary hormone deficiency v0.140 Chirag Patel Copied gene GNRH1 from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.140 GNRH1 Chirag Patel gene: GNRH1 was added
gene: GNRH1 was added to Pituitary hormone deficiency. Sources: Victorian Clinical Genetics Services,Expert Review Green,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GNRH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNRH1 were set to 19535795; 19567835; 32134721; 31200363; 26595427
Phenotypes for gene: GNRH1 were set to Hypogonadotropic hypogonadism 12 with or without anosmia, MIM# 614841
Pituitary hormone deficiency v0.139 Chirag Patel Copied gene FSHB from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.139 FSHB Chirag Patel gene: FSHB was added
gene: FSHB was added to Pituitary hormone deficiency. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: FSHB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FSHB were set to 8220432; 9280841; 9624193; 9806482; 9271483; 16630814
Phenotypes for gene: FSHB were set to Hypogonadotropic hypogonadism 24 without anosmia, MIM#229070
Pituitary hormone deficiency v0.138 Chirag Patel Copied gene FLRT3 from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.138 FLRT3 Chirag Patel gene: FLRT3 was added
gene: FLRT3 was added to Pituitary hormone deficiency. Sources: Victorian Clinical Genetics Services,Expert Review Red,Expert Review Red,Victorian Clinical Genetics Services
Mode of inheritance for gene: FLRT3 was set to Unknown
Publications for gene: FLRT3 were set to 23643382; 31200363
Phenotypes for gene: FLRT3 were set to Hypogonadotropic hypogonadism 21 with anosmia (MIM# 615271)
Pituitary hormone deficiency v0.137 Chirag Patel Copied gene FGF17 from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.137 FGF17 Chirag Patel gene: FGF17 was added
gene: FGF17 was added to Pituitary hormone deficiency. Sources: Victorian Clinical Genetics Services,Expert Review Green,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FGF17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FGF17 were set to 23643382; 31748124
Pituitary hormone deficiency v0.136 Chirag Patel Copied gene FEZF1 from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.136 FEZF1 Chirag Patel gene: FEZF1 was added
gene: FEZF1 was added to Pituitary hormone deficiency. Sources: Victorian Clinical Genetics Services,Expert Review Amber
Mode of inheritance for gene: FEZF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FEZF1 were set to 25192046; 32400067
Phenotypes for gene: FEZF1 were set to Hypogonadotropic hypogonadism 22, with or without anosmia 616030
Pituitary hormone deficiency v0.135 Chirag Patel Copied gene DUSP6 from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.135 DUSP6 Chirag Patel gene: DUSP6 was added
gene: DUSP6 was added to Pituitary hormone deficiency. Sources: Victorian Clinical Genetics Services,Expert Review Red
Mode of inheritance for gene: DUSP6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DUSP6 were set to 23643382; 32389901
Phenotypes for gene: DUSP6 were set to Hypogonadotropic hypogonadism 19 with or without anosmia - MIM#615269
Pituitary hormone deficiency v0.134 Chirag Patel Copied gene DCAF17 from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.134 DCAF17 Chirag Patel gene: DCAF17 was added
gene: DCAF17 was added to Pituitary hormone deficiency. Sources: Expert Review,Expert Review Green,Expert Review Green,Expert Review
Mode of inheritance for gene: DCAF17 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCAF17 were set to 19026396; 20507343; 35002959; 34877714; 34732557; 34590781
Phenotypes for gene: DCAF17 were set to Woodhouse-Sakati syndrome, MIM# 241080
Pituitary hormone deficiency v0.133 Chirag Patel Copied gene CUL4B from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.133 CUL4B Chirag Patel gene: CUL4B was added
gene: CUL4B was added to Pituitary hormone deficiency. Sources: Victorian Clinical Genetics Services,Expert list,Expert Review Green,Expert Review Green,Expert Review Green,Expert Review Green,Expert list,Victorian Clinical Genetics Services
Mode of inheritance for gene: CUL4B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: CUL4B were set to PMID: 25385192
Phenotypes for gene: CUL4B were set to Mental retardation, X-linked, syndromic 15 (Cabezas type) 300354
Pituitary hormone deficiency v0.132 Chirag Patel Copied gene CLPP from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.132 CLPP Chirag Patel gene: CLPP was added
gene: CLPP was added to Pituitary hormone deficiency. Sources: Expert Review,Expert Review Amber,Expert Review Amber,Expert Review
Mode of inheritance for gene: CLPP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLPP were set to 23541340; 25956234; 26970254; 27087618; 27650058; 27650058; 27899912
Phenotypes for gene: CLPP were set to Perrault syndrome 3, MIM# 614129
Pituitary hormone deficiency v0.131 Chirag Patel Copied gene CCDC141 from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.131 CCDC141 Chirag Patel gene: CCDC141 was added
gene: CCDC141 was added to Pituitary hormone deficiency. Sources: Expert Review,Expert Review Amber,Expert Review Amber,Expert Review
Mode of inheritance for gene: CCDC141 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CCDC141 were set to 251920460; 28324054; 32520725; 27014940
Phenotypes for gene: CCDC141 were set to congenital hypogonadotropic hypogonadism, MONDO:0015770, CCDC141-related
Pituitary hormone deficiency v0.130 Chirag Patel Copied gene AXL from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.130 AXL Chirag Patel gene: AXL was added
gene: AXL was added to Pituitary hormone deficiency. Sources: Expert Review,Expert Review Red,Expert Review Red,Expert Review
Mode of inheritance for gene: AXL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AXL were set to 24476074
Phenotypes for gene: AXL were set to Hypogonadotropic hypogonadism, MONDO:0018555, AXL-related
Pituitary hormone deficiency v0.129 Chirag Patel Copied gene ARHGAP35 from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.129 ARHGAP35 Chirag Patel gene: ARHGAP35 was added
gene: ARHGAP35 was added to Pituitary hormone deficiency. Sources: Literature,Expert Review Green,Expert Review Green,Literature
Mode of inheritance for gene: ARHGAP35 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARHGAP35 were set to PMID: 36178483
Phenotypes for gene: ARHGAP35 were set to Hypogonadotropic hypogonadism, MONDO:0015770, ARHGAP35-related
Pituitary hormone deficiency v0.128 Chirag Patel Copied gene ANOS1 from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.128 ANOS1 Chirag Patel gene: ANOS1 was added
gene: ANOS1 was added to Pituitary hormone deficiency. Sources: Victorian Clinical Genetics Services,Expert Review Green,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ANOS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ANOS1 were set to 1594017; 8504298; 8989261
Phenotypes for gene: ANOS1 were set to Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), MIM# 308700
Pituitary hormone deficiency v0.127 Chirag Patel Copied gene TFR2 from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.127 TFR2 Chirag Patel gene: TFR2 was added
gene: TFR2 was added to Pituitary hormone deficiency. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TFR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TFR2 were set to 24847265; 29743178
Phenotypes for gene: TFR2 were set to Haemochromatosis, type 3 (MIM#604250)
Pituitary hormone deficiency v0.126 Chirag Patel Copied gene TCF12 from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.126 TCF12 Chirag Patel gene: TCF12 was added
gene: TCF12 was added to Pituitary hormone deficiency. Sources: Literature,Expert Review Green,Expert Review Green,Literature
Mode of inheritance for gene: TCF12 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TCF12 were set to 32620954
Phenotypes for gene: TCF12 were set to Hypogonadotropic hypogonadism 26 with or without anosmia, MIM# 619718; Kallmann syndrome
Pituitary hormone deficiency v0.125 Chirag Patel Copied gene TACR3 from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.125 TACR3 Chirag Patel gene: TACR3 was added
gene: TACR3 was added to Pituitary hormone deficiency. Sources: Expert list,Expert Review Green,Expert Review Green,Expert list
Mode of inheritance for gene: TACR3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TACR3 were set to 20332248; 19079066
Phenotypes for gene: TACR3 were set to Hypogonadotropic hypogonadism 11 with or without anosmia, MIM# 614840
Pituitary hormone deficiency v0.124 Chirag Patel Copied gene TAC3 from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.124 TAC3 Chirag Patel gene: TAC3 was added
gene: TAC3 was added to Pituitary hormone deficiency. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TAC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TAC3 were set to 19079066; 20332248; 23329188; 22031817
Phenotypes for gene: TAC3 were set to Hypogonadotropic hypogonadism 10 with or without anosmia (MIM#614839)
Pituitary hormone deficiency v0.123 Chirag Patel Copied gene SPRY4 from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.123 SPRY4 Chirag Patel gene: SPRY4 was added
gene: SPRY4 was added to Pituitary hormone deficiency. Sources: Expert list,Expert Review Amber,Expert Review Amber,Expert list
disputed tags were added to gene: SPRY4.
Mode of inheritance for gene: SPRY4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPRY4 were set to 23643382
Phenotypes for gene: SPRY4 were set to Hypogonadotropic hypogonadism 17 with or without anosmia, MIM# 615266
Pituitary hormone deficiency v0.122 Chirag Patel Copied gene SOX10 from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.122 SOX10 Chirag Patel gene: SOX10 was added
gene: SOX10 was added to Pituitary hormone deficiency. Sources: Expert Review,Expert Review Green,Expert Review
Mode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SOX10 were set to 23643381; 15004559
Phenotypes for gene: SOX10 were set to Kallman syndrome; PCWH syndrome (MIM#609136); Waardenburg syndrome, type 2E, with or without neurologic involvement (MIM#611584); Waardenburg syndrome, type 4C (MIM#613266)
Mode of pathogenicity for gene: SOX10 was set to Other
Pituitary hormone deficiency v0.121 Chirag Patel Copied gene SLC40A1 from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.121 SLC40A1 Chirag Patel gene: SLC40A1 was added
gene: SLC40A1 was added to Pituitary hormone deficiency. Sources: Victorian Clinical Genetics Services,Expert Review Green,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC40A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC40A1 were set to 11431687; 11518736; 15956209; 16351644
Phenotypes for gene: SLC40A1 were set to Haemochromatosis, type 4, MIM# 606069
Pituitary hormone deficiency v0.120 Chirag Patel Copied gene SLC29A3 from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.120 SLC29A3 Chirag Patel gene: SLC29A3 was added
gene: SLC29A3 was added to Pituitary hormone deficiency. Sources: Victorian Clinical Genetics Services,Expert Review Green,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC29A3 were set to 18940313; 19336477; 22238637
Phenotypes for gene: SLC29A3 were set to Histiocytosis-lymphadenopathy plus syndrome, MIM# 602782
Pituitary hormone deficiency v0.119 Chirag Patel Copied gene SEMA3F from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.119 SEMA3F Chirag Patel gene: SEMA3F was added
gene: SEMA3F was added to Pituitary hormone deficiency. Sources: Literature,Expert Review Green,Literature
Mode of inheritance for gene: SEMA3F was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SEMA3F were set to PMID: 33495532
Phenotypes for gene: SEMA3F were set to Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.118 Chirag Patel Copied gene SEMA3E from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.118 SEMA3E Chirag Patel gene: SEMA3E was added
gene: SEMA3E was added to Pituitary hormone deficiency. Sources: Expert Review,Expert Review Red,Expert Review
Mode of inheritance for gene: SEMA3E was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEMA3E were set to 25985275
Phenotypes for gene: SEMA3E were set to ?CHARGE syndrome (MIM#214800)
Pituitary hormone deficiency v0.117 Chirag Patel Copied gene SEMA3A from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.117 SEMA3A Chirag Patel gene: SEMA3A was added
gene: SEMA3A was added to Pituitary hormone deficiency. Sources: Expert Review,Expert Review Green,Expert Review Green,Expert Review
Mode of inheritance for gene: SEMA3A was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: SEMA3A were set to 28075028; 33369061; 20301509; 21059704; 24124006; 22927827
Phenotypes for gene: SEMA3A were set to Hypogonadotropic hypogonadism 16 with or without anosmia - MIM#614897
Pituitary hormone deficiency v0.116 Chirag Patel Copied gene PROK2 from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.116 PROK2 Chirag Patel gene: PROK2 was added
gene: PROK2 was added to Pituitary hormone deficiency. Sources: Victorian Clinical Genetics Services,Expert Review Green,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PROK2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PROK2 were set to 18559922; 17054399; 17959774; 18285834
Phenotypes for gene: PROK2 were set to Hypogonadotropic hypogonadism 4 with or without anosmia (MIM#610628)
Pituitary hormone deficiency v0.115 Chirag Patel Copied gene PRDM13 from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.115 PRDM13 Chirag Patel gene: PRDM13 was added
gene: PRDM13 was added to Pituitary hormone deficiency. Sources: Literature,Expert Review Amber,Expert Review Amber,Literature
founder tags were added to gene: PRDM13.
Mode of inheritance for gene: PRDM13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRDM13 were set to 34730112
Phenotypes for gene: PRDM13 were set to Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 619761
Pituitary hormone deficiency v0.114 Chirag Patel Copied gene PLXNA3 from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.114 PLXNA3 Chirag Patel gene: PLXNA3 was added
gene: PLXNA3 was added to Pituitary hormone deficiency. Sources: Literature,Expert Review Green,Literature
Mode of inheritance for gene: PLXNA3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PLXNA3 were set to PMID: 33495532
Phenotypes for gene: PLXNA3 were set to Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.113 Chirag Patel Copied gene NSMF from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.113 NSMF Chirag Patel gene: NSMF was added
gene: NSMF was added to Pituitary hormone deficiency. Sources: Expert list,Expert Review Red,Expert Review Red,Expert list
Mode of inheritance for gene: NSMF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NSMF were set to 15362570; 17235395; 21700882
Phenotypes for gene: NSMF were set to Hypogonadotropic hypogonadism 9 with or without anosmia, MIM# 614838
Pituitary hormone deficiency v0.112 Chirag Patel Copied gene NR0B1 from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.112 NR0B1 Chirag Patel gene: NR0B1 was added
gene: NR0B1 was added to Pituitary hormone deficiency. Sources: Victorian Clinical Genetics Services,Expert Review Green,Expert Review Green,Victorian Clinical Genetics Services
SV/CNV tags were added to gene: NR0B1.
Mode of inheritance for gene: NR0B1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: NR0B1 were set to 19508677; 26030781
Phenotypes for gene: NR0B1 were set to Adrenal hypoplasia, congenital (MIM# 300200); 46XY sex reversal 2, dosage-sensitive, MIM# 300018
Pituitary hormone deficiency v0.111 Chirag Patel Copied gene NHLH2 from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.111 NHLH2 Chirag Patel gene: NHLH2 was added
gene: NHLH2 was added to Pituitary hormone deficiency. Sources: Expert Review,Expert Review Red,Expert Review Red,Expert Review
Mode of inheritance for gene: NHLH2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NHLH2 were set to 35066646
Phenotypes for gene: NHLH2 were set to Hypogonadotropic hypogonadism 27 without anosmia , MIM# 619755
Pituitary hormone deficiency v0.110 Chirag Patel Copied gene NDNF from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.110 NDNF Chirag Patel gene: NDNF was added
gene: NDNF was added to Pituitary hormone deficiency. Sources: Literature,Expert Review Amber,Expert Review Amber,Literature
Mode of inheritance for gene: NDNF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NDNF were set to 31883645; 40788466
Phenotypes for gene: NDNF were set to Hypogonadotropic hypogonadism 25 with anosmia MIM#618841
Pituitary hormone deficiency v0.109 Chirag Patel Copied gene LHB from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.109 LHB Chirag Patel gene: LHB was added
gene: LHB was added to Pituitary hormone deficiency. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: LHB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LHB were set to 17761593; 28092701; 29476300; 22723313; 15602022
Phenotypes for gene: LHB were set to Hypogonadotropic hypogonadism 23 with or without anosmia (MIM#228300)
Pituitary hormone deficiency v0.108 Chirag Patel Copied gene KLB from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.108 KLB Chirag Patel gene: KLB was added
gene: KLB was added to Pituitary hormone deficiency. Sources: Literature,Expert Review Green,Expert Review Green,Literature
Mode of inheritance for gene: KLB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KLB were set to 28754744
Phenotypes for gene: KLB were set to Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.107 Chirag Patel Copied gene KISS1R from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.107 KISS1R Chirag Patel gene: KISS1R was added
gene: KISS1R was added to Pituitary hormone deficiency. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: KISS1R was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KISS1R were set to 17164310; 31073722; 14573733
Phenotypes for gene: KISS1R were set to Hypogonadotropic hypogonadism 8 with or without anosmia (MIM#614837)
Pituitary hormone deficiency v0.106 Chirag Patel Copied gene KISS1 from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.106 KISS1 Chirag Patel gene: KISS1 was added
gene: KISS1 was added to Pituitary hormone deficiency. Sources: Expert list,Expert Review Amber,Expert Review Amber,Expert list
Mode of inheritance for gene: KISS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KISS1 were set to 22335740; 25783047; 22766261; 17563351
Phenotypes for gene: KISS1 were set to Hypogonadotropic hypogonadism 13 with or without anosmia, MIM# 614842
Pituitary hormone deficiency v0.105 Chirag Patel Copied gene IL17RD from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.105 IL17RD Chirag Patel gene: IL17RD was added
gene: IL17RD was added to Pituitary hormone deficiency. Sources: Victorian Clinical Genetics Services,Expert Review Red,Victorian Clinical Genetics Services
disputed tags were added to gene: IL17RD.
Mode of inheritance for gene: IL17RD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: IL17RD were set to 23643382; 32389901
Phenotypes for gene: IL17RD were set to Hypogonadotropic hypogonadism 18 with or without anosmia, MIM# 615267
Pituitary hormone deficiency v0.104 Chirag Patel Copied gene HS6ST1 from panel Hypogonadotropic hypogonadism
Pituitary hormone deficiency v0.104 HS6ST1 Chirag Patel gene: HS6ST1 was added
gene: HS6ST1 was added to Pituitary hormone deficiency. Sources: Victorian Clinical Genetics Services,Expert Review Red,Expert Review Red,Victorian Clinical Genetics Services
Mode of inheritance for gene: HS6ST1 was set to Other
Publications for gene: HS6ST1 were set to 21700882
Phenotypes for gene: HS6ST1 were set to {Hypogonadotropic hypogonadism 15 with or without anosmia} 614880
Hypogonadotropic hypogonadism v0.74 Chirag Patel Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Rare Disease
Hypogonadotropic hypogonadism v0.73 Chirag Patel HPO terms changed from to Hypogonadotropic hypogonadism HP:0000044
Panel status changed from internal to public
Panel types changed to Rare Disease
Hypogonadotropic hypogonadism v0.72 Chirag Patel Copied gene FEZF1 from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.72 FEZF1 Chirag Patel gene: FEZF1 was added
gene: FEZF1 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Amber,Victorian Clinical Genetics Services
Mode of inheritance for gene: FEZF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FEZF1 were set to 25192046; 32400067
Phenotypes for gene: FEZF1 were set to Hypogonadotropic hypogonadism 22, with or without anosmia 616030
Hypogonadotropic hypogonadism v0.71 Chirag Patel Copied gene IL17RD from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.71 IL17RD Chirag Patel gene: IL17RD was added
gene: IL17RD was added to Hypogonadotropic hypogonadism. Sources: Expert Review Red,Victorian Clinical Genetics Services
disputed tags were added to gene: IL17RD.
Mode of inheritance for gene: IL17RD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: IL17RD were set to 23643382; 32389901
Phenotypes for gene: IL17RD were set to Hypogonadotropic hypogonadism 18 with or without anosmia, MIM# 615267
Hypogonadotropic hypogonadism v0.70 Chirag Patel Copied gene NDNF from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.70 NDNF Chirag Patel gene: NDNF was added
gene: NDNF was added to Hypogonadotropic hypogonadism. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: NDNF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NDNF were set to 31883645; 40788466
Phenotypes for gene: NDNF were set to Hypogonadotropic hypogonadism 25 with anosmia MIM#618841
Hypogonadotropic hypogonadism v0.69 Chirag Patel Copied gene KISS1 from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.69 KISS1 Chirag Patel gene: KISS1 was added
gene: KISS1 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: KISS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KISS1 were set to 22335740; 25783047; 22766261; 17563351
Phenotypes for gene: KISS1 were set to Hypogonadotropic hypogonadism 13 with or without anosmia, MIM# 614842
Hypogonadotropic hypogonadism v0.68 Chirag Patel Copied gene PRDM13 from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.68 PRDM13 Chirag Patel gene: PRDM13 was added
gene: PRDM13 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Amber,Literature
founder tags were added to gene: PRDM13.
Mode of inheritance for gene: PRDM13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRDM13 were set to 34730112
Phenotypes for gene: PRDM13 were set to Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 619761
Hypogonadotropic hypogonadism v0.67 Chirag Patel Copied gene RAX from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v0.67 RAX Chirag Patel gene: RAX was added
gene: RAX was added to Hypogonadotropic hypogonadism. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: RAX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAX were set to 30811539, 40321348
Phenotypes for gene: RAX were set to Microphthalmia, syndromic 16, MIM#611038
Hypogonadotropic hypogonadism v0.66 Chirag Patel Copied gene RBM28 from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v0.66 RBM28 Chirag Patel gene: RBM28 was added
gene: RBM28 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: RBM28 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RBM28 were set to 20231366; 18439547; 33941690
Phenotypes for gene: RBM28 were set to ANE syndrome; Alopecia, neurologic defects, and endocrinopathy syndrome (612079)
Hypogonadotropic hypogonadism v0.65 Chirag Patel Copied gene SPRY4 from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.65 SPRY4 Chirag Patel gene: SPRY4 was added
gene: SPRY4 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Amber,Expert list
disputed tags were added to gene: SPRY4.
Mode of inheritance for gene: SPRY4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPRY4 were set to 23643382
Phenotypes for gene: SPRY4 were set to Hypogonadotropic hypogonadism 17 with or without anosmia, MIM# 615266
Hypogonadotropic hypogonadism v0.64 Chirag Patel Copied gene ARNT2 from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v0.64 ARNT2 Chirag Patel gene: ARNT2 was added
gene: ARNT2 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Amber,Expert Review Amber,Literature,Genomics England PanelApp,Genetic Health Queensland
Mode of inheritance for gene: ARNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARNT2 were set to 24022475, 11381139
Phenotypes for gene: ARNT2 were set to Webb-Dattani syndrome 615926
Hypogonadotropic hypogonadism v0.63 Chirag Patel Copied gene CCDC141 from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.63 CCDC141 Chirag Patel gene: CCDC141 was added
gene: CCDC141 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Amber,Expert Review
Mode of inheritance for gene: CCDC141 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CCDC141 were set to 251920460; 28324054; 32520725; 27014940
Phenotypes for gene: CCDC141 were set to congenital hypogonadotropic hypogonadism, MONDO:0015770, CCDC141-related
Hypogonadotropic hypogonadism v0.62 Chirag Patel Copied gene CLPP from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.62 CLPP Chirag Patel gene: CLPP was added
gene: CLPP was added to Hypogonadotropic hypogonadism. Sources: Expert Review Amber,Expert Review
Mode of inheritance for gene: CLPP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLPP were set to 23541340; 25956234; 26970254; 27087618; 27650058; 27650058; 27899912
Phenotypes for gene: CLPP were set to Perrault syndrome 3, MIM# 614129
Hypogonadotropic hypogonadism v0.61 Chirag Patel Copied gene ESRP2 from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v0.61 ESRP2 Chirag Patel gene: ESRP2 was added
gene: ESRP2 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: ESRP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ESRP2 were set to 29805042
Phenotypes for gene: ESRP2 were set to Cleft palate, MONDO:0016064; Hypopituitarism MONDO:0005152
Hypogonadotropic hypogonadism v0.60 Chirag Patel Copied gene SEMA3E from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.60 SEMA3E Chirag Patel gene: SEMA3E was added
gene: SEMA3E was added to Hypogonadotropic hypogonadism. Sources: Expert Review Red,Expert Review
Mode of inheritance for gene: SEMA3E was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEMA3E were set to 25985275
Phenotypes for gene: SEMA3E were set to ?CHARGE syndrome (MIM#214800)
Hypogonadotropic hypogonadism v0.59 Chirag Patel Copied gene NSMF from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.59 NSMF Chirag Patel gene: NSMF was added
gene: NSMF was added to Hypogonadotropic hypogonadism. Sources: Expert Review Red,Expert list
Mode of inheritance for gene: NSMF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NSMF were set to 15362570; 17235395; 21700882
Phenotypes for gene: NSMF were set to Hypogonadotropic hypogonadism 9 with or without anosmia, MIM# 614838
Hypogonadotropic hypogonadism v0.58 Chirag Patel Copied gene NHLH2 from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.58 NHLH2 Chirag Patel gene: NHLH2 was added
gene: NHLH2 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Red,Expert Review
Mode of inheritance for gene: NHLH2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NHLH2 were set to 35066646
Phenotypes for gene: NHLH2 were set to Hypogonadotropic hypogonadism 27 without anosmia , MIM# 619755
Hypogonadotropic hypogonadism v0.57 Chirag Patel Copied gene HS6ST1 from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.57 HS6ST1 Chirag Patel gene: HS6ST1 was added
gene: HS6ST1 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Red,Victorian Clinical Genetics Services
Mode of inheritance for gene: HS6ST1 was set to Other
Publications for gene: HS6ST1 were set to 21700882
Phenotypes for gene: HS6ST1 were set to {Hypogonadotropic hypogonadism 15 with or without anosmia} 614880
Hypogonadotropic hypogonadism v0.56 Chirag Patel Copied gene FLRT3 from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.56 FLRT3 Chirag Patel gene: FLRT3 was added
gene: FLRT3 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Red,Victorian Clinical Genetics Services
Mode of inheritance for gene: FLRT3 was set to Unknown
Publications for gene: FLRT3 were set to 23643382; 31200363
Phenotypes for gene: FLRT3 were set to Hypogonadotropic hypogonadism 21 with anosmia (MIM# 615271)
Hypogonadotropic hypogonadism v0.55 Chirag Patel Copied gene DUSP6 from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.55 DUSP6 Chirag Patel gene: DUSP6 was added
gene: DUSP6 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Red,Victorian Clinical Genetics Services
Mode of inheritance for gene: DUSP6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DUSP6 were set to 23643382; 32389901
Phenotypes for gene: DUSP6 were set to Hypogonadotropic hypogonadism 19 with or without anosmia - MIM#615269
Hypogonadotropic hypogonadism v0.54 Chirag Patel Copied gene AXL from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.54 AXL Chirag Patel gene: AXL was added
gene: AXL was added to Hypogonadotropic hypogonadism. Sources: Expert Review Red,Expert Review
Mode of inheritance for gene: AXL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AXL were set to 24476074
Phenotypes for gene: AXL were set to Hypogonadotropic hypogonadism, MONDO:0018555, AXL-related
Hypogonadotropic hypogonadism v0.53 TFR2 Chirag Patel commented on gene: TFR2
Hypogonadotropic hypogonadism v0.53 Chirag Patel Copied gene TFR2 from panel Mendeliome
Hypogonadotropic hypogonadism v0.53 TFR2 Chirag Patel gene: TFR2 was added
gene: TFR2 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TFR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TFR2 were set to 24847265; 29743178
Phenotypes for gene: TFR2 were set to Haemochromatosis, type 3 (MIM#604250)
Hypogonadotropic hypogonadism v0.52 Chirag Patel Copied gene WDR11 from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v0.52 WDR11 Chirag Patel gene: WDR11 was added
gene: WDR11 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Expert List,Genomics England PanelApp
Mode of inheritance for gene: WDR11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: WDR11 were set to Hypogonadotropic hypogonadism 14 with or without anosmia (614858)
Hypogonadotropic hypogonadism v0.51 Chirag Patel Copied gene ZRSR2 from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v0.51 ZRSR2 Chirag Patel gene: ZRSR2 was added
gene: ZRSR2 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Literature
Mode of inheritance for gene: ZRSR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ZRSR2 were set to 38158857
Phenotypes for gene: ZRSR2 were set to Orofaciodigital syndrome XXI, MIM# 301132
Hypogonadotropic hypogonadism v0.50 Chirag Patel Copied gene TAC3 from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.50 TAC3 Chirag Patel gene: TAC3 was added
gene: TAC3 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TAC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TAC3 were set to 19079066; 20332248; 23329188; 22031817
Phenotypes for gene: TAC3 were set to Hypogonadotropic hypogonadism 10 with or without anosmia (MIM#614839)
Hypogonadotropic hypogonadism v0.49 Chirag Patel Copied gene TACR3 from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.49 TACR3 Chirag Patel gene: TACR3 was added
gene: TACR3 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: TACR3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TACR3 were set to 20332248; 19079066
Phenotypes for gene: TACR3 were set to Hypogonadotropic hypogonadism 11 with or without anosmia, MIM# 614840
Hypogonadotropic hypogonadism v0.48 Chirag Patel Copied gene TBC1D32 from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v0.48 TBC1D32 Chirag Patel gene: TBC1D32 was added
gene: TBC1D32 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Literature
Mode of inheritance for gene: TBC1D32 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBC1D32 were set to 32573025; 32060556; 24285566; 31130284; 36826837; 40319332
Phenotypes for gene: TBC1D32 were set to Syndromic hypopituitarism
Hypogonadotropic hypogonadism v0.47 Chirag Patel Copied gene TCF12 from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.47 TCF12 Chirag Patel gene: TCF12 was added
gene: TCF12 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Literature
Mode of inheritance for gene: TCF12 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TCF12 were set to 32620954
Phenotypes for gene: TCF12 were set to Hypogonadotropic hypogonadism 26 with or without anosmia, MIM# 619718; Kallmann syndrome
Hypogonadotropic hypogonadism v0.46 SLC40A1 Chirag Patel commented on gene: SLC40A1
Hypogonadotropic hypogonadism v0.46 Chirag Patel Copied gene SLC40A1 from panel Mendeliome
Hypogonadotropic hypogonadism v0.46 SLC40A1 Chirag Patel gene: SLC40A1 was added
gene: SLC40A1 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC40A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC40A1 were set to 11431687; 11518736; 15956209; 16351644
Phenotypes for gene: SLC40A1 were set to Haemochromatosis, type 4, MIM# 606069
Hypogonadotropic hypogonadism v0.45 Chirag Patel Copied gene SOX10 from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.45 SOX10 Chirag Patel gene: SOX10 was added
gene: SOX10 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Expert Review
Mode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SOX10 were set to 23643381; 15004559
Phenotypes for gene: SOX10 were set to Kallman syndrome; PCWH syndrome (MIM#609136); Waardenburg syndrome, type 2E, with or without neurologic involvement (MIM#611584); Waardenburg syndrome, type 4C (MIM#613266)
Mode of pathogenicity for gene: SOX10 was set to Other
Hypogonadotropic hypogonadism v0.44 Chirag Patel Copied gene SOX2 from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.44 SOX2 Chirag Patel gene: SOX2 was added
gene: SOX2 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Literature
Mode of inheritance for gene: SOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SOX2 were set to PMID: 20301477
Phenotypes for gene: SOX2 were set to Anophthalmia/microphthalmia-esophageal atresia syndrome MONDO:0008799; Microphthalmia, syndromic 3, MIM# 206900; Optic nerve hypoplasia and abnormalities of the central nervous system, MIM# 206900
Hypogonadotropic hypogonadism v0.43 Chirag Patel Copied gene SOX3 from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v0.43 SOX3 Chirag Patel gene: SOX3 was added
gene: SOX3 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Genomics England PanelApp
SV/CNV tags were added to gene: SOX3.
Mode of inheritance for gene: SOX3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SOX3 were set to 24346842; 15800844; 21289259; 24737742
Phenotypes for gene: SOX3 were set to Panhypopituitarism, X-linked (312000); Mental retardation, X-linked, with isolated growth hormone deficiency (300123)
Hypogonadotropic hypogonadism v0.42 SLC29A3 Chirag Patel commented on gene: SLC29A3
Hypogonadotropic hypogonadism v0.42 Chirag Patel Copied gene ROBO1 from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v0.42 ROBO1 Chirag Patel gene: ROBO1 was added
gene: ROBO1 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Literature
Mode of inheritance for gene: ROBO1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: ROBO1 were set to PMID: 30530901; 30692597; 33270637; 28402530
Phenotypes for gene: ROBO1 were set to Pituitary hormone deficiency, combined or isolated, 8, MIM# 620303
Hypogonadotropic hypogonadism v0.41 Chirag Patel Copied gene SEMA3A from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.41 SEMA3A Chirag Patel gene: SEMA3A was added
gene: SEMA3A was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Expert Review
Mode of inheritance for gene: SEMA3A was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: SEMA3A were set to 28075028; 33369061; 20301509; 21059704; 24124006; 22927827
Phenotypes for gene: SEMA3A were set to Hypogonadotropic hypogonadism 16 with or without anosmia - MIM#614897
Hypogonadotropic hypogonadism v0.40 Chirag Patel Copied gene SEMA3F from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.40 SEMA3F Chirag Patel gene: SEMA3F was added
gene: SEMA3F was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Literature
Mode of inheritance for gene: SEMA3F was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SEMA3F were set to PMID: 33495532
Phenotypes for gene: SEMA3F were set to Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism v0.39 Chirag Patel Copied gene SLC29A3 from panel Mendeliome
Hypogonadotropic hypogonadism v0.39 SLC29A3 Chirag Patel gene: SLC29A3 was added
gene: SLC29A3 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC29A3 were set to 18940313; 19336477; 22238637
Phenotypes for gene: SLC29A3 were set to Histiocytosis-lymphadenopathy plus syndrome, MIM# 602782
Hypogonadotropic hypogonadism v0.38 Chirag Patel Copied gene PROP1 from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v0.38 PROP1 Chirag Patel gene: PROP1 was added
gene: PROP1 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PROP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PROP1 were set to 20301521, 31090814
Phenotypes for gene: PROP1 were set to Pituitary hormone deficiency, combined, 2 MIM# 262600
Hypogonadotropic hypogonadism v0.37 Chirag Patel Copied gene PROKR2 from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v0.37 PROKR2 Chirag Patel gene: PROKR2 was added
gene: PROKR2 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PROKR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PROKR2 were set to 22319038; 25678757; 25759380; 18826963; 29161432
Phenotypes for gene: PROKR2 were set to Hypogonadotropic hypogonadism 3 with or without anosmia (244200)
Hypogonadotropic hypogonadism v0.36 Chirag Patel Copied gene POLR3B from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v0.36 POLR3B Chirag Patel gene: POLR3B was added
gene: POLR3B was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Literature,Literature
Mode of inheritance for gene: POLR3B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLR3B were set to 27512013; 23355746; 22036171; 22036172; 25339210; 33005949; 22855961
Phenotypes for gene: POLR3B were set to Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism; OMIM #614381
Hypogonadotropic hypogonadism v0.35 Chirag Patel Copied gene POLR3A from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v0.35 POLR3A Chirag Patel gene: POLR3A was added
gene: POLR3A was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Genomics England PanelApp,Victorian Clinical Genetics Services
Mode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLR3A were set to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (607694)
Hypogonadotropic hypogonadism v0.34 Chirag Patel Copied gene PROK2 from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.34 PROK2 Chirag Patel gene: PROK2 was added
gene: PROK2 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PROK2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PROK2 were set to 18559922; 17054399; 17959774; 18285834
Phenotypes for gene: PROK2 were set to Hypogonadotropic hypogonadism 4 with or without anosmia (MIM#610628)
Hypogonadotropic hypogonadism v0.33 Chirag Patel Copied gene PNPLA6 from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v0.33 PNPLA6 Chirag Patel gene: PNPLA6 was added
gene: PNPLA6 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Genomics England PanelApp,Expert Review Green,Expert list,Expert Review Green,Expert Review Green,Expert list,Victorian Clinical Genetics Services
Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNPLA6 were set to 25033069
Phenotypes for gene: PNPLA6 were set to Oliver-McFarlane syndrome (275400); Spastic paraplegia 39, autosomal recessive (612020); Boucher-Neuhauser syndrome (215470)
Hypogonadotropic hypogonadism v0.32 Chirag Patel Copied gene PLXNA3 from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.32 PLXNA3 Chirag Patel gene: PLXNA3 was added
gene: PLXNA3 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Literature
Mode of inheritance for gene: PLXNA3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PLXNA3 were set to PMID: 33495532
Phenotypes for gene: PLXNA3 were set to Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism v0.31 Chirag Patel Copied gene OTX2 from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v0.31 OTX2 Chirag Patel gene: OTX2 was added
gene: OTX2 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: OTX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: OTX2 were set to 19965921; 22715480; 18628516; 18728160
Phenotypes for gene: OTX2 were set to Pituitary hormone deficiency, combined, 6 (613986); Microphthalmia, syndromic 5 (610125)
Hypogonadotropic hypogonadism v0.30 NR0B1 Chirag Patel commented on gene: NR0B1
Hypogonadotropic hypogonadism v0.30 Chirag Patel Copied gene NR0B1 from panel Mendeliome
Hypogonadotropic hypogonadism v0.30 NR0B1 Chirag Patel gene: NR0B1 was added
gene: NR0B1 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Victorian Clinical Genetics Services
SV/CNV tags were added to gene: NR0B1.
Mode of inheritance for gene: NR0B1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: NR0B1 were set to 19508677; 26030781
Phenotypes for gene: NR0B1 were set to Adrenal hypoplasia, congenital (MIM# 300200); 46XY sex reversal 2, dosage-sensitive, MIM# 300018
Hypogonadotropic hypogonadism v0.29 Chirag Patel Copied gene NOS1 from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v0.29 NOS1 Chirag Patel gene: NOS1 was added
gene: NOS1 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Literature
Mode of inheritance for gene: NOS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NOS1 were set to 36197968
Phenotypes for gene: NOS1 were set to Hypogonadotropic hypogonadism, MONDO:0018555
Hypogonadotropic hypogonadism v0.28 Chirag Patel Copied gene LHX4 from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v0.28 LHX4 Chirag Patel gene: LHX4 was added
gene: LHX4 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Genomics England PanelApp
treatable tags were added to gene: LHX4.
Mode of inheritance for gene: LHX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LHX4 were set to 18073311; 18445675; 11567216
Phenotypes for gene: LHX4 were set to Pituitary hormone deficiency, combined, 4 (262700)
Hypogonadotropic hypogonadism v0.27 Chirag Patel Copied gene LHX3 from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v0.27 LHX3 Chirag Patel gene: LHX3 was added
gene: LHX3 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Genomics England PanelApp
treatable tags were added to gene: LHX3.
Mode of inheritance for gene: LHX3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LHX3 were set to Pituitary hormone deficiency, combined, 3 (221750)
Hypogonadotropic hypogonadism v0.26 Chirag Patel Copied gene LHB from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.26 LHB Chirag Patel gene: LHB was added
gene: LHB was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LHB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LHB were set to 17761593; 28092701; 29476300; 22723313; 15602022
Phenotypes for gene: LHB were set to Hypogonadotropic hypogonadism 23 with or without anosmia (MIM#228300)
Hypogonadotropic hypogonadism v0.25 Chirag Patel Copied gene KLB from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.25 KLB Chirag Patel gene: KLB was added
gene: KLB was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Literature
Mode of inheritance for gene: KLB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KLB were set to 28754744
Phenotypes for gene: KLB were set to Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism v0.24 Chirag Patel Copied gene KISS1R from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.24 KISS1R Chirag Patel gene: KISS1R was added
gene: KISS1R was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KISS1R was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KISS1R were set to 17164310; 31073722; 14573733
Phenotypes for gene: KISS1R were set to Hypogonadotropic hypogonadism 8 with or without anosmia (MIM#614837)
Hypogonadotropic hypogonadism v0.23 Chirag Patel Copied gene HID1 from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v0.23 HID1 Chirag Patel gene: HID1 was added
gene: HID1 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Literature
Mode of inheritance for gene: HID1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HID1 were set to 33999436
Phenotypes for gene: HID1 were set to Developmental and epileptic encephalopathy 105 with hypopituitarism MIM#619983
Hypogonadotropic hypogonadism v0.22 HAMP Chirag Patel commented on gene: HAMP
Hypogonadotropic hypogonadism v0.22 HFE Chirag Patel commented on gene: HFE
Hypogonadotropic hypogonadism v0.22 HFE2 Chirag Patel commented on gene: HFE2
Hypogonadotropic hypogonadism v0.22 Chirag Patel Copied gene HAMP from panel Mendeliome
Hypogonadotropic hypogonadism v0.22 HAMP Chirag Patel gene: HAMP was added
gene: HAMP was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HAMP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HAMP were set to 12469120; 34828384; 15198949
Phenotypes for gene: HAMP were set to Haemochromatosis, type 2B, MIM# 613313
Hypogonadotropic hypogonadism v0.21 Chirag Patel Copied gene HESX1 from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v0.21 HESX1 Chirag Patel gene: HESX1 was added
gene: HESX1 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HESX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: HESX1 were set to 14561704; 26781211; 11136712; 16940453
Phenotypes for gene: HESX1 were set to Growth hormone deficiency with pituitary anomalies (182230); Pituitary hormone deficiency, combined, 5 (182230)
Hypogonadotropic hypogonadism v0.20 Chirag Patel Copied gene HFE from panel Mendeliome
Hypogonadotropic hypogonadism v0.20 HFE Chirag Patel gene: HFE was added
gene: HFE was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HFE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HFE were set to Haemochromatosis, MIM# 235200
Hypogonadotropic hypogonadism v0.19 Chirag Patel Copied gene HFE2 from panel Mendeliome
Hypogonadotropic hypogonadism v0.19 HFE2 Chirag Patel gene: HFE2 was added
gene: HFE2 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Victorian Clinical Genetics Services
new gene name tags were added to gene: HFE2.
Mode of inheritance for gene: HFE2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HFE2 were set to Hemochromatosis, type 2A, MIM# 602390
Hypogonadotropic hypogonadism v0.18 Chirag Patel Copied gene GNRHR from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v0.18 GNRHR Chirag Patel gene: GNRHR was added
gene: GNRHR was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Genomics England PanelApp,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GNRHR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNRHR were set to Hypogonadotropic hypogonadism 7 without anosmia (146110)
Hypogonadotropic hypogonadism v0.17 Chirag Patel Copied gene GNRH1 from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.17 GNRH1 Chirag Patel gene: GNRH1 was added
gene: GNRH1 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GNRH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNRH1 were set to 19535795; 19567835; 32134721; 31200363; 26595427
Phenotypes for gene: GNRH1 were set to Hypogonadotropic hypogonadism 12 with or without anosmia, MIM# 614841
Hypogonadotropic hypogonadism v0.16 Chirag Patel Copied gene GNAI2 from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v0.16 GNAI2 Chirag Patel gene: GNAI2 was added
gene: GNAI2 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Literature
Mode of inheritance for gene: GNAI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GNAI2 were set to 31036916; 40926810; 39298586
Phenotypes for gene: GNAI2 were set to Syndromic disease MONDO:0002254, GNAI2-related
Hypogonadotropic hypogonadism v0.15 Chirag Patel Copied gene GLI3 from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v0.15 GLI3 Chirag Patel gene: GLI3 was added
gene: GLI3 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Genomics England PanelApp,Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GLI3 were set to 24736735; 15739154
Phenotypes for gene: GLI3 were set to Greig cephalopolysyndactyly syndrome (175700); Pallister-Hall syndrome (146510)
Hypogonadotropic hypogonadism v0.14 Chirag Patel Copied gene GLI2 from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v0.14 GLI2 Chirag Patel gene: GLI2 was added
gene: GLI2 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Expert Review Green,Genomics England PanelApp,Victorian Clinical Genetics Services
Mode of inheritance for gene: GLI2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GLI2 were set to 14581620; 25878059
Phenotypes for gene: GLI2 were set to Culler-Jones syndrome (615849); Holoprosencephaly 9 (610829)
Hypogonadotropic hypogonadism v0.13 Chirag Patel Copied gene FSHB from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.13 FSHB Chirag Patel gene: FSHB was added
gene: FSHB was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FSHB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FSHB were set to 8220432; 9280841; 9624193; 9806482; 9271483; 16630814
Phenotypes for gene: FSHB were set to Hypogonadotropic hypogonadism 24 without anosmia, MIM#229070
Hypogonadotropic hypogonadism v0.12 Chirag Patel Copied gene FOXA2 from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v0.12 FOXA2 Chirag Patel gene: FOXA2 was added
gene: FOXA2 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FOXA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FOXA2 were set to 28973288, 29329447, 30414530, 33729509, 31294511, 33999151
Phenotypes for gene: FOXA2 were set to Hypopituitarism, MONDO:0005152; Hyperinsulinism, MONDO:0002177
Hypogonadotropic hypogonadism v0.11 Chirag Patel Copied gene FGFR1 from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v0.11 FGFR1 Chirag Patel gene: FGFR1 was added
gene: FGFR1 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FGFR1 were set to 12627230, 18034870, 16606836, 15001591
Phenotypes for gene: FGFR1 were set to Hypogonadotropic hypogonadism 2 with or without anosmia 147950
Hypogonadotropic hypogonadism v0.10 Chirag Patel Copied gene FGF8 from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v0.10 FGF8 Chirag Patel gene: FGF8 was added
gene: FGF8 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Expert Review Green,Genomics England PanelApp,Victorian Clinical Genetics Services
Mode of inheritance for gene: FGF8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FGF8 were set to 22319038; 21832120; 20463092
Phenotypes for gene: FGF8 were set to Hypogonadotropic hypogonadism 6 with or without anosmia (612702)
Hypogonadotropic hypogonadism v0.9 Chirag Patel Copied gene FGF17 from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.9 FGF17 Chirag Patel gene: FGF17 was added
gene: FGF17 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FGF17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FGF17 were set to 23643382; 31748124
Hypogonadotropic hypogonadism v0.8 Chirag Patel Copied gene EIF2S3 from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v0.8 EIF2S3 Chirag Patel gene: EIF2S3 was added
gene: EIF2S3 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Genetic Health Queensland,Genetic Health Queensland
Mode of inheritance for gene: EIF2S3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: EIF2S3 were set to 23063529; 27333055; 28055140; 32799315
Phenotypes for gene: EIF2S3 were set to MEHMO syndrome, MIM# 300148
Hypogonadotropic hypogonadism v0.7 Chirag Patel Copied gene DCAF17 from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.7 DCAF17 Chirag Patel gene: DCAF17 was added
gene: DCAF17 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Expert Review
Mode of inheritance for gene: DCAF17 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCAF17 were set to 19026396; 20507343; 35002959; 34877714; 34732557; 34590781
Phenotypes for gene: DCAF17 were set to Woodhouse-Sakati syndrome, MIM# 241080
Hypogonadotropic hypogonadism v0.6 Chirag Patel Copied gene CUL4B from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.6 CUL4B Chirag Patel gene: CUL4B was added
gene: CUL4B was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Expert Review Green,Expert list,Victorian Clinical Genetics Services
Mode of inheritance for gene: CUL4B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: CUL4B were set to PMID: 25385192
Phenotypes for gene: CUL4B were set to Mental retardation, X-linked, syndromic 15 (Cabezas type) 300354
Hypogonadotropic hypogonadism v0.5 Chirag Patel Copied gene CHD7 from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v0.5 CHD7 Chirag Patel gene: CHD7 was added
gene: CHD7 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CHD7 were set to 29152903; 30733481; 18834967
Phenotypes for gene: CHD7 were set to Hypogonadotropic hypogonadism 5 with or without anosmia (612370); CHARGE syndrome (214800)
Hypogonadotropic hypogonadism v0.4 Chirag Patel Copied gene BMP4 from panel Pituitary hormone deficiency
Hypogonadotropic hypogonadism v0.4 BMP4 Chirag Patel gene: BMP4 was added
gene: BMP4 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BMP4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BMP4 were set to 31120642, 24289245, 18252212, 35633847
Phenotypes for gene: BMP4 were set to Microphthalmia, syndromic 6, MIM#607932
Hypogonadotropic hypogonadism v0.3 Chirag Patel Copied gene ARHGAP35 from panel Differences of Sex Development
Hypogonadotropic hypogonadism v0.3 ARHGAP35 Chirag Patel gene: ARHGAP35 was added
gene: ARHGAP35 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Literature
Mode of inheritance for gene: ARHGAP35 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARHGAP35 were set to PMID: 36178483
Phenotypes for gene: ARHGAP35 were set to Hypogonadotropic hypogonadism, MONDO:0015770, ARHGAP35-related
Hypogonadotropic hypogonadism v0.2 Chirag Patel Copied gene ANOS1 from panel Mendeliome
Hypogonadotropic hypogonadism v0.2 ANOS1 Chirag Patel gene: ANOS1 was added
gene: ANOS1 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ANOS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ANOS1 were set to 1594017; 8504298; 8989261
Phenotypes for gene: ANOS1 were set to Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), MIM# 308700
Intellectual disability syndromic and non-syndromic v1.496 PRMT9 Lucy Spencer Phenotypes for gene: PRMT9 were changed from Neurodevelopmental disorder, MONDO:0100500, PRMT9-related to Neurodevelopmental disorder, MONDO:0700092, PRMT9-related
Intellectual disability syndromic and non-syndromic v1.495 PRMT9 Lucy Spencer Publications for gene: PRMT9 were set to PMID: 38561334
Intellectual disability syndromic and non-syndromic v1.495 PRMT9 Lucy Spencer Classified gene: PRMT9 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.495 PRMT9 Lucy Spencer Gene: prmt9 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.494 Lucy Spencer Added reviews for gene PRMT9 from panel Mendeliome
Hand and foot malformations v0.80 Lucy Spencer Copied gene PRMT9 from panel Mendeliome
Hand and foot malformations v0.80 PRMT9 Lucy Spencer gene: PRMT9 was added
gene: PRMT9 was added to Hand and foot malformations. Sources: Expert Review Green,Literature
Mode of inheritance for gene: PRMT9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRMT9 were set to 38561334; 41260215
Phenotypes for gene: PRMT9 were set to Neurodevelopmental disorder, MONDO:0700092, PRMT9-related
Genetic Epilepsy v1.305 Lucy Spencer Copied gene PRMT9 from panel Mendeliome
Genetic Epilepsy v1.305 PRMT9 Lucy Spencer gene: PRMT9 was added
gene: PRMT9 was added to Genetic Epilepsy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: PRMT9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRMT9 were set to 38561334; 41260215
Phenotypes for gene: PRMT9 were set to Neurodevelopmental disorder, MONDO:0700092, PRMT9-related
Congenital Heart Defect v0.510 Lucy Spencer Copied gene PRMT9 from panel Mendeliome
Congenital Heart Defect v0.510 PRMT9 Lucy Spencer gene: PRMT9 was added
gene: PRMT9 was added to Congenital Heart Defect. Sources: Expert Review Green,Literature
Mode of inheritance for gene: PRMT9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRMT9 were set to 38561334; 41260215
Phenotypes for gene: PRMT9 were set to Neurodevelopmental disorder, MONDO:0700092, PRMT9-related
Mendeliome v1.3765 PRMT9 Lucy Spencer Phenotypes for gene: PRMT9 were changed from Neurodevelopmental disorder, MONDO:0100500, PRMT9-related to Neurodevelopmental disorder, MONDO:0700092, PRMT9-related
Mendeliome v1.3764 PRMT9 Lucy Spencer Publications for gene: PRMT9 were set to PMID: 38561334
Mendeliome v1.3763 PRMT9 Lucy Spencer Classified gene: PRMT9 as Green List (high evidence)
Mendeliome v1.3763 PRMT9 Lucy Spencer Gene: prmt9 has been classified as Green List (High Evidence).
Mendeliome v1.3762 PRMT9 Lucy Spencer reviewed gene: PRMT9: Rating: GREEN; Mode of pathogenicity: None; Publications: 41260215; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, PRMT9-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.3762 KCNQ3 Lucy Spencer changed review comment from: From ClinGen:

Definitive for DOMINANT complex neurodevelopmental disorder MONDO:0100038, KCNQ3-related - 24 probands across 7 publications, mostly de novo variants. Mutations are clustered at p.Arg227 and p.Arg230, with a gain of function mechanism PMID: 24851285.

Moderate for DOMINANT self-limited familial neonatal epilepsy (Seizures, benign neonatal, 2 (MIM#121201)) - 15 missense in 18 probands across 16 publications. Variants clustered in the pore region (S5, S6, and intervening loop) and result in loss of function of channel activity PMID: 24851285. Note- there are several NMD predicted variants in this gene with over 10 hets in gnomad.

Limited for RECESSIVE genetic developmental and epileptic encephalopathy MONDO:0100062, KCNQ3-related - 1 individual and 1 family from 2 publications with homozygous frameshifts PMID: 29852413; 31440727. All have seizures, various brain MRI findings, developmental delay and intellectual disability. The family had 3 similarly affected siblings, all homozygous for an NMD frameshift. The unrelated patient had a mildly affected uncle with learning difficulties and transient neonatal seizures, he was not tested for the variant.

A third recessive patient not reported by ClinGen PMID: 29383681: 7yo girl with seizures, severe neurological impairment, and developmental delay. Compound heterozygous for two missense variants Val359Leu and Asp542Asn. Patch clamp studies showed that expression of either variant alone did not affect current density, but co-expression of both variants lead to a significant current reduction.; to: From ClinGen:

Definitive for DOMINANT complex neurodevelopmental disorder MONDO:0100038, KCNQ3-related - 24 probands across 7 publications, mostly de novo variants. Mutations are clustered at p.Arg227 and p.Arg230, with a gain of function mechanism PMID: 24851285.

Moderate for DOMINANT self-limited familial neonatal epilepsy (Seizures, benign neonatal, 2 (MIM#121201)) - 15 missense in 18 probands across 16 publications. Variants clustered in the pore region (S5, S6, and intervening loop) and result in loss of function of channel activity PMID: 24851285. Note- there are several NMD predicted variants in this gene with over 10 hets in gnomad.

Limited for RECESSIVE genetic developmental and epileptic encephalopathy MONDO:0100062, KCNQ3-related - 1 individual and 1 family from 2 publications with homozygous frameshifts PMID: 29852413; 31440727. All have seizures, various brain MRI findings, developmental delay and intellectual disability. The family had 3 similarly affected siblings, all homozygous for an NMD frameshift. The unrelated patient had a mildly affected uncle with learning difficulties and transient neonatal seizures, he was not tested for the variant.

A third recessive patient not reported by ClinGen PMID: 29383681: 7yo girl with seizures, severe neurological impairment, and developmental delay. Compound heterozygous for two missense variants Val359Leu and Asp542Asn. Patch clamp studies showed that expression of either variant alone did not affect current density, but co-expression of both variants lead to a significant current reduction.

borderline amber/green for recessive
Mendeliome v1.3762 KCNQ3 Lucy Spencer Mode of inheritance for gene: KCNQ3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.3761 KCNQ3 Lucy Spencer Publications for gene: KCNQ3 were set to 33337327
Mendeliome v1.3760 KCNQ3 Lucy Spencer Phenotypes for gene: KCNQ3 were changed from Seizures, benign neonatal, 2, MIM# 121201 to Complex neurodevelopmental disorder MONDO:0100038, KCNQ3-related; Seizures, benign neonatal, 2 MIM#121201; genetic developmental and epileptic encephalopathy MONDO:0100062, KCNQ3-related
Mendeliome v1.3759 KCNQ3 Lucy Spencer reviewed gene: KCNQ3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24851285, 29852413, 31440727; Phenotypes: Complex neurodevelopmental disorder MONDO:0100038, KCNQ3-related, Seizures, benign neonatal, 2 MIM#121201, genetic developmental and epileptic encephalopathy MONDO:0100062, KCNQ3-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v1.481 SLC39A8 Zornitza Stark Phenotypes for gene: SLC39A8 were changed from Congenital disorder of glycosylation, type IIn , MIM#16721 to Congenital disorder of glycosylation, type IIn , MIM#616721
Fetal anomalies v1.480 SLC39A8 Zornitza Stark edited their review of gene: SLC39A8: Changed phenotypes: Congenital disorder of glycosylation, type IIn , MIM#616721
Intellectual disability syndromic and non-syndromic v1.493 SLC39A8 Zornitza Stark Phenotypes for gene: SLC39A8 were changed from Congenital disorder of glycosylation, type IIn , MIM#16721 to Congenital disorder of glycosylation, type IIn , MIM#616721
Intellectual disability syndromic and non-syndromic v1.492 SLC39A8 Zornitza Stark edited their review of gene: SLC39A8: Changed phenotypes: Congenital disorder of glycosylation, type IIn , MIM#616721
Genetic Epilepsy v1.304 SLC39A8 Zornitza Stark Phenotypes for gene: SLC39A8 were changed from Congenital disorder of glycosylation, type IIn , MIM#16721 to Congenital disorder of glycosylation, type IIn , MIM#616721
Genetic Epilepsy v1.303 SLC39A8 Zornitza Stark edited their review of gene: SLC39A8: Changed phenotypes: Congenital disorder of glycosylation, type IIn , MIM#616721
Mendeliome v1.3759 SLC39A8 Zornitza Stark Phenotypes for gene: SLC39A8 were changed from Congenital disorder of glycosylation, type IIn , MIM#16721 to Congenital disorder of glycosylation, type IIn , MIM#616721
Mendeliome v1.3758 SLC39A8 Zornitza Stark edited their review of gene: SLC39A8: Changed phenotypes: Congenital disorder of glycosylation, type IIn , MIM#616721
Congenital Disorders of Glycosylation v1.80 SLC39A8 Zornitza Stark Phenotypes for gene: SLC39A8 were changed from Congenital disorder of glycosylation, type IIn , MIM#16721 to Congenital disorder of glycosylation, type IIn , MIM#616721
Congenital Disorders of Glycosylation v1.79 SLC39A8 Zornitza Stark edited their review of gene: SLC39A8: Changed phenotypes: Congenital disorder of glycosylation, type IIn , MIM#616721
Mendeliome v1.3758 SLC12A6 Zornitza Stark Phenotypes for gene: SLC12A6 were changed from Andermann syndrome; Agenesis of the corpus callosum with peripheral neuropathy, MIM#21800; Charcot-Marie-Tooth disease, axonal, type 2II , MIM#620068 to Andermann syndrome; Agenesis of the corpus callosum with peripheral neuropathy, MIM#218000; Charcot-Marie-Tooth disease, axonal, type 2II , MIM#620068
Fetal anomalies v1.480 RSPRY1 Zornitza Stark Phenotypes for gene: RSPRY1 were changed from Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, 616585 to Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, 616585Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, MIM# 616723
Fetal anomalies v1.479 RSPRY1 Zornitza Stark edited their review of gene: RSPRY1: Changed phenotypes: Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, MIM# 616723
Skeletal dysplasia v0.363 RSPRY1 Zornitza Stark Phenotypes for gene: RSPRY1 were changed from Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, 616585 to Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, MIM# 616723
Skeletal dysplasia v0.362 RSPRY1 Zornitza Stark edited their review of gene: RSPRY1: Changed phenotypes: Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, MIM# 616723
Intellectual disability syndromic and non-syndromic v1.492 RSPRY1 Zornitza Stark Phenotypes for gene: RSPRY1 were changed from Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, 616585 to Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, MIM# 616723
Intellectual disability syndromic and non-syndromic v1.491 RSPRY1 Zornitza Stark edited their review of gene: RSPRY1: Changed phenotypes: Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, MIM# 616723
Mendeliome v1.3757 RSPRY1 Zornitza Stark Phenotypes for gene: RSPRY1 were changed from Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, 616585 to Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, MIM# 616723
Mendeliome v1.3756 RSPRY1 Zornitza Stark edited their review of gene: RSPRY1: Changed phenotypes: Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, MIM# 616723
Cardiac conduction disease v1.5 POPDC2 Zornitza Stark Phenotypes for gene: POPDC2 were changed from Heart conduction disease MONDO:0000992 to Cardiac conduction disease with or without cardiomyopathy 2, MIM# 621367
Cardiac conduction disease v1.4 POPDC2 Zornitza Stark reviewed gene: POPDC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiac conduction disease with or without cardiomyopathy 2, MIM# 621367; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.3756 POPDC2 Zornitza Stark Phenotypes for gene: POPDC2 were changed from Sinoatrial node disorder, MONDO:0000469, POPDC2-related to Cardiac conduction disease with or without cardiomyopathy 2, MIM# 621367
Mendeliome v1.3755 POPDC2 Zornitza Stark Publications for gene: POPDC2 were set to
Mendeliome v1.3754 POPDC2 Zornitza Stark reviewed gene: POPDC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiac conduction disease with or without cardiomyopathy 2, MIM# 621367; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy_HCM v1.20 POPDC2 Zornitza Stark Marked gene: POPDC2 as ready
Hypertrophic cardiomyopathy_HCM v1.20 POPDC2 Zornitza Stark Gene: popdc2 has been classified as Amber List (Moderate Evidence).
Hypertrophic cardiomyopathy_HCM v1.20 POPDC2 Zornitza Stark Phenotypes for gene: POPDC2 were changed from Hypertrophic cardiomyopathy MONDO:0005045, POPDC2-related to Cardiac conduction disease with or without cardiomyopathy 2, MIM# 621367
Hypertrophic cardiomyopathy_HCM v1.19 POPDC2 Zornitza Stark reviewed gene: POPDC2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiac conduction disease with or without cardiomyopathy 2, MIM# 621367; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v1.491 CTNND2 Monica Petica changed review comment from: PMID: 38604781 - heterozygous and homozygous loss of function microdeletion encompassing the last 19 exons of CTNND2 in consanguineous family. Three siblings with homozygous deletion have severe NDD including absent speech, profound motor delay, stereotypical behaviour and other. Heterozygous carriers (sibling and parents) showed milder NDD phenotype similar to previously reported heterozygous cases.
PMID: 25473103 - mother and daughter with borderline intelligence, learning problems and dyslexia carry balanced reciprocal translocations: t(1;8) (p22;q24) and t(5;18)(p15;q11). No genes were affected at breakpoints on chromosomes 1 and 8. The t(5;18) showed a breakpoint in intron 9 of CTNND2, while the chromosome 18 breakpoint was in a gene without morbid associations. The genes run in opposite directions and the fusion genes are predicted to cause loss of function. Third case with out of frame deletion exon 12-18 has mild intellectual disability, reading difficulties and facial features. The deletion is present in the mother in mosaic form.
PMID: 31814264 – de novo 97kb duplication, containing exon 3 of CTNND2, which is out of frame and predicted to undergo NMD, and was shown to be in tandem. The individual has developmental delay, behavioural problems and dysmorphic features. Secondary deletion on 5q14.1 deemed not pathogenic as present in mother and sibling without matching features. No functional studies available.
Not sure on biallelic/AR as single family with AR inheritance is consanguineous (although tested by exomes using ID gene panel). AD NDD/ID seems to have a loss of function mechanism and variable expressivity.; to: Additional cases:
PMID: 38604781 - heterozygous and homozygous loss of function microdeletion encompassing the last 19 exons of CTNND2 in consanguineous family. Three siblings with homozygous deletion have severe NDD including absent speech, profound motor delay, stereotypical behaviour and other. Heterozygous carriers (sibling and parents) showed milder NDD phenotype similar to previously reported heterozygous cases.
PMID: 25473103 - mother and daughter with borderline intelligence, learning problems and dyslexia carry balanced reciprocal translocations: t(1;8) (p22;q24) and t(5;18)(p15;q11). No genes were affected at breakpoints on chromosomes 1 and 8. The t(5;18) showed a breakpoint in intron 9 of CTNND2, while the chromosome 18 breakpoint was in a gene without morbid associations. The genes run in opposite directions and the fusion genes are predicted to cause loss of function. Third case with out of frame deletion exon 12-18 has mild intellectual disability, reading difficulties and facial features. The deletion is present in the mother in mosaic form.
PMID: 31814264 – de novo 97kb duplication, containing exon 3 of CTNND2, which is out of frame and predicted to undergo NMD, and was shown to be in tandem. The individual has developmental delay, behavioural problems and dysmorphic features. Secondary deletion on 5q14.1 deemed not pathogenic as present in mother and sibling without matching features. No functional studies available.
Not sure on biallelic/AR as single family with AR inheritance is consanguineous (although tested by exomes using ID gene panel). AD NDD/ID seems to have a loss of function mechanism and variable expressivity.
Intellectual disability syndromic and non-syndromic v1.491 CTNND2 Monica Petica changed review comment from: PMID: 38604781 - heterozygous and homozygous loss of function microdeletion encompassing the last 19 exons of CTNND2 in consanguineous family. Three siblings with homozygous deletion have severe NDD including absent speech, profound motor delay, stereotypical behaviour and other. Heterozygous carriers (sibling and parents) showed milder NDD phenotype similar to previously reported heterozygous cases.
PMID: 25473103 - mother and daughter with borderline intelligence, learning problems and dyslexia carry balanced reciprocal translocations: t(1;8) (p22;q24) and t(5;18)(p15;q11). No genes were affected at breakpoints on chromosomes 1 and 8. The t(5;18) showed a breakpoint in intron 9 of CTNND2, while the chromosome 18 breakpoint was in a gene without morbid associations. The genes run in opposite directions and the fusion genes are predicted to cause loss of function. Third case with out of frame deletion exon 12-18 has mild intellectual disability, reading difficulties and facial features. The deletion is present in the mother in mosaic form.
PMID: 31814264 – de novo 97kb duplication, containing exon 3 of CTNND2, which is out of frame and predicted to undergo NMD, and was shown to be in tandem. The individual has developmental delay, behavioural problems and dysmorphic features. Secondary deletion on 5q14.1 deemed not pathogenic as present in mother and sibling without matching features. No functional studies available.
Not sure on biallelic/AR as single family with AR inheritance is consanguineous (although tested by exomes using ID gene panel). AD NDD/ID seems to have a loss of function mechanisms and variable expressivity.; to: PMID: 38604781 - heterozygous and homozygous loss of function microdeletion encompassing the last 19 exons of CTNND2 in consanguineous family. Three siblings with homozygous deletion have severe NDD including absent speech, profound motor delay, stereotypical behaviour and other. Heterozygous carriers (sibling and parents) showed milder NDD phenotype similar to previously reported heterozygous cases.
PMID: 25473103 - mother and daughter with borderline intelligence, learning problems and dyslexia carry balanced reciprocal translocations: t(1;8) (p22;q24) and t(5;18)(p15;q11). No genes were affected at breakpoints on chromosomes 1 and 8. The t(5;18) showed a breakpoint in intron 9 of CTNND2, while the chromosome 18 breakpoint was in a gene without morbid associations. The genes run in opposite directions and the fusion genes are predicted to cause loss of function. Third case with out of frame deletion exon 12-18 has mild intellectual disability, reading difficulties and facial features. The deletion is present in the mother in mosaic form.
PMID: 31814264 – de novo 97kb duplication, containing exon 3 of CTNND2, which is out of frame and predicted to undergo NMD, and was shown to be in tandem. The individual has developmental delay, behavioural problems and dysmorphic features. Secondary deletion on 5q14.1 deemed not pathogenic as present in mother and sibling without matching features. No functional studies available.
Not sure on biallelic/AR as single family with AR inheritance is consanguineous (although tested by exomes using ID gene panel). AD NDD/ID seems to have a loss of function mechanism and variable expressivity.
Intellectual disability syndromic and non-syndromic v1.491 CTNND2 Monica Petica changed review comment from: PMID: 38604781 - heterozygous and homozygous loss of function microdeletion encompassing the last 19 exons of CTNND2 in consanguineous family. Three siblings with homozygous deletion have severe NDD including absent speech, profound motor delay, stereotypical behaviour and other. Heterozygous carriers (sibling and parents) showed milder NDD phenotype similar to previously reported heterozygous cases.
PMID: 25473103 - mother and daughter with borderline intelligence, learning problems and dyslexia carry balanced reciprocal translocations: t(1;8) (p22;q24) and t(5;18)(p15;q11). No genes were affected at breakpoints on chromosomes 1 and 8. The t(5;18) showed a breakpoint in intron 9 of CTNND2, while the chromosome 18 breakpoint was in a gene without morbid associations. The genes run in opposite directions and the fusion genes are predicted to cause loss of function. Third case with out of frame deletion exon 12-18 has mild intellectual disability, reading difficulties and facial features. The deletion is present in the mother in mosaic form.
PMID: 31814264 – de novo 97kb duplication, containing exon 3 of CTNND2, which is out of frame and predicted to undergo NMD, and was shown to be in tandem. The individual has developmental delay, behavioural problems and dysmorphic features. Secondary deletion on 5q14.1 deemed not pathogenic as present in mother and sibling without matching features. No functional studies available.
Not sure on biallelic/AR as single family with AR inheritance is consanguineous (although tested by exomes using ID gene panel). AD NDD/ID seems to have variable expressivity.; to: PMID: 38604781 - heterozygous and homozygous loss of function microdeletion encompassing the last 19 exons of CTNND2 in consanguineous family. Three siblings with homozygous deletion have severe NDD including absent speech, profound motor delay, stereotypical behaviour and other. Heterozygous carriers (sibling and parents) showed milder NDD phenotype similar to previously reported heterozygous cases.
PMID: 25473103 - mother and daughter with borderline intelligence, learning problems and dyslexia carry balanced reciprocal translocations: t(1;8) (p22;q24) and t(5;18)(p15;q11). No genes were affected at breakpoints on chromosomes 1 and 8. The t(5;18) showed a breakpoint in intron 9 of CTNND2, while the chromosome 18 breakpoint was in a gene without morbid associations. The genes run in opposite directions and the fusion genes are predicted to cause loss of function. Third case with out of frame deletion exon 12-18 has mild intellectual disability, reading difficulties and facial features. The deletion is present in the mother in mosaic form.
PMID: 31814264 – de novo 97kb duplication, containing exon 3 of CTNND2, which is out of frame and predicted to undergo NMD, and was shown to be in tandem. The individual has developmental delay, behavioural problems and dysmorphic features. Secondary deletion on 5q14.1 deemed not pathogenic as present in mother and sibling without matching features. No functional studies available.
Not sure on biallelic/AR as single family with AR inheritance is consanguineous (although tested by exomes using ID gene panel). AD NDD/ID seems to have a loss of function mechanisms and variable expressivity.
Intellectual disability syndromic and non-syndromic v1.491 CTNND2 Monica Petica changed review comment from: PMID: 38604781 - heterozygous and homozygous loss of function microdeletion encompassing the last 19 exons of CTNND2 in consanguineous family. Three siblings with homozygous deletion have severe NDD including absent speech, profound motor delay, stereotypical behaviour and other. Heterozygous carriers (sibling and parents) showed milder NDD phenotype similar to previously reported heterozygous cases.
PMID: 25473103 - mother and daughter with borderline intelligence, learning problems and dyslexia carry balanced reciprocal translocations: t(1;8) (p22;q24) and t(5;18)(p15;q11). No genes were affected at breakpoints on chromosomes 1 and 8. The t(5;18) showed a breakpoint in intron 9 of CTNND2, while the chromosome 18 breakpoint was in a gene without morbid associations. The genes run in opposite directions and the fusion genes are predicted to cause loss of function. Third case with out of frame deletion exon 12-18 has mild intellectual disability, reading difficulties and facial features. The deletion is present in the mother in mosaic form.
PMID: 31814264 – de novo 97kb duplication, containing exon 3 of CTNND2, which is out of frame and predicted to undergo NMD, and was shown to be in tandem. The individual has developmental delay, behavioural problems and dysmorphic features. Secondary deletion on 5q14.1 deemed not pathogenic as present in mother and sibling without matching features. No functional studies available.
Not sure on biallelic/AR as single family with AR inheritance is consanguineous (although tested by exomes using ID gene panel - first case). AD NDD/ID seems to have variable expressivity.; to: PMID: 38604781 - heterozygous and homozygous loss of function microdeletion encompassing the last 19 exons of CTNND2 in consanguineous family. Three siblings with homozygous deletion have severe NDD including absent speech, profound motor delay, stereotypical behaviour and other. Heterozygous carriers (sibling and parents) showed milder NDD phenotype similar to previously reported heterozygous cases.
PMID: 25473103 - mother and daughter with borderline intelligence, learning problems and dyslexia carry balanced reciprocal translocations: t(1;8) (p22;q24) and t(5;18)(p15;q11). No genes were affected at breakpoints on chromosomes 1 and 8. The t(5;18) showed a breakpoint in intron 9 of CTNND2, while the chromosome 18 breakpoint was in a gene without morbid associations. The genes run in opposite directions and the fusion genes are predicted to cause loss of function. Third case with out of frame deletion exon 12-18 has mild intellectual disability, reading difficulties and facial features. The deletion is present in the mother in mosaic form.
PMID: 31814264 – de novo 97kb duplication, containing exon 3 of CTNND2, which is out of frame and predicted to undergo NMD, and was shown to be in tandem. The individual has developmental delay, behavioural problems and dysmorphic features. Secondary deletion on 5q14.1 deemed not pathogenic as present in mother and sibling without matching features. No functional studies available.
Not sure on biallelic/AR as single family with AR inheritance is consanguineous (although tested by exomes using ID gene panel). AD NDD/ID seems to have variable expressivity.
Intellectual disability syndromic and non-syndromic v1.491 CTNND2 Monica Petica reviewed gene: CTNND2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38604781, PMID: 25473103, PMID: 31814264,; Phenotypes: Neurodevelopmental disorders (NDDs), intellectual disability (ID), autism, behavioural issues; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Ataxia v1.156 ESRRG Zornitza Stark Marked gene: ESRRG as ready
Ataxia v1.156 ESRRG Zornitza Stark Gene: esrrg has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.491 ESRRG Zornitza Stark Marked gene: ESRRG as ready
Intellectual disability syndromic and non-syndromic v1.491 ESRRG Zornitza Stark Gene: esrrg has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.491 Zornitza Stark Copied gene ESRRG from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.491 ESRRG Zornitza Stark gene: ESRRG was added
gene: ESRRG was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Literature
Mode of inheritance for gene: ESRRG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ESRRG were set to 41265451
Phenotypes for gene: ESRRG were set to Movement disorder, MONDO:0005395, ESRRG-related
Ataxia v1.156 Zornitza Stark Copied gene ESRRG from panel Mendeliome
Ataxia v1.156 ESRRG Zornitza Stark gene: ESRRG was added
gene: ESRRG was added to Ataxia. Sources: Expert Review Green,Literature
Mode of inheritance for gene: ESRRG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ESRRG were set to 41265451
Phenotypes for gene: ESRRG were set to Movement disorder, MONDO:0005395, ESRRG-related
Mendeliome v1.3754 ESRRG Zornitza Stark Marked gene: ESRRG as ready
Mendeliome v1.3754 ESRRG Zornitza Stark Gene: esrrg has been classified as Green List (High Evidence).
Mendeliome v1.3754 ESRRG Zornitza Stark Classified gene: ESRRG as Green List (high evidence)
Mendeliome v1.3754 ESRRG Zornitza Stark Gene: esrrg has been classified as Green List (High Evidence).
Mendeliome v1.3753 ESRRG Zornitza Stark gene: ESRRG was added
gene: ESRRG was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ESRRG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ESRRG were set to 41265451
Phenotypes for gene: ESRRG were set to Movement disorder, MONDO:0005395, ESRRG-related
Review for gene: ESRRG was set to GREEN
Added comment: Eight individuals from seven unrelated families reported with heterozygous, mostly de novo variants in ESRRG: c.410G>A (p.Gly137Glu), c.446A>G (p.Lys149Arg), c.539G>A (p.Cys180Tyr), c.550C>T (p.Arg184Cys), c.1346T>G (p.Leu449Arg), and c.1352dup (p.Leu451Phefs∗38). All individuals had motor developmental delay, muscular hypotonia, and eye movement disorders, as well as congenital ataxia or gait imbalance. Other symptoms included joint hyperflexibility, dysarthria, myopia, and growth delay. Supportive functional data.
Sources: Literature
Intellectual disability syndromic and non-syndromic v1.490 ELMSAN1 Zornitza Stark Marked gene: ELMSAN1 as ready
Intellectual disability syndromic and non-syndromic v1.490 ELMSAN1 Zornitza Stark Gene: elmsan1 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v1.1 ELMSAN1 Zornitza Stark Marked gene: ELMSAN1 as ready
Arthrogryposis v1.1 ELMSAN1 Zornitza Stark Gene: elmsan1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v1.490 Zornitza Stark Copied gene ELMSAN1 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.490 ELMSAN1 Zornitza Stark gene: ELMSAN1 was added
gene: ELMSAN1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Amber,Literature
new gene name tags were added to gene: ELMSAN1.
Mode of inheritance for gene: ELMSAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ELMSAN1 were set to Neurodevelopmental disorder, MONDO:0700092, ELMSAN1-related
Arthrogryposis v1.1 Zornitza Stark Copied gene ELMSAN1 from panel Mendeliome
Arthrogryposis v1.1 ELMSAN1 Zornitza Stark gene: ELMSAN1 was added
gene: ELMSAN1 was added to Arthrogryposis. Sources: Expert Review Amber,Literature
new gene name tags were added to gene: ELMSAN1.
Mode of inheritance for gene: ELMSAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ELMSAN1 were set to Neurodevelopmental disorder, MONDO:0700092, ELMSAN1-related
Mendeliome v1.3752 ELMSAN1 Zornitza Stark Marked gene: ELMSAN1 as ready
Mendeliome v1.3752 ELMSAN1 Zornitza Stark Gene: elmsan1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3752 ELMSAN1 Zornitza Stark Classified gene: ELMSAN1 as Amber List (moderate evidence)
Mendeliome v1.3752 ELMSAN1 Zornitza Stark Gene: elmsan1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3751 ELMSAN1 Zornitza Stark gene: ELMSAN1 was added
gene: ELMSAN1 was added to Mendeliome. Sources: Literature
new gene name tags were added to gene: ELMSAN1.
Mode of inheritance for gene: ELMSAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ELMSAN1 were set to Neurodevelopmental disorder, MONDO:0700092, ELMSAN1-related
Review for gene: ELMSAN1 was set to AMBER
Added comment: PMID 41290615 reports 2 individuals from 2 unrelated families with the same heterozygous de novo missense variant p.Tyr654Ser presenting with a neurodevelopmental disorder characterized by speech delay, joint contractures, dysmorphic facial features, and gastrointestinal dysmotility. Functional studies demonstrated that the Y654S variant lies in an auto‑inhibitory loop of the MiDAC HDAC complex, causes a 3‑5‑fold increase in deacetylase activity, shows increased phosphorylation, and leads to reciprocal gene‑expression changes in patient fibroblasts versus loss‑of‑function models.

New HGNC approved name is MIDEAS.
Sources: Literature
Intellectual disability syndromic and non-syndromic v1.489 SUCO Zornitza Stark Marked gene: SUCO as ready
Intellectual disability syndromic and non-syndromic v1.489 SUCO Zornitza Stark Gene: suco has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.489 Zornitza Stark Copied gene SUCO from panel Osteogenesis Imperfecta and Osteoporosis
Intellectual disability syndromic and non-syndromic v1.489 SUCO Zornitza Stark gene: SUCO was added
gene: SUCO was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: SUCO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUCO were set to 29620724; 20440000; 41282771
Phenotypes for gene: SUCO were set to Syndromic disease (MONDO:0002254), SUCO-related
Osteogenesis Imperfecta and Osteoporosis v1.16 SUCO Zornitza Stark Phenotypes for gene: SUCO were changed from Osteogenesis imperfecta, MONDO:0019019, SUCO-related to Syndromic disease (MONDO:0002254), SUCO-related
Osteogenesis Imperfecta and Osteoporosis v1.15 SUCO Zornitza Stark Publications for gene: SUCO were set to 29620724; 20440000
Osteogenesis Imperfecta and Osteoporosis v1.14 SUCO Zornitza Stark Classified gene: SUCO as Green List (high evidence)
Osteogenesis Imperfecta and Osteoporosis v1.14 SUCO Zornitza Stark Gene: suco has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v1.13 SUCO Zornitza Stark edited their review of gene: SUCO: Added comment: PMID 41282771: 13 individuals from 6 families reported with bi-allelic variants in this gene and features of spastic CP and OI. Identified variants included 2 truncating, 3 missense, and 3 canonical splice site variants. SUCO knockout (KO) (Opt −/−) mice display impaired bone formation and spontaneous fractures but also have evidence of a neurological phenotype with imbalanced gait and an impaired righting response. Drosophila model system using nervous system-specific RNAi knockdown of the SUCO ortholog (CG31678) showed neurological impairments occur independent of skeletal phenotypes.; Changed rating: GREEN; Changed publications: 20440000, 41282771; Changed phenotypes: Syndromic disease (MONDO:0002254), SUCO-related
Mendeliome v1.3750 SUCO Zornitza Stark Phenotypes for gene: SUCO were changed from Osteogenesis imperfecta, MONDO:0019019, SUCO-related to Syndromic disease (MONDO:0002254), SUCO-related
Mendeliome v1.3749 SUCO Zornitza Stark Publications for gene: SUCO were set to 29620724; 20440000
Mendeliome v1.3748 SUCO Zornitza Stark Classified gene: SUCO as Green List (high evidence)
Mendeliome v1.3748 SUCO Zornitza Stark Gene: suco has been classified as Green List (High Evidence).
Mendeliome v1.3747 SUCO Zornitza Stark edited their review of gene: SUCO: Added comment: PMID 41282771: 13 individuals from 6 families reported with bi-allelic variants in this gene and features of spastic CP and OI. Identified variants included 2 truncating, 3 missense, and 3 canonical splice site variants. SUCO knockout (KO) (Opt −/−) mice display impaired bone formation and spontaneous fractures but also have evidence of a neurological phenotype with imbalanced gait and an impaired righting response. Drosophila model system using nervous system-specific RNAi knockdown of the SUCO ortholog (CG31678) showed neurological impairments occur independent of skeletal phenotypes.; Changed rating: GREEN; Changed publications: 20440000, 41282771; Changed phenotypes: Syndromic disease (MONDO:0002254), SUCO-related; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebral Palsy v1.405 SUCO Zornitza Stark Marked gene: SUCO as ready
Cerebral Palsy v1.405 SUCO Zornitza Stark Gene: suco has been classified as Green List (High Evidence).
Cerebral Palsy v1.405 SUCO Zornitza Stark Classified gene: SUCO as Green List (high evidence)
Cerebral Palsy v1.405 SUCO Zornitza Stark Gene: suco has been classified as Green List (High Evidence).
Cerebral Palsy v1.404 SUCO Zornitza Stark gene: SUCO was added
gene: SUCO was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: SUCO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUCO were set to 20440000; 41282771
Phenotypes for gene: SUCO were set to Syndromic disease (MONDO:0002254), SUCO-related
Review for gene: SUCO was set to GREEN
Added comment: PMID 41282771: 13 individuals from 6 families reported with bi-allelic variants in this gene and features of spastic CP and OI. Identified variants included 2 truncating, 3 missense, and 3 canonical splice site variants. SUCO knockout (KO) (Opt −/−) mice display impaired bone formation and spontaneous fractures but also have evidence of a neurological phenotype with imbalanced gait and an impaired righting response. Drosophila model system using nervous system-specific RNAi knockdown of the SUCO ortholog (CG31678) showed neurological impairments occur independent of skeletal phenotypes.
Sources: Literature
Mendeliome v1.3747 KCTD1 Zornitza Stark Phenotypes for gene: KCTD1 were changed from Scalp-ear-nipple syndrome MIM#181270 to Scalp-ear-nipple syndrome MIM#181270; Dental radicular dysplasia, MIM# 621434
Mendeliome v1.3746 KCTD1 Zornitza Stark Publications for gene: KCTD1 were set to 23541344; 31324836
Mendeliome v1.3745 KCTD1 Zornitza Stark reviewed gene: KCTD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 38791218; Phenotypes: Dental radicular dysplasia, MIM# 621434; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v1.488 GTF2H4 Zornitza Stark Marked gene: GTF2H4 as ready
Intellectual disability syndromic and non-syndromic v1.488 GTF2H4 Zornitza Stark Gene: gtf2h4 has been classified as Red List (Low Evidence).
Microcephaly v1.375 GTF2H4 Zornitza Stark Marked gene: GTF2H4 as ready
Microcephaly v1.375 GTF2H4 Zornitza Stark Gene: gtf2h4 has been classified as Red List (Low Evidence).
Mendeliome v1.3745 GTF2H4 Zornitza Stark Marked gene: GTF2H4 as ready
Mendeliome v1.3745 GTF2H4 Zornitza Stark Gene: gtf2h4 has been classified as Red List (Low Evidence).
Microcephaly v1.375 Zornitza Stark Copied gene GTF2H4 from panel Photosensitivity Syndromes
Microcephaly v1.375 GTF2H4 Zornitza Stark gene: GTF2H4 was added
gene: GTF2H4 was added to Microcephaly. Sources: Expert Review Red,Literature
Mode of inheritance for gene: GTF2H4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTF2H4 were set to 40924495; 40924475
Phenotypes for gene: GTF2H4 were set to Xeroderma pigmentosum, complementation group J, MIM# 621435
Mendeliome v1.3745 Zornitza Stark Copied gene GTF2H4 from panel Photosensitivity Syndromes
Mendeliome v1.3745 GTF2H4 Zornitza Stark gene: GTF2H4 was added
gene: GTF2H4 was added to Mendeliome. Sources: Expert Review Red,Literature
Mode of inheritance for gene: GTF2H4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTF2H4 were set to 40924495; 40924475
Phenotypes for gene: GTF2H4 were set to Xeroderma pigmentosum, complementation group J, MIM# 621435
Intellectual disability syndromic and non-syndromic v1.488 Zornitza Stark Copied gene GTF2H4 from panel Photosensitivity Syndromes
Intellectual disability syndromic and non-syndromic v1.488 GTF2H4 Zornitza Stark gene: GTF2H4 was added
gene: GTF2H4 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Red,Literature
Mode of inheritance for gene: GTF2H4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTF2H4 were set to 40924495; 40924475
Phenotypes for gene: GTF2H4 were set to Xeroderma pigmentosum, complementation group J, MIM# 621435
Photosensitivity Syndromes v1.11 GTF2H4 Zornitza Stark Phenotypes for gene: GTF2H4 were changed from Xeroderma pigmentosa, MONDO:0019600, GTF2H4-related to Xeroderma pigmentosum, complementation group J, MIM# 621435
Photosensitivity Syndromes v1.10 GTF2H4 Zornitza Stark edited their review of gene: GTF2H4: Changed phenotypes: Xeroderma pigmentosum, complementation group J, MIM# 621435
Callosome v0.575 KMT2A Boris Keren gene: KMT2A was added
gene: KMT2A was added to Callosome. Sources: Literature
Mode of inheritance for gene: KMT2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KMT2A were set to 32641752
Phenotypes for gene: KMT2A were set to intellectual disabilty; corpus callosum anomalies; dysmorphism; growth failure; broad thumbs; microcephaly; cryptorchidism; heart malformation; epilepsy; hirsutism
Penetrance for gene: KMT2A were set to Incomplete
Mode of pathogenicity for gene: KMT2A 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: KMT2A was set to GREEN
gene: KMT2A was marked as current diagnostic
Added comment: 15-20% of Wiedemann–Steiner have corpus callosum anomalies PMID: 32641752
Sources: Literature
Mitochondrial disease v0.1273 RRM2B Zornitza Stark Marked gene: RRM2B as ready
Mitochondrial disease v0.1273 RRM2B Zornitza Stark Gene: rrm2b has been classified as Green List (High Evidence).
Mitochondrial disease v0.1273 RRM2B Zornitza Stark Phenotypes for gene: RRM2B were changed from to Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) MIM#612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075
Mitochondrial disease v0.1272 RRM2B Zornitza Stark Publications for gene: RRM2B were set to
Mitochondrial disease v0.1271 RRM2B Zornitza Stark Mode of inheritance for gene: RRM2B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1270 RARS2 Zornitza Stark Marked gene: RARS2 as ready
Mitochondrial disease v0.1270 RARS2 Zornitza Stark Gene: rars2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1270 RARS2 Zornitza Stark Phenotypes for gene: RARS2 were changed from to Pontocerebellar hypoplasia, type 6, MIM# 611523
Mitochondrial disease v0.1269 RARS2 Zornitza Stark Publications for gene: RARS2 were set to
Mitochondrial disease v0.1268 RARS2 Zornitza Stark Mode of inheritance for gene: RARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1267 PPA2 Zornitza Stark Marked gene: PPA2 as ready
Mitochondrial disease v0.1267 PPA2 Zornitza Stark Gene: ppa2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1267 PPA2 Zornitza Stark Phenotypes for gene: PPA2 were changed from to Sudden cardiac failure, alcohol-induced, 617223; Sudden cardiac failure, infantile, 617222
Mitochondrial disease v0.1266 PPA2 Zornitza Stark Publications for gene: PPA2 were set to
Mitochondrial disease v0.1265 PPA2 Zornitza Stark Mode of inheritance for gene: PPA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1264 POLG Zornitza Stark Marked gene: POLG as ready
Mitochondrial disease v0.1264 POLG Zornitza Stark Gene: polg has been classified as Green List (High Evidence).
Mitochondrial disease v0.1264 POLG Zornitza Stark Phenotypes for gene: POLG were changed from to Mitochondrial DNA depletion syndrome 4A (Alpers type) MIM#203700; Mitochondrial DNA depletion syndrome 4B (MNGIE type) MIM#613662; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) MIM#607459; Progressive external ophthalmoplegia, autosomal recessive 1 MIM#258450
Mitochondrial disease v0.1263 POLG Zornitza Stark Publications for gene: POLG were set to
Mitochondrial disease v0.1262 POLG Zornitza Stark Mode of inheritance for gene: POLG was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.1261 PMPCB Zornitza Stark Marked gene: PMPCB as ready
Mitochondrial disease v0.1261 PMPCB Zornitza Stark Gene: pmpcb has been classified as Green List (High Evidence).
Mitochondrial disease v0.1261 PMPCB Zornitza Stark Phenotypes for gene: PMPCB were changed from to Multiple mitochondrial dysfunctions syndrome 6, MIM# 617954
Mitochondrial disease v0.1260 PMPCB Zornitza Stark Publications for gene: PMPCB were set to
Mitochondrial disease v0.1259 PMPCB Zornitza Stark Mode of inheritance for gene: PMPCB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1258 PDSS2 Zornitza Stark Marked gene: PDSS2 as ready
Mitochondrial disease v0.1258 PDSS2 Zornitza Stark Gene: pdss2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1258 PDSS2 Zornitza Stark Phenotypes for gene: PDSS2 were changed from to Coenzyme Q10 deficiency, primary, 3 MIM#614652
Mitochondrial disease v0.1257 PDSS2 Zornitza Stark Publications for gene: PDSS2 were set to
Mitochondrial disease v0.1256 PDSS2 Zornitza Stark Mode of inheritance for gene: PDSS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1255 PDP1 Zornitza Stark Marked gene: PDP1 as ready
Mitochondrial disease v0.1255 PDP1 Zornitza Stark Gene: pdp1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1255 PDP1 Zornitza Stark Phenotypes for gene: PDP1 were changed from to Pyruvate dehydrogenase phosphatase deficiency - MIM#608782
Mitochondrial disease v0.1254 PDP1 Zornitza Stark Publications for gene: PDP1 were set to
Mitochondrial disease v0.1253 PDP1 Zornitza Stark Mode of inheritance for gene: PDP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1252 PDHX Zornitza Stark Marked gene: PDHX as ready
Mitochondrial disease v0.1252 PDHX Zornitza Stark Gene: pdhx has been classified as Green List (High Evidence).
Mitochondrial disease v0.1252 PDHX Zornitza Stark Phenotypes for gene: PDHX were changed from Lacticacidaemia due to PDX1 deficiency MIM#245349 to Lactic acidaemia due to PDX1 deficiency MIM#245349
Mitochondrial disease v0.1251 PDHX Zornitza Stark Phenotypes for gene: PDHX were changed from to Lacticacidaemia due to PDX1 deficiency MIM#245349
Mitochondrial disease v0.1250 PDHX Zornitza Stark Publications for gene: PDHX were set to
Mitochondrial disease v0.1249 PDHX Zornitza Stark Mode of inheritance for gene: PDHX was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1248 PDHB Zornitza Stark Marked gene: PDHB as ready
Mitochondrial disease v0.1248 PDHB Zornitza Stark Gene: pdhb has been classified as Green List (High Evidence).
Mitochondrial disease v0.1248 PDHB Zornitza Stark Phenotypes for gene: PDHB were changed from to Pyruvate dehydrogenase E1-beta deficiency - MIM#614111
Mitochondrial disease v0.1247 PDHB Zornitza Stark Mode of inheritance for gene: PDHB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ataxia v1.155 OPA1 Zornitza Stark Phenotypes for gene: OPA1 were changed from Behr syndrome, 210000; Optic atrophy plus syndrome, 125250; Optic atrophy 1, 165500 to OPA1-related optic atrophy with or without extraocular features, MONDO:0800181
Deafness_IsolatedAndComplex v1.302 OPA1 Zornitza Stark Phenotypes for gene: OPA1 were changed from Optic atrophy plus syndrome, MIM# 125250 to OPA1-related optic atrophy with or without extraocular features, MONDO:0800181
Deafness_IsolatedAndComplex v1.301 OPA1 Zornitza Stark edited their review of gene: OPA1: Changed phenotypes: OPA1-related optic atrophy with or without extraocular features, MONDO:0800181
Optic Atrophy v1.61 OPA1 Zornitza Stark Phenotypes for gene: OPA1 were changed from Optic atrophy 1 165500; Optic atrophy plus syndrome, MIM# 125250; Behr syndrome, MIM# 210000 to OPA1-related optic atrophy with or without extraocular features, MONDO:0800181
Mendeliome v1.3744 OPA1 Zornitza Stark Phenotypes for gene: OPA1 were changed from Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)MIM# 616896; Behr syndrome MIM#210000, AR; Optic atrophy 1, MIM#165500; Optic atrophy plus syndrome, MIM# 125250 to OPA1-related optic atrophy with or without extraocular features, MONDO:0800181
Mendeliome v1.3743 OPA1 Zornitza Stark Publications for gene: OPA1 were set to 30165240
Mendeliome v1.3743 OPA1 Zornitza Stark Publications for gene: OPA1 were set to
Optic Atrophy v1.60 Zornitza Stark Added reviews for gene OPA1 from panel Mitochondrial disease
Mendeliome v1.3743 Zornitza Stark Added reviews for gene OPA1 from panel Mitochondrial disease
Deafness_IsolatedAndComplex v1.301 Zornitza Stark Added reviews for gene OPA1 from panel Mitochondrial disease
Ataxia v1.154 Zornitza Stark Added reviews for gene OPA1 from panel Mitochondrial disease
Mitochondrial disease v0.1246 OPA1 Zornitza Stark reviewed gene: OPA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: OPA1-related optic atrophy with or without extraocular features, MONDO:0800181; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mitochondrial disease v0.1246 OPA1 Zornitza Stark Marked gene: OPA1 as ready
Mitochondrial disease v0.1246 OPA1 Zornitza Stark Gene: opa1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1246 OPA1 Zornitza Stark Phenotypes for gene: OPA1 were changed from to OPA1-related optic atrophy with or without extraocular features, MONDO:0800181
Mitochondrial disease v0.1245 OPA1 Zornitza Stark Publications for gene: OPA1 were set to
Mitochondrial disease v0.1244 OPA1 Zornitza Stark Mode of inheritance for gene: OPA1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mitochondrial disease v0.1243 NDUFV1 Zornitza Stark Marked gene: NDUFV1 as ready
Mitochondrial disease v0.1243 NDUFV1 Zornitza Stark Gene: ndufv1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1243 NDUFV1 Zornitza Stark Phenotypes for gene: NDUFV1 were changed from to Mitochondrial complex I deficiency, nuclear type 4 MIM#618225
Mitochondrial disease v0.1242 NDUFV1 Zornitza Stark Publications for gene: NDUFV1 were set to
Mitochondrial disease v0.1241 NDUFV1 Zornitza Stark Mode of inheritance for gene: NDUFV1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1240 NDUFS8 Zornitza Stark Marked gene: NDUFS8 as ready
Mitochondrial disease v0.1240 NDUFS8 Zornitza Stark Gene: ndufs8 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1240 NDUFS8 Zornitza Stark Phenotypes for gene: NDUFS8 were changed from to Mitochondrial complex I deficiency, nuclear type 2 MIM#618222
Mitochondrial disease v0.1239 NDUFS8 Zornitza Stark Publications for gene: NDUFS8 were set to
Mitochondrial disease v0.1238 NDUFS8 Zornitza Stark Mode of inheritance for gene: NDUFS8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1237 NDUFS7 Zornitza Stark Marked gene: NDUFS7 as ready
Mitochondrial disease v0.1237 NDUFS7 Zornitza Stark Gene: ndufs7 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1237 NDUFS7 Zornitza Stark Phenotypes for gene: NDUFS7 were changed from to Mitochondrial complex I deficiency, nuclear type 3 (MIM# 618224)
Mitochondrial disease v0.1236 NDUFS7 Zornitza Stark Publications for gene: NDUFS7 were set to
Mitochondrial disease v0.1235 NDUFS7 Zornitza Stark Mode of inheritance for gene: NDUFS7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1234 NDUFAF5 Zornitza Stark Marked gene: NDUFAF5 as ready
Mitochondrial disease v0.1234 NDUFAF5 Zornitza Stark Gene: ndufaf5 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1234 NDUFAF5 Zornitza Stark Phenotypes for gene: NDUFAF5 were changed from to Mitochondrial complex I deficiency, nuclear type 3 MIM#618224
Mitochondrial disease v0.1233 NDUFAF5 Zornitza Stark Publications for gene: NDUFAF5 were set to
Mitochondrial disease v0.1232 NDUFAF5 Zornitza Stark Mode of inheritance for gene: NDUFAF5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1231 NDUFA1 Zornitza Stark Marked gene: NDUFA1 as ready
Mitochondrial disease v0.1231 NDUFA1 Zornitza Stark Gene: ndufa1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1231 NDUFA1 Zornitza Stark Phenotypes for gene: NDUFA1 were changed from to Mitochondrial complex I deficiency, nuclear type 12 MIM#301020
Mitochondrial disease v0.1230 NDUFA1 Zornitza Stark Publications for gene: NDUFA1 were set to
Mitochondrial disease v0.1229 NDUFA1 Zornitza Stark Mode of inheritance for gene: NDUFA1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mitochondrial disease v0.1228 MPV17 Zornitza Stark Marked gene: MPV17 as ready
Mitochondrial disease v0.1228 MPV17 Zornitza Stark Gene: mpv17 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1228 MPV17 Zornitza Stark Phenotypes for gene: MPV17 were changed from to Charcot-Marie-Tooth disease, axonal, type 2EE, MIM# 618400
Mitochondrial disease v0.1227 MPV17 Zornitza Stark Publications for gene: MPV17 were set to
Mitochondrial disease v0.1226 MPV17 Zornitza Stark Mode of inheritance for gene: MPV17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1225 MFN2 Zornitza Stark Marked gene: MFN2 as ready
Mitochondrial disease v0.1225 MFN2 Zornitza Stark Gene: mfn2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1225 MFN2 Zornitza Stark Phenotypes for gene: MFN2 were changed from to Charcot-Marie-Tooth disease, axonal, type 2A2A 609260; Charcot-Marie-Tooth disease, axonal, type 2A2B, MIM# 617087; Hereditary motor and sensory neuropathy VIA, MIM# 601152
Mitochondrial disease v0.1224 MFN2 Zornitza Stark Publications for gene: MFN2 were set to
Mitochondrial disease v0.1223 MFN2 Zornitza Stark Mode of inheritance for gene: MFN2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.1222 TAZ Zornitza Stark Marked gene: TAZ as ready
Mitochondrial disease v0.1222 TAZ Zornitza Stark Gene: taz has been classified as Green List (High Evidence).
Mitochondrial disease v0.1222 TAZ Zornitza Stark Phenotypes for gene: TAZ were changed from to Barth syndrome, MIM# 302060
Mitochondrial disease v0.1221 TAZ Zornitza Stark Mode of inheritance for gene: TAZ was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mitochondrial disease v0.1220 MFF Zornitza Stark Marked gene: MFF as ready
Mitochondrial disease v0.1220 MFF Zornitza Stark Gene: mff has been classified as Green List (High Evidence).
Mitochondrial disease v0.1220 MFF Zornitza Stark Phenotypes for gene: MFF were changed from to Encephalopathy due to defective mitochondrial and peroxisomal fission 2, MIM# 617086
Mitochondrial disease v0.1219 MFF Zornitza Stark Publications for gene: MFF were set to
Mitochondrial disease v0.1218 MFF Zornitza Stark Mode of inheritance for gene: MFF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1217 MDH2 Zornitza Stark Marked gene: MDH2 as ready
Mitochondrial disease v0.1217 MDH2 Zornitza Stark Gene: mdh2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1217 MDH2 Zornitza Stark Phenotypes for gene: MDH2 were changed from to Developmental and epileptic encephalopathy 51 MIM#617339
Mitochondrial disease v0.1216 MDH2 Zornitza Stark Publications for gene: MDH2 were set to
Mitochondrial disease v0.1215 MDH2 Zornitza Stark Mode of inheritance for gene: MDH2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1214 LYRM7 Zornitza Stark Marked gene: LYRM7 as ready
Mitochondrial disease v0.1214 LYRM7 Zornitza Stark Gene: lyrm7 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1214 LYRM7 Zornitza Stark Phenotypes for gene: LYRM7 were changed from to Mitochondrial complex III deficiency, nuclear type 8 - MIM#615838
Mitochondrial disease v0.1213 LYRM7 Zornitza Stark Mode of inheritance for gene: LYRM7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.3742 Zornitza Stark Added reviews for gene PPM1K from panel Aminoacidopathy
Intellectual disability syndromic and non-syndromic v1.487 Zornitza Stark Added reviews for gene PPM1K from panel Aminoacidopathy
Aminoacidopathy v1.138 PPM1K Zornitza Stark edited their review of gene: PPM1K: Added comment: Additional individual reported in PMID 40047138 noted. However, variant is homozygous missense and thus a VOUS.; Changed rating: AMBER; Changed publications: 23086801, 40047138
Intellectual disability syndromic and non-syndromic v1.486 ISCA-37390-Loss Zornitza Stark Marked Region: ISCA-37390-Loss as ready
Intellectual disability syndromic and non-syndromic v1.486 ISCA-37390-Loss Zornitza Stark Region: isca-37390-loss has been classified as Green List (High Evidence).
Microcephaly v1.374 ISCA-37390-Loss Zornitza Stark Marked Region: ISCA-37390-Loss as ready
Microcephaly v1.374 ISCA-37390-Loss Zornitza Stark Region: isca-37390-loss has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.486 ISCA-37392-Gain Zornitza Stark Marked Region: ISCA-37392-Gain as ready
Intellectual disability syndromic and non-syndromic v1.486 ISCA-37392-Gain Zornitza Stark Region: isca-37392-gain has been classified as Green List (High Evidence).
Congenital Heart Defect v0.509 ISCA-37392-Loss Zornitza Stark Marked Region: ISCA-37392-Loss as ready
Congenital Heart Defect v0.509 ISCA-37392-Loss Zornitza Stark Region: isca-37392-loss has been classified as Green List (High Evidence).
Growth failure v1.86 ISCA-37392-Loss Zornitza Stark Marked Region: ISCA-37392-Loss as ready
Growth failure v1.86 ISCA-37392-Loss Zornitza Stark Region: isca-37392-loss has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.486 ISCA-37392-Loss Zornitza Stark Marked Region: ISCA-37392-Loss as ready
Intellectual disability syndromic and non-syndromic v1.486 ISCA-37392-Loss Zornitza Stark Region: isca-37392-loss has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v1.53 ISCA-37393-Gain Zornitza Stark Marked Region: ISCA-37393-Gain as ready
Anophthalmia_Microphthalmia_Coloboma v1.53 ISCA-37393-Gain Zornitza Stark Region: isca-37393-gain has been classified as Green List (High Evidence).
Clefting disorders v0.293 ISCA-37393-Gain Zornitza Stark Marked Region: ISCA-37393-Gain as ready
Clefting disorders v0.293 ISCA-37393-Gain Zornitza Stark Region: isca-37393-gain has been classified as Green List (High Evidence).
Congenital Heart Defect v0.509 ISCA-37393-Gain Zornitza Stark Marked Region: ISCA-37393-Gain as ready
Congenital Heart Defect v0.509 ISCA-37393-Gain Zornitza Stark Region: isca-37393-gain has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.300 ISCA-37393-Gain Zornitza Stark Marked Region: ISCA-37393-Gain as ready
Deafness_IsolatedAndComplex v1.300 ISCA-37393-Gain Zornitza Stark Region: isca-37393-gain has been classified as Green List (High Evidence).
Fetal anomalies v1.479 ISCA-37393-Gain Zornitza Stark Marked Region: ISCA-37393-Gain as ready
Fetal anomalies v1.479 ISCA-37393-Gain Zornitza Stark Region: isca-37393-gain has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.486 ISCA-37393-Gain Zornitza Stark Marked Region: ISCA-37393-Gain as ready
Intellectual disability syndromic and non-syndromic v1.486 ISCA-37393-Gain Zornitza Stark Region: isca-37393-gain has been classified as Green List (High Evidence).
Hand and foot malformations v0.79 ISCA-37394-Loss Zornitza Stark Marked Region: ISCA-37394-Loss as ready
Hand and foot malformations v0.79 ISCA-37394-Loss Zornitza Stark Region: isca-37394-loss has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.486 ISCA-37394-Loss Zornitza Stark Marked Region: ISCA-37394-Loss as ready
Intellectual disability syndromic and non-syndromic v1.486 ISCA-37394-Loss Zornitza Stark Region: isca-37394-loss has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.486 ISCA-37396-Loss Zornitza Stark Marked Region: ISCA-37396-Loss as ready
Intellectual disability syndromic and non-syndromic v1.486 ISCA-37396-Loss Zornitza Stark Region: isca-37396-loss has been classified as Green List (High Evidence).
Microcephaly v1.374 ISCA-37396-Loss Zornitza Stark Marked Region: ISCA-37396-Loss as ready
Microcephaly v1.374 ISCA-37396-Loss Zornitza Stark Region: isca-37396-loss has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.486 ISCA-37397-Gain Zornitza Stark Marked Region: ISCA-37397-Gain as ready
Intellectual disability syndromic and non-syndromic v1.486 ISCA-37397-Gain Zornitza Stark Region: isca-37397-gain has been classified as Green List (High Evidence).
Congenital Heart Defect v0.509 ISCA-37397-Loss Zornitza Stark Marked Region: ISCA-37397-Loss as ready
Congenital Heart Defect v0.509 ISCA-37397-Loss Zornitza Stark Region: isca-37397-loss has been classified as Green List (High Evidence).
Growth failure v1.86 ISCA-37397-Loss Zornitza Stark Marked Region: ISCA-37397-Loss as ready
Growth failure v1.86 ISCA-37397-Loss Zornitza Stark Region: isca-37397-loss has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.486 ISCA-37397-Loss Zornitza Stark Marked Region: ISCA-37397-Loss as ready
Intellectual disability syndromic and non-syndromic v1.486 ISCA-37397-Loss Zornitza Stark Region: isca-37397-loss has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.486 ISCA-37400-Gain Zornitza Stark Marked Region: ISCA-37400-Gain as ready
Intellectual disability syndromic and non-syndromic v1.486 ISCA-37400-Gain Zornitza Stark Region: isca-37400-gain has been classified as Green List (High Evidence).
Autism v0.233 ISCA-37400-Loss Zornitza Stark Marked Region: ISCA-37400-Loss as ready
Autism v0.233 ISCA-37400-Loss Zornitza Stark Region: isca-37400-loss has been classified as Green List (High Evidence).
Genetic Epilepsy v1.303 ISCA-37400-Loss Zornitza Stark Marked Region: ISCA-37400-Loss as ready
Genetic Epilepsy v1.303 ISCA-37400-Loss Zornitza Stark Region: isca-37400-loss has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.486 ISCA-37400-Loss Zornitza Stark Marked Region: ISCA-37400-Loss as ready
Intellectual disability syndromic and non-syndromic v1.486 ISCA-37400-Loss Zornitza Stark Region: isca-37400-loss has been classified as Green List (High Evidence).
Autism v0.233 ISCA-37404-Gain Zornitza Stark Marked Region: ISCA-37404-Gain as ready
Autism v0.233 ISCA-37404-Gain Zornitza Stark Region: isca-37404-gain has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.486 ISCA-37404-Gain Zornitza Stark Marked Region: ISCA-37404-Gain as ready
Intellectual disability syndromic and non-syndromic v1.486 ISCA-37404-Gain Zornitza Stark Region: isca-37404-gain has been classified as Green List (High Evidence).
Mitochondrial disease v0.1212 LRPPRC Zornitza Stark Marked gene: LRPPRC as ready
Mitochondrial disease v0.1212 LRPPRC Zornitza Stark Gene: lrpprc has been classified as Green List (High Evidence).
Mitochondrial disease v0.1212 LRPPRC Zornitza Stark Phenotypes for gene: LRPPRC were changed from to Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) MIM#220111
Mitochondrial disease v0.1211 LRPPRC Zornitza Stark Publications for gene: LRPPRC were set to
Mitochondrial disease v0.1210 LRPPRC Zornitza Stark Mode of inheritance for gene: LRPPRC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1209 LIPT2 Zornitza Stark Marked gene: LIPT2 as ready
Mitochondrial disease v0.1209 LIPT2 Zornitza Stark Gene: lipt2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1209 LIPT2 Zornitza Stark Phenotypes for gene: LIPT2 were changed from to Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, MIM# 617668
Mitochondrial disease v0.1208 LIPT2 Zornitza Stark Publications for gene: LIPT2 were set to
Mitochondrial disease v0.1207 LIPT2 Zornitza Stark Mode of inheritance for gene: LIPT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1206 LIAS Zornitza Stark Marked gene: LIAS as ready
Mitochondrial disease v0.1206 LIAS Zornitza Stark Gene: lias has been classified as Green List (High Evidence).
Mitochondrial disease v0.1206 LIAS Zornitza Stark Phenotypes for gene: LIAS were changed from to Hyperglycinaemia, lactic acidosis, and seizures, MIM# 614462
Mitochondrial disease v0.1205 LIAS Zornitza Stark Publications for gene: LIAS were set to
Mitochondrial disease v0.1204 LIAS Zornitza Stark Mode of inheritance for gene: LIAS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1203 LARS2 Zornitza Stark Marked gene: LARS2 as ready
Mitochondrial disease v0.1203 LARS2 Zornitza Stark Gene: lars2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1203 LARS2 Zornitza Stark Phenotypes for gene: LARS2 were changed from to Perrault syndrome 4; Hydrops, lactic acidosis, and sideroblastic anaemia, MIM# 617021; Leukodystrophy
Mitochondrial disease v0.1202 LARS2 Zornitza Stark Publications for gene: LARS2 were set to
Mitochondrial disease v0.1201 LARS2 Zornitza Stark Mode of inheritance for gene: LARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1200 ISCU Zornitza Stark Marked gene: ISCU as ready
Mitochondrial disease v0.1200 ISCU Zornitza Stark Gene: iscu has been classified as Green List (High Evidence).
Mitochondrial disease v0.1200 ISCU Zornitza Stark Phenotypes for gene: ISCU were changed from to Myopathy with lactic acidosis, hereditary, MIM# 255125
Mitochondrial disease v0.1199 ISCU Zornitza Stark Publications for gene: ISCU were set to
Mitochondrial disease v0.1198 ISCU Zornitza Stark Mode of inheritance for gene: ISCU was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.1197 IARS2 Zornitza Stark Marked gene: IARS2 as ready
Mitochondrial disease v0.1197 IARS2 Zornitza Stark Gene: iars2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1197 IARS2 Zornitza Stark Phenotypes for gene: IARS2 were changed from to Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, MIM# 616007
Mitochondrial disease v0.1196 IARS2 Zornitza Stark Publications for gene: IARS2 were set to
Mitochondrial disease v0.1195 IARS2 Zornitza Stark Mode of inheritance for gene: IARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1194 HSD17B10 Zornitza Stark Marked gene: HSD17B10 as ready
Mitochondrial disease v0.1194 HSD17B10 Zornitza Stark Gene: hsd17b10 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1194 HSD17B10 Zornitza Stark Phenotypes for gene: HSD17B10 were changed from to HSD10 mitochondrial disease, MIM# 300438
Mitochondrial disease v0.1193 HSD17B10 Zornitza Stark Mode of inheritance for gene: HSD17B10 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mitochondrial disease v0.1192 HSPD1 Zornitza Stark Marked gene: HSPD1 as ready
Mitochondrial disease v0.1192 HSPD1 Zornitza Stark Gene: hspd1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1192 HSPD1 Zornitza Stark Phenotypes for gene: HSPD1 were changed from to Leukodystrophy, hypomyelinating, 4, MIM# 612233; Spastic paraplegia 13, autosomal dominant, MIM# 605280
Mitochondrial disease v0.1191 HSPD1 Zornitza Stark Publications for gene: HSPD1 were set to
Mitochondrial disease v0.1190 HSPD1 Zornitza Stark Mode of inheritance for gene: HSPD1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.1189 HIBCH Zornitza Stark Marked gene: HIBCH as ready
Mitochondrial disease v0.1189 HIBCH Zornitza Stark Gene: hibch has been classified as Green List (High Evidence).
Mitochondrial disease v0.1189 HIBCH Zornitza Stark Phenotypes for gene: HIBCH were changed from to 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM# 250620
Mitochondrial disease v0.1188 HIBCH Zornitza Stark Publications for gene: HIBCH were set to 26026795; 25251209; 24299452; 32677093
Mitochondrial disease v0.1187 HIBCH Zornitza Stark Publications for gene: HIBCH were set to
Mitochondrial disease v0.1186 HIBCH Zornitza Stark Mode of inheritance for gene: HIBCH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1185 HCCS Zornitza Stark Marked gene: HCCS as ready
Mitochondrial disease v0.1185 HCCS Zornitza Stark Gene: hccs has been classified as Green List (High Evidence).
Mitochondrial disease v0.1185 HCCS Zornitza Stark Phenotypes for gene: HCCS were changed from to Linear skin defects with multiple congenital anomalies 1, MIM# 309801
Mitochondrial disease v0.1184 HCCS Zornitza Stark Publications for gene: HCCS were set to
Mitochondrial disease v0.1183 HCCS Zornitza Stark Mode of inheritance for gene: HCCS was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mitochondrial disease v0.1182 GLRX5 Zornitza Stark Marked gene: GLRX5 as ready
Mitochondrial disease v0.1182 GLRX5 Zornitza Stark Gene: glrx5 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1182 GLRX5 Zornitza Stark Phenotypes for gene: GLRX5 were changed from to Anaemia, sideroblastic, 3, pyridoxine-refractory, MIM# 616860
Mitochondrial disease v0.1181 GLRX5 Zornitza Stark Mode of inheritance for gene: GLRX5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1180 GFM1 Zornitza Stark Marked gene: GFM1 as ready
Mitochondrial disease v0.1180 GFM1 Zornitza Stark Gene: gfm1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1180 GFM1 Zornitza Stark Phenotypes for gene: GFM1 were changed from to Combined oxidative phosphorylation deficiency 1 MIM#609060
Mitochondrial disease v0.1179 GFM1 Zornitza Stark Publications for gene: GFM1 were set to
Mitochondrial disease v0.1178 GFM1 Zornitza Stark Mode of inheritance for gene: GFM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1177 FLAD1 Zornitza Stark Marked gene: FLAD1 as ready
Mitochondrial disease v0.1177 FLAD1 Zornitza Stark Gene: flad1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1177 FLAD1 Zornitza Stark Phenotypes for gene: FLAD1 were changed from to Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency MIM#255100
Mitochondrial disease v0.1176 FLAD1 Zornitza Stark Publications for gene: FLAD1 were set to
Mitochondrial disease v0.1175 FLAD1 Zornitza Stark Mode of inheritance for gene: FLAD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1174 ETHE1 Zornitza Stark Marked gene: ETHE1 as ready
Mitochondrial disease v0.1174 ETHE1 Zornitza Stark Gene: ethe1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1174 ETHE1 Zornitza Stark Phenotypes for gene: ETHE1 were changed from to Ethylmalonic encephalopathy , MIM#602473
Mitochondrial disease v0.1173 ETHE1 Zornitza Stark Publications for gene: ETHE1 were set to
Mitochondrial disease v0.1172 ETHE1 Zornitza Stark Mode of inheritance for gene: ETHE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1171 DNM1L Zornitza Stark Marked gene: DNM1L as ready
Mitochondrial disease v0.1171 DNM1L Zornitza Stark Gene: dnm1l has been classified as Green List (High Evidence).
Mitochondrial disease v0.1171 DNAJC19 Zornitza Stark Marked gene: DNAJC19 as ready
Mitochondrial disease v0.1171 DNAJC19 Zornitza Stark Gene: dnajc19 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1171 DNAJC19 Zornitza Stark Phenotypes for gene: DNAJC19 were changed from to 3-methylglutaconic aciduria, type V MIM#610198
Mitochondrial disease v0.1170 DNAJC19 Zornitza Stark Publications for gene: DNAJC19 were set to
Mitochondrial disease v0.1169 DNAJC19 Zornitza Stark Mode of inheritance for gene: DNAJC19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1168 DNA2 Zornitza Stark Marked gene: DNA2 as ready
Mitochondrial disease v0.1168 DNA2 Zornitza Stark Gene: dna2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1168 DNA2 Zornitza Stark Phenotypes for gene: DNA2 were changed from to Seckel syndrome 8, MIM#615807; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 MIM#615156
Mitochondrial disease v0.1167 DNA2 Zornitza Stark Mode of inheritance for gene: DNA2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.1166 DNA2 Zornitza Stark Mode of inheritance for gene: DNA2 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.1166 DNA2 Zornitza Stark Mode of inheritance for gene: DNA2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mitochondrial disease v0.1165 DNA2 Zornitza Stark Publications for gene: DNA2 were set to
Mitochondrial disease v0.1164 DLD Zornitza Stark Marked gene: DLD as ready
Mitochondrial disease v0.1164 DLD Zornitza Stark Gene: dld has been classified as Green List (High Evidence).
Mitochondrial disease v0.1164 DLD Zornitza Stark Phenotypes for gene: DLD were changed from to Dihydrolipoamide dehydrogenase deficiency MIM#246900
Mitochondrial disease v0.1163 DLD Zornitza Stark Publications for gene: DLD were set to
Mitochondrial disease v0.1162 DLD Zornitza Stark Mode of inheritance for gene: DLD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1161 DLAT Zornitza Stark Marked gene: DLAT as ready
Mitochondrial disease v0.1161 DLAT Zornitza Stark Gene: dlat has been classified as Green List (High Evidence).
Mitochondrial disease v0.1161 DLAT Zornitza Stark Phenotypes for gene: DLAT were changed from to Pyruvate dehydrogenase E2 deficiency MIM#245348
Mitochondrial disease v0.1160 DLAT Zornitza Stark Publications for gene: DLAT were set to
Mitochondrial disease v0.1159 DLAT Zornitza Stark Mode of inheritance for gene: DLAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1158 DGUOK Zornitza Stark Marked gene: DGUOK as ready
Mitochondrial disease v0.1158 DGUOK Zornitza Stark Gene: dguok has been classified as Green List (High Evidence).
Mitochondrial disease v0.1158 DARS2 Zornitza Stark Marked gene: DARS2 as ready
Mitochondrial disease v0.1158 DARS2 Zornitza Stark Gene: dars2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1158 DARS2 Zornitza Stark Phenotypes for gene: DARS2 were changed from to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM# 611105
Mitochondrial disease v0.1157 DARS2 Zornitza Stark Publications for gene: DARS2 were set to
Mitochondrial disease v0.1156 DARS2 Zornitza Stark Mode of inheritance for gene: DARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1155 CYC1 Zornitza Stark Marked gene: CYC1 as ready
Mitochondrial disease v0.1155 CYC1 Zornitza Stark Gene: cyc1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1155 CYC1 Zornitza Stark Phenotypes for gene: CYC1 were changed from to Mitochondrial complex III deficiency, nuclear type 6 MIM#615453
Mitochondrial disease v0.1154 CYC1 Zornitza Stark Publications for gene: CYC1 were set to
Mitochondrial disease v0.1153 CYC1 Zornitza Stark Mode of inheritance for gene: CYC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1152 COX7B Zornitza Stark Marked gene: COX7B as ready
Mitochondrial disease v0.1152 COX7B Zornitza Stark Gene: cox7b has been classified as Green List (High Evidence).
Mitochondrial disease v0.1152 COX7B Zornitza Stark Phenotypes for gene: COX7B were changed from to Linear skin defects with multiple congenital anomalies 2, MIM#300887
Mitochondrial disease v0.1151 COX7B Zornitza Stark Publications for gene: COX7B were set to
Mitochondrial disease v0.1150 COX7B Zornitza Stark Mode of inheritance for gene: COX7B was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mitochondrial disease v0.1149 COQ9 Zornitza Stark Marked gene: COQ9 as ready
Mitochondrial disease v0.1149 COQ9 Zornitza Stark Gene: coq9 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1149 COQ9 Zornitza Stark Phenotypes for gene: COQ9 were changed from to Coenzyme Q10 deficiency, primary, 5, MIM#614654
Mitochondrial disease v0.1148 COQ9 Zornitza Stark Publications for gene: COQ9 were set to
Mitochondrial disease v0.1147 COQ9 Zornitza Stark Mode of inheritance for gene: COQ9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1146 COQ8B Zornitza Stark Marked gene: COQ8B as ready
Mitochondrial disease v0.1146 COQ8B Zornitza Stark Gene: coq8b has been classified as Green List (High Evidence).
Mitochondrial disease v0.1146 COQ8B Zornitza Stark Phenotypes for gene: COQ8B were changed from to Nephrotic syndrome, type 9 MIM#615573
Mitochondrial disease v0.1145 COQ8B Zornitza Stark Publications for gene: COQ8B were set to
Mitochondrial disease v0.1144 COQ8B Zornitza Stark Mode of inheritance for gene: COQ8B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1143 COQ8A Zornitza Stark Marked gene: COQ8A as ready
Mitochondrial disease v0.1143 COQ8A Zornitza Stark Gene: coq8a has been classified as Green List (High Evidence).
Mitochondrial disease v0.1143 COQ8A Zornitza Stark Phenotypes for gene: COQ8A were changed from to Coenzyme Q10 deficiency, primary, 4 MIM#612016
Mitochondrial disease v0.1142 COQ8A Zornitza Stark Publications for gene: COQ8A were set to
Mitochondrial disease v0.1141 COQ8A Zornitza Stark Mode of inheritance for gene: COQ8A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1140 COQ6 Zornitza Stark Marked gene: COQ6 as ready
Mitochondrial disease v0.1140 COQ6 Zornitza Stark Gene: coq6 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1140 COQ6 Zornitza Stark Phenotypes for gene: COQ6 were changed from to Coenzyme Q10 deficiency, primary, 6 MIM#614650
Mitochondrial disease v0.1139 COQ6 Zornitza Stark Publications for gene: COQ6 were set to
Mitochondrial disease v0.1138 COQ6 Zornitza Stark Mode of inheritance for gene: COQ6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1137 CLPP Zornitza Stark Marked gene: CLPP as ready
Mitochondrial disease v0.1137 CLPP Zornitza Stark Gene: clpp has been classified as Green List (High Evidence).
Mitochondrial disease v0.1137 CLPP Zornitza Stark Phenotypes for gene: CLPP were changed from to Perrault syndrome 3, MIM# 614129
Mitochondrial disease v0.1136 CLPP Zornitza Stark Publications for gene: CLPP were set to
Mitochondrial disease v0.1135 CLPP Zornitza Stark Mode of inheritance for gene: CLPP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1134 BOLA3 Zornitza Stark Marked gene: BOLA3 as ready
Mitochondrial disease v0.1134 BOLA3 Zornitza Stark Gene: bola3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1134 BOLA3 Zornitza Stark Phenotypes for gene: BOLA3 were changed from to Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM# 614299
Mitochondrial disease v0.1133 BOLA3 Zornitza Stark Publications for gene: BOLA3 were set to
Mitochondrial disease v0.1132 BOLA3 Zornitza Stark Mode of inheritance for gene: BOLA3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1131 BCS1L Zornitza Stark Marked gene: BCS1L as ready
Mitochondrial disease v0.1131 BCS1L Zornitza Stark Gene: bcs1l has been classified as Green List (High Evidence).
Mitochondrial disease v0.1131 BCS1L Zornitza Stark Phenotypes for gene: BCS1L were changed from to Bjornstad syndrome, MIM# 262000; Leigh syndrome, MIM# 256000; BCS1L-related mitochondrial disease
Mitochondrial disease v0.1130 BCS1L Zornitza Stark Publications for gene: BCS1L were set to
Mitochondrial disease v0.1129 BCS1L Zornitza Stark Mode of inheritance for gene: BCS1L was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v1.486 Sarah Milton Copied Region ISCA-37404-Gain from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.486 ISCA-37404-Gain Sarah Milton Region: ISCA-37404-Gain was added
Region: ISCA-37404-Gain was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37404-Gain.
Mode of inheritance for Region: ISCA-37404-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37404-Gain were set to 24239951; 24075935
Phenotypes for Region: ISCA-37404-Gain were set to Chromosome 15q11q13 duplication syndrome; {Autism susceptibility 4} 608636; intellectual disability; seizures; ataxia
Autism v0.233 Sarah Milton Copied Region ISCA-37404-Gain from panel Common deletion and duplication syndromes
Autism v0.233 ISCA-37404-Gain Sarah Milton Region: ISCA-37404-Gain was added
Region: ISCA-37404-Gain was added to Autism. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37404-Gain.
Mode of inheritance for Region: ISCA-37404-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37404-Gain were set to 24239951; 24075935
Phenotypes for Region: ISCA-37404-Gain were set to Chromosome 15q11q13 duplication syndrome; {Autism susceptibility 4} 608636; intellectual disability; seizures; ataxia
Intellectual disability syndromic and non-syndromic v1.485 Sarah Milton Copied Region ISCA-37400-Loss from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.485 ISCA-37400-Loss Sarah Milton Region: ISCA-37400-Loss was added
Region: ISCA-37400-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37400-Loss.
Mode of inheritance for Region: ISCA-37400-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37400-Loss were set to Chromosome 16p11.2 deletion syndrome, proximal, MIM# 611913; autism; intellectual disability; seizures
Genetic Epilepsy v1.303 Sarah Milton Copied Region ISCA-37400-Loss from panel Common deletion and duplication syndromes
Genetic Epilepsy v1.303 ISCA-37400-Loss Sarah Milton Region: ISCA-37400-Loss was added
Region: ISCA-37400-Loss was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37400-Loss.
Mode of inheritance for Region: ISCA-37400-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37400-Loss were set to Chromosome 16p11.2 deletion syndrome, proximal, MIM# 611913; autism; intellectual disability; seizures
Autism v0.232 Sarah Milton Copied Region ISCA-37400-Loss from panel Common deletion and duplication syndromes
Autism v0.232 ISCA-37400-Loss Sarah Milton Region: ISCA-37400-Loss was added
Region: ISCA-37400-Loss was added to Autism. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37400-Loss.
Mode of inheritance for Region: ISCA-37400-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37400-Loss were set to Chromosome 16p11.2 deletion syndrome, proximal, MIM# 611913; autism; intellectual disability; seizures
Intellectual disability syndromic and non-syndromic v1.484 Sarah Milton Copied Region ISCA-37400-Gain from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.484 ISCA-37400-Gain Sarah Milton Region: ISCA-37400-Gain was added
Region: ISCA-37400-Gain was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37400-Gain.
Mode of inheritance for Region: ISCA-37400-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37400-Gain were set to 21841781; 18184952; 21731881
Phenotypes for Region: ISCA-37400-Gain were set to Chromosome 16p11.2 duplication syndrome, MIM# 614671; intellectual disability; autism
Intellectual disability syndromic and non-syndromic v1.484 Sarah Milton Copied Region ISCA-37397-Loss from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.484 ISCA-37397-Loss Sarah Milton Region: ISCA-37397-Loss was added
Region: ISCA-37397-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37397-Loss.
Mode of inheritance for Region: ISCA-37397-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37397-Loss were set to 21671380; 23765049; 18179902
Phenotypes for Region: ISCA-37397-Loss were set to Chromosome 22q11.2 deletion syndrome, distal, MIM#611867; intellectual disability; seizures; growth retardation; multiple congenital anomalies
Growth failure v1.86 Sarah Milton Copied Region ISCA-37397-Loss from panel Common deletion and duplication syndromes
Growth failure v1.86 ISCA-37397-Loss Sarah Milton Region: ISCA-37397-Loss was added
Region: ISCA-37397-Loss was added to Growth failure. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37397-Loss.
Mode of inheritance for Region: ISCA-37397-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37397-Loss were set to 21671380; 23765049; 18179902
Phenotypes for Region: ISCA-37397-Loss were set to Chromosome 22q11.2 deletion syndrome, distal, MIM#611867; intellectual disability; seizures; growth retardation; multiple congenital anomalies
Congenital Heart Defect v0.509 Sarah Milton Copied Region ISCA-37397-Loss from panel Common deletion and duplication syndromes
Congenital Heart Defect v0.509 ISCA-37397-Loss Sarah Milton Region: ISCA-37397-Loss was added
Region: ISCA-37397-Loss was added to Congenital Heart Defect. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37397-Loss.
Mode of inheritance for Region: ISCA-37397-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37397-Loss were set to 21671380; 23765049; 18179902
Phenotypes for Region: ISCA-37397-Loss were set to Chromosome 22q11.2 deletion syndrome, distal, MIM#611867; intellectual disability; seizures; growth retardation; multiple congenital anomalies
Intellectual disability syndromic and non-syndromic v1.483 Sarah Milton Copied Region ISCA-37397-Gain from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.483 ISCA-37397-Gain Sarah Milton Region: ISCA-37397-Gain was added
Region: ISCA-37397-Gain was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37397-Gain.
Mode of inheritance for Region: ISCA-37397-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37397-Gain were set to 21671380; 31479204
Phenotypes for Region: ISCA-37397-Gain were set to Chromosome 22q11.2 microduplication syndrome, MIM#608363, distal; intellectual disability; dysmorphic features; congenital anomalies
Microcephaly v1.374 Sarah Milton Copied Region ISCA-37396-Loss from panel Common deletion and duplication syndromes
Microcephaly v1.374 ISCA-37396-Loss Sarah Milton Region: ISCA-37396-Loss was added
Region: ISCA-37396-Loss was added to Microcephaly. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37396-Loss.
Mode of inheritance for Region: ISCA-37396-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37396-Loss were set to 22180641; 19557438; 19233321; 22359776
Phenotypes for Region: ISCA-37396-Loss were set to Chromosome 15q24 deletion syndrome, MIM#613406; intellectual disability; facial dysmorphisms; congenital malformations of the hands and feet, eye, and genitalia; joint laxity; and growth retardation and failure to thrive
Intellectual disability syndromic and non-syndromic v1.482 Sarah Milton Copied Region ISCA-37396-Loss from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.482 ISCA-37396-Loss Sarah Milton Region: ISCA-37396-Loss was added
Region: ISCA-37396-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37396-Loss.
Mode of inheritance for Region: ISCA-37396-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37396-Loss were set to 22180641; 19557438; 19233321; 22359776
Phenotypes for Region: ISCA-37396-Loss were set to Chromosome 15q24 deletion syndrome, MIM#613406; intellectual disability; facial dysmorphisms; congenital malformations of the hands and feet, eye, and genitalia; joint laxity; and growth retardation and failure to thrive
Intellectual disability syndromic and non-syndromic v1.481 Sarah Milton Copied Region ISCA-37394-Loss from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.481 ISCA-37394-Loss Sarah Milton Region: ISCA-37394-Loss was added
Region: ISCA-37394-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert Review
SV/CNV tags were added to Region: ISCA-37394-Loss.
Mode of inheritance for Region: ISCA-37394-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37394-Loss were set to 20691407
Phenotypes for Region: ISCA-37394-Loss were set to Chromosome 2q37 deletion syndrome, MIM# 600430; brachydactyly; intellectual disability
Hand and foot malformations v0.79 Sarah Milton Copied Region ISCA-37394-Loss from panel Common deletion and duplication syndromes
Hand and foot malformations v0.79 ISCA-37394-Loss Sarah Milton Region: ISCA-37394-Loss was added
Region: ISCA-37394-Loss was added to Hand and foot malformations. Sources: Expert Review Green,Expert Review
SV/CNV tags were added to Region: ISCA-37394-Loss.
Mode of inheritance for Region: ISCA-37394-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37394-Loss were set to 20691407
Phenotypes for Region: ISCA-37394-Loss were set to Chromosome 2q37 deletion syndrome, MIM# 600430; brachydactyly; intellectual disability
Intellectual disability syndromic and non-syndromic v1.480 Sarah Milton Copied Region ISCA-37393-Gain from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.480 ISCA-37393-Gain Sarah Milton Region: ISCA-37393-Gain was added
Region: ISCA-37393-Gain was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert Review
SV/CNV tags were added to Region: ISCA-37393-Gain.
Mode of inheritance for Region: ISCA-37393-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37393-Gain were set to Cat eye syndrome, MIM# 115470; coloboma; anal atresia; heart and renal malformations
Fetal anomalies v1.479 Sarah Milton Copied Region ISCA-37393-Gain from panel Common deletion and duplication syndromes
Fetal anomalies v1.479 ISCA-37393-Gain Sarah Milton Region: ISCA-37393-Gain was added
Region: ISCA-37393-Gain was added to Fetal anomalies. Sources: Expert Review Green,Expert Review
SV/CNV tags were added to Region: ISCA-37393-Gain.
Mode of inheritance for Region: ISCA-37393-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37393-Gain were set to Cat eye syndrome, MIM# 115470; coloboma; anal atresia; heart and renal malformations
Deafness_IsolatedAndComplex v1.300 Sarah Milton Copied Region ISCA-37393-Gain from panel Common deletion and duplication syndromes
Deafness_IsolatedAndComplex v1.300 ISCA-37393-Gain Sarah Milton Region: ISCA-37393-Gain was added
Region: ISCA-37393-Gain was added to Deafness_IsolatedAndComplex. Sources: Expert Review Green,Expert Review
SV/CNV tags were added to Region: ISCA-37393-Gain.
Mode of inheritance for Region: ISCA-37393-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37393-Gain were set to Cat eye syndrome, MIM# 115470; coloboma; anal atresia; heart and renal malformations
Congenital Heart Defect v0.508 Sarah Milton Copied Region ISCA-37393-Gain from panel Common deletion and duplication syndromes
Congenital Heart Defect v0.508 ISCA-37393-Gain Sarah Milton Region: ISCA-37393-Gain was added
Region: ISCA-37393-Gain was added to Congenital Heart Defect. Sources: Expert Review Green,Expert Review
SV/CNV tags were added to Region: ISCA-37393-Gain.
Mode of inheritance for Region: ISCA-37393-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37393-Gain were set to Cat eye syndrome, MIM# 115470; coloboma; anal atresia; heart and renal malformations
Clefting disorders v0.293 Sarah Milton Copied Region ISCA-37393-Gain from panel Common deletion and duplication syndromes
Clefting disorders v0.293 ISCA-37393-Gain Sarah Milton Region: ISCA-37393-Gain was added
Region: ISCA-37393-Gain was added to Clefting disorders. Sources: Expert Review Green,Expert Review
SV/CNV tags were added to Region: ISCA-37393-Gain.
Mode of inheritance for Region: ISCA-37393-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37393-Gain were set to Cat eye syndrome, MIM# 115470; coloboma; anal atresia; heart and renal malformations
Anophthalmia_Microphthalmia_Coloboma v1.53 Sarah Milton Copied Region ISCA-37393-Gain from panel Common deletion and duplication syndromes
Anophthalmia_Microphthalmia_Coloboma v1.53 ISCA-37393-Gain Sarah Milton Region: ISCA-37393-Gain was added
Region: ISCA-37393-Gain was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Expert Review Green,Expert Review
SV/CNV tags were added to Region: ISCA-37393-Gain.
Mode of inheritance for Region: ISCA-37393-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37393-Gain were set to Cat eye syndrome, MIM# 115470; coloboma; anal atresia; heart and renal malformations
Intellectual disability syndromic and non-syndromic v1.479 Sarah Milton Copied Region ISCA-37392-Loss from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.479 ISCA-37392-Loss Sarah Milton Region: ISCA-37392-Loss was added
Region: ISCA-37392-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert Review
SV/CNV tags were added to Region: ISCA-37392-Loss.
Mode of inheritance for Region: ISCA-37392-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37392-Loss were set to 20301427
Phenotypes for Region: ISCA-37392-Loss were set to Williams-Beuren syndrome, MIM# 194050; intellectual disability; growth retardation; cardiovascular disease
Growth failure v1.85 Sarah Milton Copied Region ISCA-37392-Loss from panel Common deletion and duplication syndromes
Growth failure v1.85 ISCA-37392-Loss Sarah Milton Region: ISCA-37392-Loss was added
Region: ISCA-37392-Loss was added to Growth failure. Sources: Expert Review Green,Expert Review
SV/CNV tags were added to Region: ISCA-37392-Loss.
Mode of inheritance for Region: ISCA-37392-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37392-Loss were set to 20301427
Phenotypes for Region: ISCA-37392-Loss were set to Williams-Beuren syndrome, MIM# 194050; intellectual disability; growth retardation; cardiovascular disease
Congenital Heart Defect v0.507 Sarah Milton Copied Region ISCA-37392-Loss from panel Common deletion and duplication syndromes
Congenital Heart Defect v0.507 ISCA-37392-Loss Sarah Milton Region: ISCA-37392-Loss was added
Region: ISCA-37392-Loss was added to Congenital Heart Defect. Sources: Expert Review Green,Expert Review
SV/CNV tags were added to Region: ISCA-37392-Loss.
Mode of inheritance for Region: ISCA-37392-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37392-Loss were set to 20301427
Phenotypes for Region: ISCA-37392-Loss were set to Williams-Beuren syndrome, MIM# 194050; intellectual disability; growth retardation; cardiovascular disease
Intellectual disability syndromic and non-syndromic v1.478 Sarah Milton Copied Region ISCA-37392-Gain from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.478 ISCA-37392-Gain Sarah Milton Region: ISCA-37392-Gain was added
Region: ISCA-37392-Gain was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert Review
SV/CNV tags were added to Region: ISCA-37392-Gain.
Mode of inheritance for Region: ISCA-37392-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37392-Gain were set to 33187326; 27615053; 26610320
Phenotypes for Region: ISCA-37392-Gain were set to Chromosome 7q11.23 duplication syndrome, MIM# 609757; intellectual disability; hypotonia; macrocephaly; seizures; aortic dilatation
Microcephaly v1.373 Sarah Milton Copied Region ISCA-37390-Loss from panel Common deletion and duplication syndromes
Microcephaly v1.373 ISCA-37390-Loss Sarah Milton Region: ISCA-37390-Loss was added
Region: ISCA-37390-Loss was added to Microcephaly. Sources: Expert Review Green,Expert Review
SV/CNV tags were added to Region: ISCA-37390-Loss.
Mode of inheritance for Region: ISCA-37390-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37390-Loss were set to 16953888
Phenotypes for Region: ISCA-37390-Loss were set to Cri-du-chat syndrome MIM#123450; intellectual disability; microcephaly
Intellectual disability syndromic and non-syndromic v1.478 Sarah Milton Copied Region ISCA-37390-Loss from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.478 ISCA-37390-Loss Sarah Milton Region: ISCA-37390-Loss was added
Region: ISCA-37390-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert Review
SV/CNV tags were added to Region: ISCA-37390-Loss.
Mode of inheritance for Region: ISCA-37390-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37390-Loss were set to 16953888
Phenotypes for Region: ISCA-37390-Loss were set to Cri-du-chat syndrome MIM#123450; intellectual disability; microcephaly
Mitochondrial disease v0.1128 VCP Zornitza Stark Marked gene: VCP as ready
Mitochondrial disease v0.1128 VCP Zornitza Stark Gene: vcp has been classified as Green List (High Evidence).
Mitochondrial disease v0.1128 VCP Zornitza Stark Publications for gene: VCP were set to 29884839; 35273561; 37678339
Mitochondrial disease v0.1127 VCP Zornitza Stark reviewed gene: VCP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mitochondrial disease v0.1127 Zornitza Stark Added reviews for gene VCP from panel Early-onset Dementia
Mitochondrial disease v0.1126 TMEM126A Zornitza Stark Marked gene: TMEM126A as ready
Mitochondrial disease v0.1126 TMEM126A Zornitza Stark Gene: tmem126a has been classified as Green List (High Evidence).
Mitochondrial disease v0.1126 TMEM126A Zornitza Stark Publications for gene: TMEM126A were set to 29884839; 33879611
Mitochondrial disease v0.1125 TMEM126A Zornitza Stark changed review comment from: Association with OA: More than 5 unrelated families reported, functional data. Only a single family reported with deafness in addition to OA.; to: Association with OA: More than 5 unrelated families reported, functional data. Only a single family reported with deafness in addition to OA.

TMEM126A is a Complex I assembly factor.
Mitochondrial disease v0.1125 Zornitza Stark Added reviews for gene TMEM126A from panel Mendeliome
Mitochondrial disease v0.1124 RMRP Zornitza Stark Marked gene: RMRP as ready
Mitochondrial disease v0.1124 RMRP Zornitza Stark Gene: rmrp has been classified as Green List (High Evidence).
Mitochondrial disease v0.1124 RMRP Zornitza Stark Publications for gene: RMRP were set to 29884839; 38337186
Mitochondrial disease v0.1123 RMRP Zornitza Stark changed review comment from: Over 60 pathogenic RMRP variants have been reported resulting in CHH phenotypes; multiple mouse models

Homozygous and Compound heterozygous (insertions, duplications and missense) variants have been reported resulting in loss of function.
*Founder variant g.70A>G (Amish and Finnish populations)

CHH individuals present with variable features that may include: shortened limbs, short stature, metaphysical dysplasia, fine, sparse and/or light-coloured hair, hematologic abnormalities and a spectrum of combined immunodeficiency.

Anauxetic dysplasia 1, MIM# 607095 is a more severe phenotype, whereas Metaphyseal dysplasia without hypotrichosis, MIM# 250460 is milder.
; to: Over 60 pathogenic RMRP variants have been reported resulting in CHH phenotypes; multiple mouse models

Homozygous and Compound heterozygous (insertions, duplications and missense) variants have been reported resulting in loss of function.
*Founder variant g.70A>G (Amish and Finnish populations)

CHH individuals present with variable features that may include: shortened limbs, short stature, metaphysical dysplasia, fine, sparse and/or light-coloured hair, hematologic abnormalities and a spectrum of combined immunodeficiency.

Anauxetic dysplasia 1, MIM# 607095 is a more severe phenotype, whereas Metaphyseal dysplasia without hypotrichosis, MIM# 250460 is milder.

Gene encodes RNA component of mitochondrial RNA processing endoribonuclease
Mitochondrial disease v0.1123 Zornitza Stark Added reviews for gene RMRP from panel Mendeliome
Mitochondrial disease v0.1122 PTRH2 Zornitza Stark Marked gene: PTRH2 as ready
Mitochondrial disease v0.1122 PTRH2 Zornitza Stark Gene: ptrh2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1122 PTRH2 Zornitza Stark Publications for gene: PTRH2 were set to 29884839; 37239392
Mitochondrial disease v0.1121 PTRH2 Zornitza Stark changed review comment from: Infantile-onset multisystem neurologic, endocrine, and pancreatic disease-1 (IMNEPD1) is an autosomal recessive multisystemic disorder with variable expressivity. The core features usually include global developmental delay with impaired intellectual development and speech delay, ataxia, sensorineural hearing loss, and pancreatic insufficiency. Additional features may include peripheral neuropathy, postnatal microcephaly, dysmorphic facial features, and cerebellar atrophy.

More than 5 unrelated families reported. The Q85P missense variant is reported in several families, likely founder effect.; to: Infantile-onset multisystem neurologic, endocrine, and pancreatic disease-1 (IMNEPD1) is an autosomal recessive multisystemic disorder with variable expressivity. The core features usually include global developmental delay with impaired intellectual development and speech delay, ataxia, sensorineural hearing loss, and pancreatic insufficiency. Additional features may include peripheral neuropathy, postnatal microcephaly, dysmorphic facial features, and cerebellar atrophy.

More than 5 unrelated families reported. The Q85P missense variant is reported in several families, likely founder effect.

Protein is involved in mitochondrial translation.
Mitochondrial disease v0.1121 Zornitza Stark Added reviews for gene PTRH2 from panel Mendeliome
Mitochondrial disease v0.1120 PRKN Zornitza Stark Marked gene: PRKN as ready
Mitochondrial disease v0.1120 PRKN Zornitza Stark Gene: prkn has been classified as Green List (High Evidence).
Mitochondrial disease v0.1120 PRKN Zornitza Stark changed review comment from: Parkin regulates the clearance of dysfunctional mitochondria.; to: Well established gene-disease association.

Parkin regulates the clearance of dysfunctional mitochondria.
Mitochondrial disease v0.1120 PRKN Zornitza Stark edited their review of gene: PRKN: Changed publications: 20837857
Mitochondrial disease v0.1120 PRKN Zornitza Stark edited their review of gene: PRKN: Changed phenotypes: Parkinson disease, juvenile, type 2, MIM# 600116; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1120 PRKN Zornitza Stark reviewed gene: PRKN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mitochondrial disease v0.1120 PAM16 Zornitza Stark Marked gene: PAM16 as ready
Mitochondrial disease v0.1120 PAM16 Zornitza Stark Gene: pam16 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1120 PAM16 Zornitza Stark Publications for gene: PAM16 were set to 29884839; 24786642; 35385740; 36438081
Mitochondrial disease v0.1119 PAM16 Zornitza Stark reviewed gene: PAM16: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1119 Zornitza Stark Added reviews for gene PAM16 from panel Mendeliome
Mitochondrial disease v0.1118 GPD1 Zornitza Stark edited their review of gene: GPD1: Changed phenotypes: Hypertriglyceridemia, transient infantile MIM#614480
Mitochondrial disease v0.1118 GPD1 Zornitza Stark Marked gene: GPD1 as ready
Mitochondrial disease v0.1118 GPD1 Zornitza Stark Gene: gpd1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1118 GPD1 Zornitza Stark changed review comment from: GPD1 is a cytosolic enzyme that works with the mitochondrial GPD2 enzyme to form the glycerol 3-phosphate shuttle, which transports reducing equivalents (NADH) into the mitochondria.; to: GPD1 is a cytosolic enzyme that works with the mitochondrial GPD2 enzyme to form the glycerol 3-phosphate shuttle, which transports reducing equivalents (NADH) into the mitochondria.

Bi-allelic variants cause transient infantile hypertriglyceridemia which is characterized by onset of moderate to severe transient hypertriglyceridemia in infancy that normalizes with age. The hypertriglyceridemia is associated with hepatomegaly, moderately elevated transaminases, persistent fatty liver, and the development of hepatic fibrosis.

More than 5 unrelated families reported.
Mitochondrial disease v0.1118 GPD1 Zornitza Stark edited their review of gene: GPD1: Changed publications: 22226083, 24549054, 35365473, 34484308, 33447932
Mitochondrial disease v0.1118 GPD1 Zornitza Stark reviewed gene: GPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1118 L2HGDH Zornitza Stark Marked gene: L2HGDH as ready
Mitochondrial disease v0.1118 L2HGDH Zornitza Stark Gene: l2hgdh has been classified as Green List (High Evidence).
Mitochondrial disease v0.1118 L2HGDH Zornitza Stark Phenotypes for gene: L2HGDH were changed from Disorders of mitochondrial metabolite repair; L-2-hydroxyglutaric aciduria MONDO:0009370 to L-2-hydroxyglutaric aciduria, MIM#236792
Mitochondrial disease v0.1117 L2HGDH Zornitza Stark Publications for gene: L2HGDH were set to 29884839; 37995940
Mitochondrial disease v0.1116 L2HGDH Zornitza Stark edited their review of gene: L2HGDH: Changed phenotypes: L-2-hydroxyglutaric aciduria, MIM#236792
Mitochondrial disease v0.1116 L2HGDH Zornitza Stark reviewed gene: L2HGDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 37113859, 34270333, 17475916, 28137912, 15385440; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1116 HSPA9 Zornitza Stark Marked gene: HSPA9 as ready
Mitochondrial disease v0.1116 HSPA9 Zornitza Stark Gene: hspa9 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1116 HSPA9 Zornitza Stark Phenotypes for gene: HSPA9 were changed from even-plus syndrome MONDO:0014801; Disorders of mitochondrial protein quality control to Anaemia, sideroblastic, 4, MIM# 182170; Even-plus syndrome, MIM# 616854
Mitochondrial disease v0.1115 HSPA9 Zornitza Stark Publications for gene: HSPA9 were set to 29884839; 21123823; 26598328
Mitochondrial disease v0.1114 HSPA9 Zornitza Stark Mode of inheritance for gene: HSPA9 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.1113 HSPA9 Zornitza Stark changed review comment from: HSPA9 is a mitochondrial chaperone. Well established association with sideroblastic anaemia and Even-plus syndrome which is characterised by prenatal-onset short stature, vertebral and epiphyseal changes, microtia, midface hypoplasia with flat nose and triangular nares, cardiac malformations, and other findings including anal atresia, hypodontia, and aplasia cutis.; to: HSPA9 is a mitochondrial chaperone. Established association between mono-allelic variants and sideroblastic anaemia and between biallelic variants and Even-plus syndrome. The latter is characterised by prenatal-onset short stature, vertebral and epiphyseal changes, microtia, midface hypoplasia with flat nose and triangular nares, cardiac malformations, and other findings including anal atresia, hypodontia, and aplasia cutis.
Mitochondrial disease v0.1113 HSPA9 Zornitza Stark edited their review of gene: HSPA9: Changed publications: 26491070, 39196378, 36094340, 38284453, 38281662, 35779070
Mendeliome v1.3741 HSPA9 Zornitza Stark edited their review of gene: HSPA9: Added comment: PMID 39196378: another three individuals reported albeit with little supportive data.; Changed rating: GREEN; Changed publications: 26491070, 39196378
Mitochondrial disease v0.1113 HSPA9 Zornitza Stark reviewed gene: HSPA9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Anaemia, sideroblastic, 4, MIM# 182170, Even-plus syndrome, MIM# 616854; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.1113 AIFM1 Zornitza Stark Marked gene: AIFM1 as ready
Mitochondrial disease v0.1113 AIFM1 Zornitza Stark Gene: aifm1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1113 AIFM1 Zornitza Stark Phenotypes for gene: AIFM1 were changed from to Combined oxidative phosphorylation deficiency 6, 300816; Cowchock syndrome, 310490; Deafness, X-linked 5, 300614; Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, 300232
Mitochondrial disease v0.1112 AIFM1 Zornitza Stark Mode of inheritance for gene: AIFM1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cardiomyopathy_Paediatric v0.208 Zornitza Stark Added reviews for gene AGK from panel Mitochondrial disease
Mitochondrial disease v0.1111 AGK Zornitza Stark Marked gene: AGK as ready
Mitochondrial disease v0.1111 AGK Zornitza Stark Gene: agk has been classified as Green List (High Evidence).
Mitochondrial disease v0.1111 AGK Zornitza Stark Phenotypes for gene: AGK were changed from Sengers syndrome, MIM#212350 to Sengers syndrome, MIM#212350; Cataract 38 MIM#614691
Mitochondrial disease v0.1110 AGK Zornitza Stark Publications for gene: AGK were set to 22415731; 25208612; 22415731; 25208612
Mitochondrial disease v0.1109 AGK Zornitza Stark reviewed gene: AGK: Rating: GREEN; Mode of pathogenicity: None; Publications: 37354892; Phenotypes: Sengers syndrome, MIM#212350, Cataract 38 MIM#614691; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Stroke v1.36 MT-ND4 Zornitza Stark Marked gene: MT-ND4 as ready
Stroke v1.36 MT-ND4 Zornitza Stark Gene: mt-nd4 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v1.43 MT-ND4 Zornitza Stark Marked gene: MT-ND4 as ready
Hereditary Neuropathy - complex v1.43 MT-ND4 Zornitza Stark Gene: mt-nd4 has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.334 MT-ND4 Zornitza Stark Marked gene: MT-ND4 as ready
Leukodystrophy - paediatric v0.334 MT-ND4 Zornitza Stark Gene: mt-nd4 has been classified as Green List (High Evidence).
Ataxia v1.153 MT-ND4 Zornitza Stark Marked gene: MT-ND4 as ready
Ataxia v1.153 MT-ND4 Zornitza Stark Gene: mt-nd4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.477 MT-ND4 Zornitza Stark Marked gene: MT-ND4 as ready
Intellectual disability syndromic and non-syndromic v1.477 MT-ND4 Zornitza Stark Gene: mt-nd4 has been classified as Green List (High Evidence).
Regression v0.600 MT-ND4 Zornitza Stark Marked gene: MT-ND4 as ready
Regression v0.600 MT-ND4 Zornitza Stark Gene: mt-nd4 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.302 MT-ND4 Zornitza Stark Marked gene: MT-ND4 as ready
Genetic Epilepsy v1.302 MT-ND4 Zornitza Stark Gene: mt-nd4 has been classified as Green List (High Evidence).
Optic Atrophy v1.59 MT-ND4 Zornitza Stark Marked gene: MT-ND4 as ready
Optic Atrophy v1.59 MT-ND4 Zornitza Stark Gene: mt-nd4 has been classified as Green List (High Evidence).
Stroke v1.36 Zornitza Stark Copied gene MT-ND4 from panel Mitochondrial disease
Stroke v1.36 MT-ND4 Zornitza Stark gene: MT-ND4 was added
gene: MT-ND4 was added to Stroke. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-ND4.
Mode of inheritance for gene gene: MT-ND4 was set to MITOCHONDRIAL
Publications for gene: MT-ND4 were set to 12707444; 16120329; 15576045; 20502985; 27761019; 32445240; 32659360; 3201231
Phenotypes for gene: MT-ND4 were set to Mitochondrial disease (MONDO:0044970), MT-ND4-related
Regression v0.600 Zornitza Stark Copied gene MT-ND4 from panel Mitochondrial disease
Regression v0.600 MT-ND4 Zornitza Stark gene: MT-ND4 was added
gene: MT-ND4 was added to Regression. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-ND4.
Mode of inheritance for gene gene: MT-ND4 was set to MITOCHONDRIAL
Publications for gene: MT-ND4 were set to 12707444; 16120329; 15576045; 20502985; 27761019; 32445240; 32659360; 3201231
Phenotypes for gene: MT-ND4 were set to Mitochondrial disease (MONDO:0044970), MT-ND4-related
Optic Atrophy v1.59 Zornitza Stark Copied gene MT-ND4 from panel Mitochondrial disease
Optic Atrophy v1.59 MT-ND4 Zornitza Stark gene: MT-ND4 was added
gene: MT-ND4 was added to Optic Atrophy. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-ND4.
Mode of inheritance for gene gene: MT-ND4 was set to MITOCHONDRIAL
Publications for gene: MT-ND4 were set to 12707444; 16120329; 15576045; 20502985; 27761019; 32445240; 32659360; 3201231
Phenotypes for gene: MT-ND4 were set to Mitochondrial disease (MONDO:0044970), MT-ND4-related
Leukodystrophy - paediatric v0.334 Zornitza Stark Copied gene MT-ND4 from panel Mitochondrial disease
Leukodystrophy - paediatric v0.334 MT-ND4 Zornitza Stark gene: MT-ND4 was added
gene: MT-ND4 was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-ND4.
Mode of inheritance for gene gene: MT-ND4 was set to MITOCHONDRIAL
Publications for gene: MT-ND4 were set to 12707444; 16120329; 15576045; 20502985; 27761019; 32445240; 32659360; 3201231
Phenotypes for gene: MT-ND4 were set to Mitochondrial disease (MONDO:0044970), MT-ND4-related
Intellectual disability syndromic and non-syndromic v1.477 Zornitza Stark Copied gene MT-ND4 from panel Mitochondrial disease
Intellectual disability syndromic and non-syndromic v1.477 MT-ND4 Zornitza Stark gene: MT-ND4 was added
gene: MT-ND4 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-ND4.
Mode of inheritance for gene gene: MT-ND4 was set to MITOCHONDRIAL
Publications for gene: MT-ND4 were set to 12707444; 16120329; 15576045; 20502985; 27761019; 32445240; 32659360; 3201231
Phenotypes for gene: MT-ND4 were set to Mitochondrial disease (MONDO:0044970), MT-ND4-related
Hereditary Neuropathy - complex v1.43 Zornitza Stark Copied gene MT-ND4 from panel Mitochondrial disease
Hereditary Neuropathy - complex v1.43 MT-ND4 Zornitza Stark gene: MT-ND4 was added
gene: MT-ND4 was added to Hereditary Neuropathy - complex. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-ND4.
Mode of inheritance for gene gene: MT-ND4 was set to MITOCHONDRIAL
Publications for gene: MT-ND4 were set to 12707444; 16120329; 15576045; 20502985; 27761019; 32445240; 32659360; 3201231
Phenotypes for gene: MT-ND4 were set to Mitochondrial disease (MONDO:0044970), MT-ND4-related
Genetic Epilepsy v1.302 Zornitza Stark Copied gene MT-ND4 from panel Mitochondrial disease
Genetic Epilepsy v1.302 MT-ND4 Zornitza Stark gene: MT-ND4 was added
gene: MT-ND4 was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-ND4.
Mode of inheritance for gene gene: MT-ND4 was set to MITOCHONDRIAL
Publications for gene: MT-ND4 were set to 12707444; 16120329; 15576045; 20502985; 27761019; 32445240; 32659360; 3201231
Phenotypes for gene: MT-ND4 were set to Mitochondrial disease (MONDO:0044970), MT-ND4-related
Ataxia v1.153 Zornitza Stark Copied gene MT-ND4 from panel Mitochondrial disease
Ataxia v1.153 MT-ND4 Zornitza Stark gene: MT-ND4 was added
gene: MT-ND4 was added to Ataxia. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-ND4.
Mode of inheritance for gene gene: MT-ND4 was set to MITOCHONDRIAL
Publications for gene: MT-ND4 were set to 12707444; 16120329; 15576045; 20502985; 27761019; 32445240; 32659360; 3201231
Phenotypes for gene: MT-ND4 were set to Mitochondrial disease (MONDO:0044970), MT-ND4-related
Mendeliome v1.3741 FGD5 Zornitza Stark Marked gene: FGD5 as ready
Mendeliome v1.3741 FGD5 Zornitza Stark Gene: fgd5 has been classified as Red List (Low Evidence).
Congenital Heart Defect v0.506 FGD5 Zornitza Stark Marked gene: FGD5 as ready
Congenital Heart Defect v0.506 FGD5 Zornitza Stark Gene: fgd5 has been classified as Red List (Low Evidence).
Genomic newborn screening: ICoNS v0.27 CYP21A2 Thomas Minten changed review comment from: On RUSP website CYP21A2 specifically mentioned as causative gene
ClinGen: haploinsufficiency score of 30, high level of evidence
Prevalence SW-CAH and SV-CAH: 1:11,000-1:14,000
Disease pathway: enzyme 21-hydroxylase produces cortisol and aldosterone -> important for hormone balance
Presentation in neonatal onset, childhood: poor feeding, vomiting, weight loss or failure to thrive, excessive sleepiness or lethargy, irritability, and diarrhea. In females, ambiguous genitalia
Treatment: Lifelong glucocorticoid replacement therapy (such as hydrocortisone)

Inheritance: biallelic (recessive), autosomal or pseudoautosomal
Current screening method for CAH:
First tier: 17‑hydroxyprogesterone (17‑OHP)
Second tier: steroid profiling/CYP21A2 genotyping

Included (in 2024) in 16/27 gNBS programs, ranks 130 out of 4390
Included in BabyDetect, BabyScreen+,Generation, Beginnings, Puglia, Screen4Care, Nurture,…
Not in Guardian, EarlyCheck Chen et al and several commercial panels

Problem: Standard WGS methodologies face challenges in accurately detecting CYP21A2 variants because of this homology and population complexity. Therefore, by most programs is only used in conjunction with 17-OHP levels.
Sources: Other; to: Gene causes adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
ClinGen: haploinsufficiency score of 30, high level of evidence
Prevalence SW-CAH and SV-CAH: 1:11,000-1:14,000
Disease pathway: gene important for production of enzyme 21-hydroxylase, which in turn produces cortisol and aldosterone which is important for hormone balance
Presentation in neonatal onset, childhood: poor feeding, vomiting, weight loss or failure to thrive, excessive sleepiness or lethargy, irritability, and diarrhea. In females, ambiguous genitalia.
Treatment: Lifelong glucocorticoid replacement therapy (such as hydrocortisone)
Inheritance: biallelic (recessive), autosomal or pseudoautosomal

Current biochemical screening method for CAH is performed in most countries:
First tier: 17‑hydroxyprogesterone (17‑OHP)
Second tier: steroid profiling/CYP21A2 genotyping

High genotype phenotype correlation as discussed in PMID 23359698

Included (in 2024) in 16/27 gNBS programs, ranks 130 out of 4390
Included in BabyDetect, BabyScreen+,Generation, Beginnings, Puglia, Screen4Care, Nurture,…
Not in Guardian, EarlyCheck, Chen et al. and several commercial panels

Problem: Standard WGS methodologies face challenges in accurately detecting CYP21A2 variants because of homology and population complexity. Therefore, by most gNBS programs the results in this gene are only used in conjunction with 17-OHP levels.
Sources: Other
Genomic newborn screening: ICoNS v0.27 CYP21A2 Thomas Minten gene: CYP21A2 was added
gene: CYP21A2 was added to Genomic newborn screening: ICoNS. Sources: Other
Mode of inheritance for gene: CYP21A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP21A2 were set to CYP21A2 Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
Mode of pathogenicity for gene: CYP21A2 was set to Other
Review for gene: CYP21A2 was set to GREEN
Added comment: On RUSP website CYP21A2 specifically mentioned as causative gene
ClinGen: haploinsufficiency score of 30, high level of evidence
Prevalence SW-CAH and SV-CAH: 1:11,000-1:14,000
Disease pathway: enzyme 21-hydroxylase produces cortisol and aldosterone -> important for hormone balance
Presentation in neonatal onset, childhood: poor feeding, vomiting, weight loss or failure to thrive, excessive sleepiness or lethargy, irritability, and diarrhea. In females, ambiguous genitalia
Treatment: Lifelong glucocorticoid replacement therapy (such as hydrocortisone)

Inheritance: biallelic (recessive), autosomal or pseudoautosomal
Current screening method for CAH:
First tier: 17‑hydroxyprogesterone (17‑OHP)
Second tier: steroid profiling/CYP21A2 genotyping

Included (in 2024) in 16/27 gNBS programs, ranks 130 out of 4390
Included in BabyDetect, BabyScreen+,Generation, Beginnings, Puglia, Screen4Care, Nurture,…
Not in Guardian, EarlyCheck Chen et al and several commercial panels

Problem: Standard WGS methodologies face challenges in accurately detecting CYP21A2 variants because of this homology and population complexity. Therefore, by most programs is only used in conjunction with 17-OHP levels.
Sources: Other
Genomic newborn screening: ICoNS v0.27 LHX3 Zornitza Stark Marked gene: LHX3 as ready
Genomic newborn screening: ICoNS v0.27 LHX3 Zornitza Stark Gene: lhx3 has been classified as Green List (High Evidence).
Genomic newborn screening: ICoNS v0.27 LHX3 Zornitza Stark Phenotypes for gene: LHX3 were changed from to Pituitary hormone deficiency, combined, 3 (MIM#221750)
Genomic newborn screening: ICoNS v0.26 LHX3 Zornitza Stark Classified gene: LHX3 as Green List (high evidence)
Genomic newborn screening: ICoNS v0.26 LHX3 Zornitza Stark Gene: lhx3 has been classified as Green List (High Evidence).
Genomic newborn screening: ICoNS v0.25 LHX3 Zornitza Stark reviewed gene: LHX3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Genomic newborn screening: ICoNS v0.25 GALK1 Zornitza Stark Marked gene: GALK1 as ready
Genomic newborn screening: ICoNS v0.25 GALK1 Zornitza Stark Gene: galk1 has been classified as Green List (High Evidence).
Genomic newborn screening: ICoNS v0.25 GALK1 Zornitza Stark Phenotypes for gene: GALK1 were changed from very early-onset cataract to Galactokinase deficiency with cataracts MIM#230200
Genomic newborn screening: ICoNS v0.24 GALK1 Zornitza Stark Publications for gene: GALK1 were set to
Genomic newborn screening: ICoNS v0.23 GALK1 Zornitza Stark Classified gene: GALK1 as Green List (high evidence)
Genomic newborn screening: ICoNS v0.23 GALK1 Zornitza Stark Gene: galk1 has been classified as Green List (High Evidence).
Genomic newborn screening: ICoNS v0.22 GALK1 Zornitza Stark reviewed gene: GALK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Genomic newborn screening: ICoNS v0.22 F9 Zornitza Stark Marked gene: F9 as ready
Genomic newborn screening: ICoNS v0.22 F9 Zornitza Stark Gene: f9 has been classified as Green List (High Evidence).
Genomic newborn screening: ICoNS v0.22 F9 Zornitza Stark Phenotypes for gene: F9 were changed from Hemophilia B to Haemophilia B, MIM# 306900
Genomic newborn screening: ICoNS v0.21 F9 Zornitza Stark Publications for gene: F9 were set to
Genomic newborn screening: ICoNS v0.20 F9 Zornitza Stark Classified gene: F9 as Green List (high evidence)
Genomic newborn screening: ICoNS v0.20 F9 Zornitza Stark Gene: f9 has been classified as Green List (High Evidence).
Genomic newborn screening: ICoNS v0.19 MYH7 Zornitza Stark Marked gene: MYH7 as ready
Genomic newborn screening: ICoNS v0.19 MYH7 Zornitza Stark Gene: myh7 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: ICoNS v0.19 MYH7 Zornitza Stark Mode of inheritance for gene: MYH7 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: ICoNS v0.18 MYH7 Zornitza Stark Mode of inheritance for gene: MYH7 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: ICoNS v0.17 MYH7 Zornitza Stark Classified gene: MYH7 as Amber List (moderate evidence)
Genomic newborn screening: ICoNS v0.17 MYH7 Zornitza Stark Gene: myh7 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: ICoNS v0.16 MYH7 Zornitza Stark reviewed gene: MYH7: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Genomic newborn screening: ICoNS v0.16 F9 Zornitza Stark reviewed gene: F9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Genomic newborn screening: ICoNS v0.16 GALK1 François BOEMER changed review comment from: Development of cataracts is fully preventable if diagnosis is made early and a galactose-restricted diet is implemented and strictly followed.
Disorder is included in the RUSP as a secondary condition. NBS could be performed by gNBS, or by quantifying total Galactose on DBS. Urinary galactitol is elevated in a majority of neonate patients.
GALK1 is curated by ClinGen. Only SNPs variants are described in Clinvar, mainly in the coding or intronic-boundaries regions
; to: Development of cataracts is fully preventable if diagnosis is made early and a galactose-restricted diet is implemented and strictly followed.
Disorder is included in the RUSP as a secondary condition. NBS could be performed by gNBS, or by quantifying total Galactose on DBS. Urinary galactitol is elevated in a majority of neonate patients.
GALK1 is curated by ClinGen. Only SNPs variants (> 500) are described in Clinvar, mainly in the coding or intronic-boundaries regions
Genomic newborn screening: ICoNS v0.16 F9 Jorune Balciuniene changed review comment from: Well established gene-disease association.
Mechanism: hemizygous loss of function variants in males, but heterozygous females may present with mild clinical symptoms due to nonrandom X-inactivation.
Incidence: 1 per 25-30K males births with >40 % having severe disease.
Clinical disease types:
Severe hemophilia B: < 1% normal FIX level. Usually diagnosed during the first two years of life. Characterized by spontaneous bleedings if not treated.
Moderate hemophilia B: 1-5% normal FIX levels. Prolonged bleeding after trauma, diagnosed before the age of 5.
Mild hemophilia B: 5- 40% normal FIX levels. Typically, no spontaneous bleedings, not diagnosed until later in life.
Pathogenic variants:
>1300 pathogenic variants, mostly point mutations, but also partial and full gene deletions.
Medical management informing pathogenic variants
• Complete gene deletions or major rearrangements are associated with severe anaphylactic reactions upon FIX replacement therapy. High risk for developing FIX inhibitors (> 50 %).
• Point mutations in promoter region (5'UTR) associated with Hemophilia B Leyden, characterized by developmental expression of FIX post puberty. At childhood, FIX levels are <1%, and increase with growth reaching up to 70% of normal levels. Anabolic steroids can help raise FIX levels.
• Missense variants in the FIX propeptide sequence causing reduced affinity to vitamin- dependent carboxylase. These individuals have normal levels of FIX, but develop unexpected reduction of FIX upon administration of vitamin K antagonists (e.g. warfarin)
Treatment:
• Factor replacement therapy: Prophylaxis and early treatment
• Non-factor therapies: available for patients >12 y of age.
• Adeno-associated virus gene therapy: for adult males with <2% of FIX levels
• Surveillance and Supportive care

PMIDs: 16643212, 25851415, 3286010, 3416069, 35269902
https://www.cdc.gov/hemophilia/mutation-project/index.html; to: Well established gene-disease association.
Mechanism: hemizygous loss of function variants in males, but heterozygous females may present with mild clinical symptoms due to nonrandom X-inactivation.
Incidence: 1 per 25-30K males births with >40 % having severe disease.
Clinical disease types:
Severe hemophilia B: < 1% normal FIX level. Usually diagnosed during the first two years of life. Characterized by spontaneous bleedings if not treated.
Moderate hemophilia B: 1-5% normal FIX levels. Prolonged bleeding after trauma, diagnosed before the age of 5.
Mild hemophilia B: 5- 40% normal FIX levels. Typically, no spontaneous bleedings, not diagnosed until later in life.
Pathogenic variants:
>1300 pathogenic variants, mostly point mutations, but also partial and full gene deletions.
Medical management informing pathogenic variants
• Complete gene deletions or major rearrangements are associated with severe anaphylactic reactions upon FIX replacement therapy. High risk for developing FIX inhibitors (> 50 %).
• Point mutations in promoter region (5'UTR) associated with Hemophilia B Leyden, characterized by developmental expression of FIX post puberty. At childhood, FIX levels are <1%, and increase with growth reaching up to 70% of normal levels. Anabolic steroids can help raise FIX levels.
• Missense variants in the FIX propeptide sequence causing reduced affinity to vitamin-K dependent carboxylase. These individuals have normal levels of FIX, but develop unexpected reduction of FIX upon administration of vitamin K antagonists (e.g. warfarin)
Treatment:
• Factor replacement therapy: Prophylaxis and early treatment
• Non-factor therapies: available for patients >12 y of age.
• Adeno-associated virus gene therapy: for adult males with <2% of FIX levels
• Surveillance and Supportive care

PMIDs: 16643212, 25851415, 3286010, 3416069, 35269902
https://www.cdc.gov/hemophilia/mutation-project/index.html
Genomic newborn screening: ICoNS v0.16 LHX3 José Manuel González de Aledo Castillo gene: LHX3 was added
gene: LHX3 was added to Genomic newborn screening: ICoNS. Sources: Literature
Mode of inheritance for gene: LHX3 was set to BIALLELIC, autosomal or pseudoautosomal
Added comment: LHX3 – Well-established gene–disease association

Not yet scored by ClinGen, definitive in GenCC for non-acquired Combined Pituitary Hormone Deficiency type 3 (CPHD3).

AR CPHD3 is characterized by multiple anterior pituitary hormone deficiencies, including growth hormone, TSH, LH/FSH, prolactin, and variably ACTH. Affected individuals often have restricted neck mobility due to cervical spine anomalies and sensorineural hearing loss. CPHD3 can be severe and potentially life-threatening in infancy, due to recurrent hypoglycemia, prolonged jaundice, and metabolic instability.

Typical presentation is from the newborn period through early infancy, though some patients are diagnosed later in childhood due to growth failure or pubertal delay.

The vast majority of clinically confirmed CPHD3 cases carry biallelic pathogenic variants in LHX3, primarily loss-of-function or homeodomain-disrupting missense variants. Recurrent pathogenic variants such as T194R, W224Ter, C74 and V205L have been reported.

Treatment: Lifelong hormone replacement tailored to specific deficiencies (levothyroxine, growth hormone, hydrocortisone when needed, and sex steroids during adolescence). Management also includes audiologic support and evaluation of cervical spine stability.

Non-genetic confirmatory tests available: Pituitary hormone profile (GH, TSH, PRL, LH/FSH, with surveillance for evolving ACTH deficiency), pituitary MRI showing anterior pituitary hypoplasia, audiology testing, and cervical spine imaging.

Conventional newborn screening: indirect through CH screening (universal)

Genomic newborn screening: included in BabyScreen+, Babyseq, BeginNGS, FirstSteps, Generation Study, NewbornsinSA, Puglia.
Sources: Literature
Pituitary hormone deficiency v0.102 TBC1D32 Chirag Patel Publications for gene: TBC1D32 were set to 32573025; 32060556
Pituitary hormone deficiency v0.101 TBC1D32 Chirag Patel reviewed gene: TBC1D32: Rating: GREEN; Mode of pathogenicity: None; Publications: 24285566, 32573025, 32060556, 31130284, 36826837, 40319332; Phenotypes: Orofacial digital syndrome type IX, MIM#258865; Mode of inheritance: None
Pituitary hormone deficiency v0.101 Chirag Patel Added reviews for gene TBC1D32 from panel Intellectual disability syndromic and non-syndromic
Mendeliome v1.3741 Chirag Patel Added reviews for gene ARNT2 from panel Mendeliome
Pituitary hormone deficiency v0.100 Chirag Patel Added reviews for gene ARNT2 from panel Mendeliome
Pituitary hormone deficiency v0.99 ARNT2 Chirag Patel Publications for gene: ARNT2 were set to 24022475
Pituitary hormone deficiency v0.98 ARNT2 Chirag Patel Phenotypes for gene: ARNT2 were changed from ?Webb-Dattani syndrome (615926) to Webb-Dattani syndrome 615926
Pituitary hormone deficiency v0.97 ARNT2 Chirag Patel Classified gene: ARNT2 as Amber List (moderate evidence)
Pituitary hormone deficiency v0.97 ARNT2 Chirag Patel Gene: arnt2 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.96 Chirag Patel Added reviews for gene ARNT2 from panel Intellectual disability syndromic and non-syndromic
Pituitary hormone deficiency v0.95 Chirag Patel Added reviews for gene TBC1D32 from panel Intellectual disability syndromic and non-syndromic
Pituitary hormone deficiency v0.94 TBC1D32 Chirag Patel Classified gene: TBC1D32 as Green List (high evidence)
Pituitary hormone deficiency v0.94 TBC1D32 Chirag Patel Gene: tbc1d32 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.93 Chirag Patel Added reviews for gene TBC1D32 from panel Intellectual disability syndromic and non-syndromic
Fetal anomalies v1.478 ESRP2 Chirag Patel Classified gene: ESRP2 as Amber List (moderate evidence)
Fetal anomalies v1.478 ESRP2 Chirag Patel Gene: esrp2 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3740 ESRP2 Chirag Patel Classified gene: ESRP2 as Amber List (moderate evidence)
Mendeliome v1.3740 ESRP2 Chirag Patel Gene: esrp2 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3740 ESRP2 Chirag Patel Classified gene: ESRP2 as Amber List (moderate evidence)
Mendeliome v1.3740 ESRP2 Chirag Patel Gene: esrp2 has been classified as Amber List (Moderate Evidence).
Clefting disorders v0.292 ESRP2 Chirag Patel Classified gene: ESRP2 as Amber List (moderate evidence)
Clefting disorders v0.292 ESRP2 Chirag Patel Gene: esrp2 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.92 ESRP2 Chirag Patel Classified gene: ESRP2 as Amber List (moderate evidence)
Pituitary hormone deficiency v0.92 ESRP2 Chirag Patel Gene: esrp2 has been classified as Amber List (Moderate Evidence).
Clefting disorders v0.291 RAX Chirag Patel Marked gene: RAX as ready
Clefting disorders v0.291 RAX Chirag Patel Gene: rax has been classified as Amber List (Moderate Evidence).
Clefting disorders v0.291 RAX Chirag Patel commented on gene: RAX: Established association with bilateral microphthalmia or anophthalmia.

2 cases reported with bilateral cleft lip.

RAX is a paired-type homeoprotein that plays a critical role in eye and forebrain development of vertebrate species. RAX knockout mice have anophthalmia, cleft palate, and an abnormal hypothalamus and display perinatal lethality
Clefting disorders v0.291 RAX Chirag Patel Deleted their comment
Clefting disorders v0.291 Chirag Patel Copied gene RAX from panel Pituitary hormone deficiency
Clefting disorders v0.291 RAX Chirag Patel gene: RAX was added
gene: RAX was added to Clefting disorders. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: RAX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAX were set to 30811539, 40321348
Phenotypes for gene: RAX were set to Microphthalmia, syndromic 16, MIM#611038
Pituitary hormone deficiency v0.91 RAX Chirag Patel Marked gene: RAX as ready
Pituitary hormone deficiency v0.91 RAX Chirag Patel Gene: rax has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.91 RAX Chirag Patel Classified gene: RAX as Amber List (moderate evidence)
Pituitary hormone deficiency v0.91 RAX Chirag Patel Gene: rax has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.90 RAX Chirag Patel gene: RAX was added
gene: RAX was added to Pituitary hormone deficiency. Sources: Literature
Mode of inheritance for gene: RAX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAX were set to 30811539, 40321348
Phenotypes for gene: RAX were set to Microphthalmia, syndromic 16, MIM#611038
Review for gene: RAX was set to AMBER
Added comment: Established association with bilateral microphthalmia or anophthalmia.

2 cases reported with congenital hypopituitarism.

RAX is a paired-type homeoprotein that plays a critical role in eye and forebrain development of vertebrate species. RAX knockout mice have anophthalmia, cleft palate, and an abnormal hypothalamus and display perinatal lethality
Sources: Literature
Pituitary hormone deficiency v0.89 EIF2S3 Chirag Patel Marked gene: EIF2S3 as ready
Pituitary hormone deficiency v0.89 EIF2S3 Chirag Patel Gene: eif2s3 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.89 Chirag Patel Copied gene EIF2S3 from panel Intellectual disability syndromic and non-syndromic
Pituitary hormone deficiency v0.89 EIF2S3 Chirag Patel gene: EIF2S3 was added
gene: EIF2S3 was added to Pituitary hormone deficiency. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: EIF2S3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: EIF2S3 were set to 23063529; 27333055; 28055140; 32799315
Phenotypes for gene: EIF2S3 were set to MEHMO syndrome, MIM# 300148
Differences of Sex Development v1.27 Chirag Patel Added reviews for gene CUL4B from panel Mendeliome
Pituitary hormone deficiency v0.88 POLR3B Chirag Patel Marked gene: POLR3B as ready
Pituitary hormone deficiency v0.88 POLR3B Chirag Patel Gene: polr3b has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.88 Chirag Patel Copied gene POLR3B from panel Differences of Sex Development
Pituitary hormone deficiency v0.88 POLR3B Chirag Patel gene: POLR3B was added
gene: POLR3B was added to Pituitary hormone deficiency. Sources: Expert Review Green,Literature
Mode of inheritance for gene: POLR3B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLR3B were set to 27512013; 23355746; 22036171; 22036172; 25339210; 33005949; 22855961
Phenotypes for gene: POLR3B were set to Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism; OMIM #614381
Pituitary hormone deficiency v0.87 POLR3A Chirag Patel edited their review of gene: POLR3A: Added comment: ClinGen Definitive
POLR3A variants associated with tremor-ataxia with central hypomyelination (TACH), leukodystrophy with oligodontia (LO), and hypomyelination, hypodontia and hypogonadotropic hypogonadism (4H).; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pituitary hormone deficiency v0.87 POLR3A Chirag Patel Marked gene: POLR3A as ready
Pituitary hormone deficiency v0.87 POLR3A Chirag Patel Gene: polr3a has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.87 POLR3A Chirag Patel Added comment: Comment on phenotypes: POLR3A-related disorder MONDO:0700276
Pituitary hormone deficiency v0.87 POLR3A Chirag Patel Phenotypes for gene: POLR3A were changed from Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (607694) to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (607694)
Pituitary hormone deficiency v0.86 POLR3A Chirag Patel Classified gene: POLR3A as Green List (high evidence)
Pituitary hormone deficiency v0.86 POLR3A Chirag Patel Gene: polr3a has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.85 Chirag Patel Added reviews for gene POLR3A from panel Mendeliome
Pituitary hormone deficiency v0.84 ESRP2 Chirag Patel Classified gene: ESRP2 as Green List (high evidence)
Pituitary hormone deficiency v0.84 ESRP2 Chirag Patel Gene: esrp2 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.83 WDR11 Chirag Patel Marked gene: WDR11 as ready
Pituitary hormone deficiency v0.83 WDR11 Chirag Patel Gene: wdr11 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.83 WDR11 Chirag Patel Classified gene: WDR11 as Green List (high evidence)
Pituitary hormone deficiency v0.83 WDR11 Chirag Patel Gene: wdr11 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.82 Chirag Patel Added reviews for gene WDR11 from panel Primary Ovarian Insufficiency_Premature Ovarian Failure
Hypogonadotropic hypogonadism v0.0 Chirag Patel Added Panel Hypogonadotropic hypogonadism
Stroke v1.35 Zornitza Stark Copied gene MT-ND3 from panel Mitochondrial disease
Stroke v1.35 MT-ND3 Zornitza Stark gene: MT-ND3 was added
gene: MT-ND3 was added to Stroke. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-ND3.
Mode of inheritance for gene gene: MT-ND3 was set to MITOCHONDRIAL
Publications for gene: MT-ND3 were set to 1928099; 14705112; 14764913; 17152068; 20202874; 25118196; 25384404; 11456298; 19458970; 30199507; 29237403
Phenotypes for gene: MT-ND3 were set to Mitochondrial disease (MONDO:0044970), MT-ND3-related
Optic Atrophy v1.58 Zornitza Stark Copied gene MT-ND3 from panel Mitochondrial disease
Optic Atrophy v1.58 MT-ND3 Zornitza Stark gene: MT-ND3 was added
gene: MT-ND3 was added to Optic Atrophy. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-ND3.
Mode of inheritance for gene gene: MT-ND3 was set to MITOCHONDRIAL
Publications for gene: MT-ND3 were set to 1928099; 14705112; 14764913; 17152068; 20202874; 25118196; 25384404; 11456298; 19458970; 30199507; 29237403
Phenotypes for gene: MT-ND3 were set to Mitochondrial disease (MONDO:0044970), MT-ND3-related
Genetic Epilepsy v1.301 Zornitza Stark Copied gene MT-ND3 from panel Mitochondrial disease
Genetic Epilepsy v1.301 MT-ND3 Zornitza Stark gene: MT-ND3 was added
gene: MT-ND3 was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-ND3.
Mode of inheritance for gene gene: MT-ND3 was set to MITOCHONDRIAL
Publications for gene: MT-ND3 were set to 1928099; 14705112; 14764913; 17152068; 20202874; 25118196; 25384404; 11456298; 19458970; 30199507; 29237403
Phenotypes for gene: MT-ND3 were set to Mitochondrial disease (MONDO:0044970), MT-ND3-related
Dystonia - complex v0.289 Zornitza Stark Copied gene MT-ND3 from panel Mitochondrial disease
Dystonia - complex v0.289 MT-ND3 Zornitza Stark gene: MT-ND3 was added
gene: MT-ND3 was added to Dystonia - complex. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-ND3.
Mode of inheritance for gene gene: MT-ND3 was set to MITOCHONDRIAL
Publications for gene: MT-ND3 were set to 1928099; 14705112; 14764913; 17152068; 20202874; 25118196; 25384404; 11456298; 19458970; 30199507; 29237403
Phenotypes for gene: MT-ND3 were set to Mitochondrial disease (MONDO:0044970), MT-ND3-related
Congenital ophthalmoplegia v1.13 MT-ND2 Zornitza Stark Marked gene: MT-ND2 as ready
Congenital ophthalmoplegia v1.13 MT-ND2 Zornitza Stark Gene: mt-nd2 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.112 MT-ND2 Zornitza Stark Marked gene: MT-ND2 as ready
Muscular dystrophy and myopathy_Paediatric v1.112 MT-ND2 Zornitza Stark Gene: mt-nd2 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.112 Zornitza Stark Copied gene MT-ND2 from panel Mitochondrial disease
Muscular dystrophy and myopathy_Paediatric v1.112 MT-ND2 Zornitza Stark gene: MT-ND2 was added
gene: MT-ND2 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-ND2.
Mode of inheritance for gene gene: MT-ND2 was set to MITOCHONDRIAL
Publications for gene: MT-ND2 were set to 26258512; 16738010; 15781840; 12192017
Phenotypes for gene: MT-ND2 were set to Mitochondrial disease (MONDO:0044970), MT-ND2-related
Mendeliome v1.3739 MT-ND2 Zornitza Stark Tag mtDNA tag was added to gene: MT-ND2.
Congenital ophthalmoplegia v1.13 Zornitza Stark Copied gene MT-ND2 from panel Mitochondrial disease
Congenital ophthalmoplegia v1.13 MT-ND2 Zornitza Stark gene: MT-ND2 was added
gene: MT-ND2 was added to Congenital ophthalmoplegia. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-ND2.
Mode of inheritance for gene gene: MT-ND2 was set to MITOCHONDRIAL
Publications for gene: MT-ND2 were set to 26258512; 16738010; 15781840; 12192017
Phenotypes for gene: MT-ND2 were set to Mitochondrial disease (MONDO:0044970), MT-ND2-related
Stroke v1.34 MT-ND1 Zornitza Stark Marked gene: MT-ND1 as ready
Stroke v1.34 MT-ND1 Zornitza Stark Gene: mt-nd1 has been classified as Green List (High Evidence).
Optic Atrophy v1.57 MT-ND1 Zornitza Stark Marked gene: MT-ND1 as ready
Optic Atrophy v1.57 MT-ND1 Zornitza Stark Gene: mt-nd1 has been classified as Green List (High Evidence).
Stroke v1.34 Zornitza Stark Copied gene MT-ND1 from panel Mitochondrial disease
Stroke v1.34 MT-ND1 Zornitza Stark gene: MT-ND1 was added
gene: MT-ND1 was added to Stroke. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-ND1.
Mode of inheritance for gene gene: MT-ND1 was set to MITOCHONDRIAL
Publications for gene: MT-ND1 were set to 39147111; 36717040; 34656796
Phenotypes for gene: MT-ND1 were set to Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-ND1-related
Optic Atrophy v1.57 Zornitza Stark Copied gene MT-ND1 from panel Mitochondrial disease
Optic Atrophy v1.57 MT-ND1 Zornitza Stark gene: MT-ND1 was added
gene: MT-ND1 was added to Optic Atrophy. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-ND1.
Mode of inheritance for gene gene: MT-ND1 was set to MITOCHONDRIAL
Publications for gene: MT-ND1 were set to 39147111; 36717040; 34656796
Phenotypes for gene: MT-ND1 were set to Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-ND1-related
Mitochondrial disease v0.1109 MT-ND1 Zornitza Stark commented on gene: MT-ND1: DEFINITIVE by ClinGen.

There were four recurrent variants (m.3697G>A, m.3890G>A, m.3635G>A, m.3902_3908delinsGCAAGGT). Affected individuals present with a broad phenotypic spectrum of disease including Leber Hereditary Optic Neuropathy (LHON), mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), Leigh syndrome, and exercise intolerance phenotypes. The age of onset is also highly variable, ranging from infantile to adult. Muscle biopsies variably reveal focal subsarcolemmal accumulation of mitochondria, ragged red fibers, and isolated complex I deficiency.
Genomic newborn screening: ICoNS v0.16 F9 Jorune Balciuniene reviewed gene: F9: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301668, 32809627; Phenotypes: Hemophilia B; 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
Ataxia v1.152 MT-CYB Zornitza Stark Marked gene: MT-CYB as ready
Ataxia v1.152 MT-CYB Zornitza Stark Gene: mt-cyb has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.299 MT-CYB Zornitza Stark Marked gene: MT-CYB as ready
Deafness_IsolatedAndComplex v1.299 MT-CYB Zornitza Stark Gene: mt-cyb has been classified as Green List (High Evidence).
Genetic Epilepsy v1.300 MT-CYB Zornitza Stark Marked gene: MT-CYB as ready
Genetic Epilepsy v1.300 MT-CYB Zornitza Stark Gene: mt-cyb has been classified as Green List (High Evidence).
Stroke v1.33 MT-CO3 Zornitza Stark Marked gene: MT-CO3 as ready
Stroke v1.33 MT-CO3 Zornitza Stark Gene: mt-co3 has been classified as Green List (High Evidence).
Stroke v1.33 MT-CO3 Zornitza Stark Publications for gene: MT-CO3 were set to 11063732; 33863631; 34054915; 8630495; 9634511; 12414820; 21163656; 16288875; 8630495; 9634511
Stroke v1.32 MT-CO3 Zornitza Stark Tag mtDNA tag was added to gene: MT-CO3.
Mitochondrial disease v0.1109 MT-CO3 Zornitza Stark Publications for gene: MT-CO3 were set to 11063732; 33863631; 34054915; 8630495; 9634511; 12414820; 21163656; 16288875; 8630495; 9634511
Mitochondrial disease v0.1108 MT-CO3 Zornitza Stark Tag mtDNA tag was added to gene: MT-CO3.
Mendeliome v1.3739 MT-CO3 Zornitza Stark Marked gene: MT-CO3 as ready
Mendeliome v1.3739 MT-CO3 Zornitza Stark Gene: mt-co3 has been classified as Green List (High Evidence).
Mendeliome v1.3739 MT-CO3 Zornitza Stark Publications for gene: MT-CO3 were set to 11063732; 33863631; 34054915; 8630495; 9634511; 12414820; 21163656; 16288875; 8630495; 9634511
Mendeliome v1.3738 MT-CO3 Zornitza Stark Tag mtDNA tag was added to gene: MT-CO3.
Rhabdomyolysis and Metabolic Myopathy v1.28 MT-CO3 Zornitza Stark Marked gene: MT-CO3 as ready
Rhabdomyolysis and Metabolic Myopathy v1.28 MT-CO3 Zornitza Stark Gene: mt-co3 has been classified as Green List (High Evidence).
Rhabdomyolysis and Metabolic Myopathy v1.28 MT-CO3 Zornitza Stark Publications for gene: MT-CO3 were set to 20525945; 11063732; 33863631; 34054915; 8630495; 9634511; 12414820; 21163656; 16288875; 8630495; 9634511
Rhabdomyolysis and Metabolic Myopathy v1.28 MT-CO3 Zornitza Stark Publications for gene: MT-CO3 were set to 11063732; 33863631; 34054915; 8630495; 9634511; 12414820; 21163656; 16288875; 8630495; 9634511
Genetic Epilepsy v1.300 Zornitza Stark Copied gene MT-CYB from panel Mitochondrial disease
Genetic Epilepsy v1.300 MT-CYB Zornitza Stark gene: MT-CYB was added
gene: MT-CYB was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-CYB.
Mode of inheritance for gene gene: MT-CYB was set to MITOCHONDRIAL
Publications for gene: MT-CYB were set to 39858655; 34804306; 26937408
Phenotypes for gene: MT-CYB were set to mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CYB-related
Deafness_IsolatedAndComplex v1.299 Zornitza Stark Copied gene MT-CYB from panel Mitochondrial disease
Deafness_IsolatedAndComplex v1.299 MT-CYB Zornitza Stark gene: MT-CYB was added
gene: MT-CYB was added to Deafness_IsolatedAndComplex. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-CYB.
Mode of inheritance for gene gene: MT-CYB was set to MITOCHONDRIAL
Publications for gene: MT-CYB were set to 39858655; 34804306; 26937408
Phenotypes for gene: MT-CYB were set to mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CYB-related
Rhabdomyolysis and Metabolic Myopathy v1.27 MT-CO3 Zornitza Stark Tag mtDNA tag was added to gene: MT-CO3.
Ataxia v1.152 Zornitza Stark Copied gene MT-CYB from panel Mitochondrial disease
Ataxia v1.152 MT-CYB Zornitza Stark gene: MT-CYB was added
gene: MT-CYB was added to Ataxia. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-CYB.
Mode of inheritance for gene gene: MT-CYB was set to MITOCHONDRIAL
Publications for gene: MT-CYB were set to 39858655; 34804306; 26937408
Phenotypes for gene: MT-CYB were set to mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CYB-related
Mitochondrial disease v0.1108 MT-CYB Zornitza Stark commented on gene: MT-CYB: DEFINITIVE by ClinGen.

Clinical presentation is with progressive exercise intolerance as well as progressive multisystem disease manifestations (encephalopathy, headaches, ataxia, hearing loss, cataracts, retinal dystrophy, ophthalmoplegia, epilepsy, nausea, vomiting, Wolff-Parkinson-White arrhythmia). Affected individuals typically have elevated lactate levels with muscle biopsies revealing an isolated complex III deficiency and ragged red fibers.
Stroke v1.32 Zornitza Stark Copied gene MT-CO3 from panel Mitochondrial disease
Stroke v1.32 MT-CO3 Zornitza Stark gene: MT-CO3 was added
gene: MT-CO3 was added to Stroke. Sources: Expert Review Green,Literature
Mode of inheritance for gene gene: MT-CO3 was set to MITOCHONDRIAL
Publications for gene: MT-CO3 were set to 11063732; 33863631; 34054915; 8630495; 9634511; 12414820; 21163656; 16288875; 8630495; 9634511
Phenotypes for gene: MT-CO3 were set to Mitochondrial disease MONDO:0044970, MT-CO3-related
Rhabdomyolysis and Metabolic Myopathy v1.27 Zornitza Stark Copied gene MT-CO3 from panel Mitochondrial disease
Rhabdomyolysis and Metabolic Myopathy v1.27 MT-CO3 Zornitza Stark gene: MT-CO3 was added
gene: MT-CO3 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Expert Review Green,Literature
Mode of inheritance for gene gene: MT-CO3 was set to MITOCHONDRIAL
Publications for gene: MT-CO3 were set to 11063732; 33863631; 34054915; 8630495; 9634511; 12414820; 21163656; 16288875; 8630495; 9634511
Phenotypes for gene: MT-CO3 were set to Mitochondrial disease MONDO:0044970, MT-CO3-related
Mendeliome v1.3738 Zornitza Stark Copied gene MT-CO3 from panel Mitochondrial disease
Mendeliome v1.3738 MT-CO3 Zornitza Stark gene: MT-CO3 was added
gene: MT-CO3 was added to Mendeliome. Sources: Expert Review Green,Literature
Mode of inheritance for gene gene: MT-CO3 was set to MITOCHONDRIAL
Publications for gene: MT-CO3 were set to 11063732; 33863631; 34054915; 8630495; 9634511; 12414820; 21163656; 16288875; 8630495; 9634511
Phenotypes for gene: MT-CO3 were set to Mitochondrial disease MONDO:0044970, MT-CO3-related
Mitochondrial disease v0.1108 MT-CO3 Zornitza Stark Phenotypes for gene: MT-CO3 were changed from Leigh syndrome; Leigh-like syndrome; Myopathy; Encephalopathy and myopathy to Mitochondrial disease MONDO:0044970, MT-CO3-related
Mitochondrial disease v0.1107 MT-CO3 Zornitza Stark Publications for gene: MT-CO3 were set to 11063732; 33863631; 34054915; 8630495; 9634511; 12414820; 21163656; 16288875; 8630495; 9634511
Mitochondrial disease v0.1106 MT-CO3 Zornitza Stark Publications for gene: MT-CO3 were set to 20525945; 9634511; 11063732; 12414820
Mitochondrial disease v0.1105 MT-CO3 Zornitza Stark reviewed gene: MT-CO3: Rating: GREEN; Mode of pathogenicity: None; Publications: 11063732, 33863631, 34054915, 8630495, 9634511, 12414820, 21163656, 16288875, 8630495, 9634511; Phenotypes: Mitochondrial disease MONDO:0044970, MT-CO3-related; Mode of inheritance: MITOCHONDRIAL
Stroke v1.31 MT-CO2 Zornitza Stark Marked gene: MT-CO2 as ready
Stroke v1.31 MT-CO2 Zornitza Stark Gene: mt-co2 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v1.42 MT-CO2 Zornitza Stark Marked gene: MT-CO2 as ready
Hereditary Neuropathy - complex v1.42 MT-CO2 Zornitza Stark Gene: mt-co2 has been classified as Green List (High Evidence).
Ataxia v1.151 MT-CO2 Zornitza Stark Marked gene: MT-CO2 as ready
Ataxia v1.151 MT-CO2 Zornitza Stark Gene: mt-co2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.476 MT-CO2 Zornitza Stark Marked gene: MT-CO2 as ready
Intellectual disability syndromic and non-syndromic v1.476 MT-CO2 Zornitza Stark Gene: mt-co2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.298 MT-CO2 Zornitza Stark Marked gene: MT-CO2 as ready
Deafness_IsolatedAndComplex v1.298 MT-CO2 Zornitza Stark Gene: mt-co2 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.299 MT-CO2 Zornitza Stark Marked gene: MT-CO2 as ready
Genetic Epilepsy v1.299 MT-CO2 Zornitza Stark Gene: mt-co2 has been classified as Green List (High Evidence).
Optic Atrophy v1.56 MT-CO2 Zornitza Stark Marked gene: MT-CO2 as ready
Optic Atrophy v1.56 MT-CO2 Zornitza Stark Gene: mt-co2 has been classified as Green List (High Evidence).
Stroke v1.31 Zornitza Stark Copied gene MT-CO2 from panel Mitochondrial disease
Stroke v1.31 MT-CO2 Zornitza Stark gene: MT-CO2 was added
gene: MT-CO2 was added to Stroke. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-CO2.
Mode of inheritance for gene gene: MT-CO2 was set to MITOCHONDRIAL
Publications for gene: MT-CO2 were set to 34325999; 30315213; 28521807; 10205264; 10486321; 11558799; 18245391; 23616164; 31167410; 23965802; 30030519
Phenotypes for gene: MT-CO2 were set to Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO2-related
Optic Atrophy v1.56 Zornitza Stark Copied gene MT-CO2 from panel Mitochondrial disease
Optic Atrophy v1.56 MT-CO2 Zornitza Stark gene: MT-CO2 was added
gene: MT-CO2 was added to Optic Atrophy. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-CO2.
Mode of inheritance for gene gene: MT-CO2 was set to MITOCHONDRIAL
Publications for gene: MT-CO2 were set to 34325999; 30315213; 28521807; 10205264; 10486321; 11558799; 18245391; 23616164; 31167410; 23965802; 30030519
Phenotypes for gene: MT-CO2 were set to Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO2-related
Intellectual disability syndromic and non-syndromic v1.476 Zornitza Stark Copied gene MT-CO2 from panel Mitochondrial disease
Intellectual disability syndromic and non-syndromic v1.476 MT-CO2 Zornitza Stark gene: MT-CO2 was added
gene: MT-CO2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-CO2.
Mode of inheritance for gene gene: MT-CO2 was set to MITOCHONDRIAL
Publications for gene: MT-CO2 were set to 34325999; 30315213; 28521807; 10205264; 10486321; 11558799; 18245391; 23616164; 31167410; 23965802; 30030519
Phenotypes for gene: MT-CO2 were set to Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO2-related
Hereditary Neuropathy - complex v1.42 Zornitza Stark Copied gene MT-CO2 from panel Mitochondrial disease
Hereditary Neuropathy - complex v1.42 MT-CO2 Zornitza Stark gene: MT-CO2 was added
gene: MT-CO2 was added to Hereditary Neuropathy - complex. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-CO2.
Mode of inheritance for gene gene: MT-CO2 was set to MITOCHONDRIAL
Publications for gene: MT-CO2 were set to 34325999; 30315213; 28521807; 10205264; 10486321; 11558799; 18245391; 23616164; 31167410; 23965802; 30030519
Phenotypes for gene: MT-CO2 were set to Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO2-related
Genetic Epilepsy v1.299 Zornitza Stark Copied gene MT-CO2 from panel Mitochondrial disease
Genetic Epilepsy v1.299 MT-CO2 Zornitza Stark gene: MT-CO2 was added
gene: MT-CO2 was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-CO2.
Mode of inheritance for gene gene: MT-CO2 was set to MITOCHONDRIAL
Publications for gene: MT-CO2 were set to 34325999; 30315213; 28521807; 10205264; 10486321; 11558799; 18245391; 23616164; 31167410; 23965802; 30030519
Phenotypes for gene: MT-CO2 were set to Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO2-related
Stroke v1.30 MT-CO1 Zornitza Stark Marked gene: MT-CO1 as ready
Stroke v1.30 MT-CO1 Zornitza Stark Gene: mt-co1 has been classified as Green List (High Evidence).
Ataxia v1.150 MT-CO1 Zornitza Stark Marked gene: MT-CO1 as ready
Ataxia v1.150 MT-CO1 Zornitza Stark Gene: mt-co1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.297 MT-CO1 Zornitza Stark Marked gene: MT-CO1 as ready
Deafness_IsolatedAndComplex v1.297 MT-CO1 Zornitza Stark Gene: mt-co1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.298 Zornitza Stark Copied gene MT-CO2 from panel Mitochondrial disease
Deafness_IsolatedAndComplex v1.298 MT-CO2 Zornitza Stark gene: MT-CO2 was added
gene: MT-CO2 was added to Deafness_IsolatedAndComplex. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-CO2.
Mode of inheritance for gene gene: MT-CO2 was set to MITOCHONDRIAL
Publications for gene: MT-CO2 were set to 34325999; 30315213; 28521807; 10205264; 10486321; 11558799; 18245391; 23616164; 31167410; 23965802; 30030519
Phenotypes for gene: MT-CO2 were set to Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO2-related
Genetic Epilepsy v1.298 MT-CO1 Zornitza Stark Marked gene: MT-CO1 as ready
Genetic Epilepsy v1.298 MT-CO1 Zornitza Stark Gene: mt-co1 has been classified as Green List (High Evidence).
Optic Atrophy v1.55 MT-CO1 Zornitza Stark Marked gene: MT-CO1 as ready
Optic Atrophy v1.55 MT-CO1 Zornitza Stark Gene: mt-co1 has been classified as Green List (High Evidence).
Ataxia v1.151 Zornitza Stark Copied gene MT-CO2 from panel Mitochondrial disease
Ataxia v1.151 MT-CO2 Zornitza Stark gene: MT-CO2 was added
gene: MT-CO2 was added to Ataxia. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-CO2.
Mode of inheritance for gene gene: MT-CO2 was set to MITOCHONDRIAL
Publications for gene: MT-CO2 were set to 34325999; 30315213; 28521807; 10205264; 10486321; 11558799; 18245391; 23616164; 31167410; 23965802; 30030519
Phenotypes for gene: MT-CO2 were set to Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO2-related
Mitochondrial disease v0.1105 MT-CO2 Zornitza Stark Publications for gene: MT-CO2 were set to 34325999; 30315213; 28521807
Mitochondrial disease v0.1104 MT-CO2 Zornitza Stark edited their review of gene: MT-CO2: Added comment: DEFINITIVE by ClinGen.

At least eight variants (m.7587T>C, m.7671T>A, m.7896G>A, m.7630del, m.8156dup, m.8156del, m.8163A>G, m.8088del) reported in in eight individuals across multiple publications. Single fiber testing further supported the pathogenicity of several of these variants. Age of onset in affected individuals ranged from childhood to the mid-40s. Clinical features included Leigh syndrome, myopathy, muscle wasting, ataxia, epilepsy, stroke-like episodes, global developmental delay, cognitive decline, psychosis, axonal sensorimotor neuropathy, sensorineural hearing loss, retinitis pigmentosa, cataracts, optic atrophy, and left ventricular hypertrophy. Brain imaging was variable and ranged from normal to findings consistent with Leigh syndrome, cerebral and cerebellar atrophy, and agenesis of the corpus callosum. Muscle biopsies showed ragged red fibers, COX-deficient fibers, lipid accumulation, subsarcolemmal accumulation of mitochondria, and complex IV deficiency. Metabolic screening investigations showed elevated lactate. Heteroplasmy levels in affected individuals were highest in muscle when multiple tissues were assessed (56-95% in muscle, undetectable to 67% in blood, 33-49% in buccal, undetectable to 89% in skin fibroblasts, and undetectable to 49% in urine). The mechanism of pathogenicity appears to be loss of function resulting in specific loss of complex IV activity. This gene-disease relationship is also supported by known biochemical function and in vitro functional assays demonstrating altered mitochondrial function as a result of variants in MT-CO2.; Changed publications: 34325999, 30315213, 28521807, 10205264, 10486321, 11558799, 18245391, 23616164, 31167410, 23965802, 30030519
Stroke v1.30 Zornitza Stark Copied gene MT-CO1 from panel Mitochondrial disease
Stroke v1.30 MT-CO1 Zornitza Stark gene: MT-CO1 was added
gene: MT-CO1 was added to Stroke. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-CO1.
Mode of inheritance for gene gene: MT-CO1 was set to MITOCHONDRIAL
Publications for gene: MT-CO1 were set to 30743023; 39460813; 24956508; 10441567; 10980727; 15751226; 16284789; 18977334; 22832341; 18276892; 30030519
Phenotypes for gene: MT-CO1 were set to Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO1-related
Optic Atrophy v1.55 Zornitza Stark Copied gene MT-CO1 from panel Mitochondrial disease
Optic Atrophy v1.55 MT-CO1 Zornitza Stark gene: MT-CO1 was added
gene: MT-CO1 was added to Optic Atrophy. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-CO1.
Mode of inheritance for gene gene: MT-CO1 was set to MITOCHONDRIAL
Publications for gene: MT-CO1 were set to 30743023; 39460813; 24956508; 10441567; 10980727; 15751226; 16284789; 18977334; 22832341; 18276892; 30030519
Phenotypes for gene: MT-CO1 were set to Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO1-related
Genetic Epilepsy v1.298 Zornitza Stark Copied gene MT-CO1 from panel Mitochondrial disease
Genetic Epilepsy v1.298 MT-CO1 Zornitza Stark gene: MT-CO1 was added
gene: MT-CO1 was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-CO1.
Mode of inheritance for gene gene: MT-CO1 was set to MITOCHONDRIAL
Publications for gene: MT-CO1 were set to 30743023; 39460813; 24956508; 10441567; 10980727; 15751226; 16284789; 18977334; 22832341; 18276892; 30030519
Phenotypes for gene: MT-CO1 were set to Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO1-related
Deafness_IsolatedAndComplex v1.297 Zornitza Stark Copied gene MT-CO1 from panel Mitochondrial disease
Deafness_IsolatedAndComplex v1.297 MT-CO1 Zornitza Stark gene: MT-CO1 was added
gene: MT-CO1 was added to Deafness_IsolatedAndComplex. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-CO1.
Mode of inheritance for gene gene: MT-CO1 was set to MITOCHONDRIAL
Publications for gene: MT-CO1 were set to 30743023; 39460813; 24956508; 10441567; 10980727; 15751226; 16284789; 18977334; 22832341; 18276892; 30030519
Phenotypes for gene: MT-CO1 were set to Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO1-related
Ataxia v1.150 Zornitza Stark Copied gene MT-CO1 from panel Mitochondrial disease
Ataxia v1.150 MT-CO1 Zornitza Stark gene: MT-CO1 was added
gene: MT-CO1 was added to Ataxia. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-CO1.
Mode of inheritance for gene gene: MT-CO1 was set to MITOCHONDRIAL
Publications for gene: MT-CO1 were set to 30743023; 39460813; 24956508; 10441567; 10980727; 15751226; 16284789; 18977334; 22832341; 18276892; 30030519
Phenotypes for gene: MT-CO1 were set to Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO1-related
Mitochondrial disease v0.1104 MT-CO1 Zornitza Stark Phenotypes for gene: MT-CO1 were changed from Leber's optic atrophy; Sideroblastic anaemia; Cytochrome c oxidase deficiency; Myoglobinuria to Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO1-related
Mitochondrial disease v0.1103 MT-CO1 Zornitza Stark Publications for gene: MT-CO1 were set to 30743023; 39460813; 24956508
Mitochondrial disease v0.1102 MT-CO1 Zornitza Stark edited their review of gene: MT-CO1: Added comment: DEFINITIVE by ClinGen for mitochondrial disease.

At least eight variants (m.5920G>A, m.6328C>T, m.6579G>A, m.6597C>A, m.6698del, m.6708G>A, m.6930G>A, m.7402del) have been reported in eight individuals across multiple publications. Single fiber testing and cybrid analyses supported the pathogenicity of several of these variants. Age of onset in affected individuals ranged from infancy to adolescence. Clinical features included Leigh syndrome, cognitive decline, exercise intolerance, myoglobinuria, stroke-like episodes, myoclonic epilepsy, cerebellar ataxia, muscle weakness and atrophy, cataracts, optic atrophy, sensorineural hearing loss, and left ventricular hypertrophy. Brain imaging was variable and ranged from normal to findings consistent with LSS, cerebellar atrophy, and cortical atrophy. Muscle biopsies showed ragged red fibers, COX-deficient fibers, and complex IV deficiency. Metabolic laboratory investigations revealed normal to elevated lactate and creatine kinase (CK). Heteroplasmy levels in affected individuals were highest in muscle when multiple tissues were assessed (61-95% in muscle, undetectable to 30% in blood, undetectable to 40% in skin fibroblasts, undetectable in hair follicles when tested, and 15-70% in urine).

The mechanism of pathogenicity appears to be loss of function resulting in specific loss of complex IV activity. This gene-disease relationship is also supported by known biochemical function, in vitro functional assays, and a mouse model, all of which demonstrate altered mitochondrial function as a result of variants in MT-CO1.; Changed publications: 30743023, 39460813, 24956508, 10441567, 10980727, 15751226, 16284789, 18977334, 22832341, 18276892, 30030519
Muscular dystrophy and myopathy_Paediatric v1.111 HMGCS1 Zornitza Stark Phenotypes for gene: HMGCS1 were changed from Rigid spine syndrome, MONDO:0019951, HMGCS1-related to Congenital myopathy 28 with rigid spine, MIM# 621433
Muscular dystrophy and myopathy_Paediatric v1.110 HMGCS1 Zornitza Stark edited their review of gene: HMGCS1: Changed phenotypes: Congenital myopathy 28 with rigid spine, MIM# 621433
Mendeliome v1.3737 HMGCS1 Zornitza Stark Phenotypes for gene: HMGCS1 were changed from Rigid spine syndrome, MONDO:0019951, HMGCS1-related to Congenital myopathy 28 with rigid spine, MIM# 621433
Mendeliome v1.3736 HMGCS1 Zornitza Stark edited their review of gene: HMGCS1: Changed phenotypes: Congenital myopathy 28 with rigid spine, MIM# 621433
Genomic newborn screening: ICoNS v0.16 GALK1 François BOEMER edited their review of gene: GALK1: Changed phenotypes: Early-onset cataract
Genomic newborn screening: ICoNS v0.16 GALK1 François BOEMER changed review comment from: Development of cataracts is fully preventable if diagnosis is made early and a galactose-restricted diet is implemented and strictly followed.
Disorder is included in the RUSP as a secondary condition.
NBS could be performed by gNBS, or quantifying total Galactose on DBS. Urinary galactitol is elevated in a majority of neonate patients.; to: Development of cataracts is fully preventable if diagnosis is made early and a galactose-restricted diet is implemented and strictly followed.
Disorder is included in the RUSP as a secondary condition. NBS could be performed by gNBS, or by quantifying total Galactose on DBS. Urinary galactitol is elevated in a majority of neonate patients.
GALK1 is curated by ClinGen. Only SNPs variants are described in Clinvar, mainly in the coding or intronic-boundaries regions
Genomic newborn screening: ICoNS v0.16 GALK1 François BOEMER changed review comment from: Included in the RUSP as a secondary condition.
Development of cataracts appears to be fully preventable if diagnosis is made early and a galactose-restricted diet is implemented and strictly followed.
Sources: Expert Review; to: Development of cataracts is fully preventable if diagnosis is made early and a galactose-restricted diet is implemented and strictly followed.
Disorder is included in the RUSP as a secondary condition.
NBS could be performed by gNBS, or quantifying total Galactose on DBS. Urinary galactitol is elevated in a majority of neonate patients.
Genomic newborn screening: ICoNS v0.16 GALK1 François BOEMER edited their review of gene: GALK1: Changed publications: PMID: 32807972
Genomic newborn screening: ICoNS v0.16 GALK1 François BOEMER changed review comment from: Included in the RUSP as a secondary condition.
Development of cataracts appears to be fully preventable if diagnosis is made early and a galactose-restricted diet is implemented and strictly followed.
Sources: Expert Review; to: Included in the RUSP as a secondary condition.
Development of cataracts appears to be fully preventable if diagnosis is made early and a galactose-restricted diet is implemented and strictly followed.
Sources: Expert Review
Genomic newborn screening: ICoNS v0.16 GALK1 François BOEMER gene: GALK1 was added
gene: GALK1 was added to Genomic newborn screening: ICoNS. Sources: Expert Review
Mode of inheritance for gene: GALK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALK1 were set to very early-onset cataract
Penetrance for gene: GALK1 were set to Complete
Review for gene: GALK1 was set to GREEN
Added comment: Included in the RUSP as a secondary condition.
Development of cataracts appears to be fully preventable if diagnosis is made early and a galactose-restricted diet is implemented and strictly followed.
Sources: Expert Review
Hereditary Neuropathy - complex v1.41 MT-ATP8 Zornitza Stark Marked gene: MT-ATP8 as ready
Hereditary Neuropathy - complex v1.41 MT-ATP8 Zornitza Stark Gene: mt-atp8 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3736 MT-ATP8 Zornitza Stark Classified gene: MT-ATP8 as Amber List (moderate evidence)
Mendeliome v1.3736 MT-ATP8 Zornitza Stark Gene: mt-atp8 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3735 MT-ATP8 Zornitza Stark edited their review of gene: MT-ATP8: Changed publications: 40112238, 24153443, 20207608, 32858252, 33340416, 32858252, 19759059, 22919063
Genetic Epilepsy v1.297 MT-ATP8 Zornitza Stark Marked gene: MT-ATP8 as ready
Genetic Epilepsy v1.297 MT-ATP8 Zornitza Stark Gene: mt-atp8 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3735 MT-ATP8 Zornitza Stark edited their review of gene: MT-ATP8: Changed rating: AMBER
Mendeliome v1.3735 MT-ATP8 Zornitza Stark Deleted their comment
Mendeliome v1.3735 MT-ATP8 Zornitza Stark commented on gene: MT-ATP8: LIMITED by ClinGen. Three variants (m.8403T>C, m.8411A>G, m.8424T>C) have been reported in three individuals. Age of onset varied from birth to the 30s. Clinical features included muscle weakness, wasting, and cramping; dysarthria, headache, periodic paralysis, seizures, mood disorder, neuropathy, pancreatitis, diarrhoea, and weight loss. Brain imaging revealed cerebellar atrophy; lactate was elevated. The gene-disease relationship is also supported by a biochemical function (complex V subunit) shared with other genes associated with primary mitochondrial disease, functional alteration in non-patient cells, and model organisms.
Hereditary Neuropathy - complex v1.41 Zornitza Stark Copied gene MT-ATP8 from panel Mitochondrial disease
Hereditary Neuropathy - complex v1.41 MT-ATP8 Zornitza Stark gene: MT-ATP8 was added
gene: MT-ATP8 was added to Hereditary Neuropathy - complex. Sources: Expert Review Amber,Expert list
mtDNA tags were added to gene: MT-ATP8.
Mode of inheritance for gene gene: MT-ATP8 was set to MITOCHONDRIAL
Publications for gene: MT-ATP8 were set to 24153443; 20207608; 32858252; 33340416; 32858252; 19759059; 22919063
Phenotypes for gene: MT-ATP8 were set to Mitochondrial disease MONDO:0044970, MT-ATP8 related
Genetic Epilepsy v1.297 Zornitza Stark Copied gene MT-ATP8 from panel Mitochondrial disease
Genetic Epilepsy v1.297 MT-ATP8 Zornitza Stark gene: MT-ATP8 was added
gene: MT-ATP8 was added to Genetic Epilepsy. Sources: Expert Review Amber,Expert list
mtDNA tags were added to gene: MT-ATP8.
Mode of inheritance for gene gene: MT-ATP8 was set to MITOCHONDRIAL
Publications for gene: MT-ATP8 were set to 24153443; 20207608; 32858252; 33340416; 32858252; 19759059; 22919063
Phenotypes for gene: MT-ATP8 were set to Mitochondrial disease MONDO:0044970, MT-ATP8 related
Mitochondrial disease v0.1102 MT-ATP8 Zornitza Stark Phenotypes for gene: MT-ATP8 were changed from Mitochondrial cardiomyopathy complex V (ATP synthase) deficiency to Mitochondrial disease MONDO:0044970, MT-ATP8 related
Mitochondrial disease v0.1101 MT-ATP8 Zornitza Stark edited their review of gene: MT-ATP8: Changed phenotypes: Mitochondrial disease MONDO:0044970, MT-ATP8 related
Mitochondrial disease v0.1101 MT-ATP8 Zornitza Stark Publications for gene: MT-ATP8 were set to
Mitochondrial disease v0.1100 MT-ATP8 Zornitza Stark Classified gene: MT-ATP8 as Amber List (moderate evidence)
Mitochondrial disease v0.1100 MT-ATP8 Zornitza Stark Gene: mt-atp8 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.1099 MT-ATP8 Zornitza Stark Deleted their comment
Mitochondrial disease v0.1099 MT-ATP8 Zornitza Stark edited their review of gene: MT-ATP8: Added comment: LIMITED by ClinGen. Three variants (m.8403T>C, m.8411A>G, m.8424T>C) have been reported in three individuals. Age of onset varied from birth to the 30s. Clinical features included muscle weakness, wasting, and cramping; dysarthria, headache, periodic paralysis, seizures, mood disorder, neuropathy, pancreatitis, diarrhoea, and weight loss. Brain imaging revealed cerebellar atrophy; lactate was elevated. The gene-disease relationship is also supported by a biochemical function (complex V subunit) shared with other genes associated with primary mitochondrial disease, functional alteration in non-patient cells, and model organisms.; Changed rating: AMBER; Changed publications: 24153443, 20207608, 32858252, 33340416, 32858252, 19759059, 22919063
Retinitis pigmentosa v0.224 MT-ATP6 Zornitza Stark Marked gene: MT-ATP6 as ready
Retinitis pigmentosa v0.224 MT-ATP6 Zornitza Stark Gene: mt-atp6 has been classified as Green List (High Evidence).
Ataxia v1.149 MT-ATP6 Zornitza Stark Marked gene: MT-ATP6 as ready
Ataxia v1.149 MT-ATP6 Zornitza Stark Gene: mt-atp6 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.475 MT-ATP6 Zornitza Stark Marked gene: MT-ATP6 as ready
Intellectual disability syndromic and non-syndromic v1.475 MT-ATP6 Zornitza Stark Gene: mt-atp6 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.296 MT-ATP6 Zornitza Stark Marked gene: MT-ATP6 as ready
Deafness_IsolatedAndComplex v1.296 MT-ATP6 Zornitza Stark Gene: mt-atp6 has been classified as Green List (High Evidence).
Retinitis pigmentosa v0.224 Zornitza Stark Copied gene MT-ATP6 from panel Mitochondrial disease
Retinitis pigmentosa v0.224 MT-ATP6 Zornitza Stark gene: MT-ATP6 was added
gene: MT-ATP6 was added to Retinitis pigmentosa. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-ATP6.
Mode of inheritance for gene gene: MT-ATP6 was set to MITOCHONDRIAL
Publications for gene: MT-ATP6 were set to 40112238
Phenotypes for gene: MT-ATP6 were set to Mitochondrial complex V (ATP synthase) deficiency, MONDO:0014471, MT-ATP6-related
Intellectual disability syndromic and non-syndromic v1.475 Zornitza Stark Copied gene MT-ATP6 from panel Mitochondrial disease
Intellectual disability syndromic and non-syndromic v1.475 MT-ATP6 Zornitza Stark gene: MT-ATP6 was added
gene: MT-ATP6 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-ATP6.
Mode of inheritance for gene gene: MT-ATP6 was set to MITOCHONDRIAL
Publications for gene: MT-ATP6 were set to 40112238
Phenotypes for gene: MT-ATP6 were set to Mitochondrial complex V (ATP synthase) deficiency, MONDO:0014471, MT-ATP6-related
Deafness_IsolatedAndComplex v1.296 Zornitza Stark Copied gene MT-ATP6 from panel Mitochondrial disease
Deafness_IsolatedAndComplex v1.296 MT-ATP6 Zornitza Stark gene: MT-ATP6 was added
gene: MT-ATP6 was added to Deafness_IsolatedAndComplex. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-ATP6.
Mode of inheritance for gene gene: MT-ATP6 was set to MITOCHONDRIAL
Publications for gene: MT-ATP6 were set to 40112238
Phenotypes for gene: MT-ATP6 were set to Mitochondrial complex V (ATP synthase) deficiency, MONDO:0014471, MT-ATP6-related
Ataxia v1.149 Zornitza Stark Copied gene MT-ATP6 from panel Mitochondrial disease
Ataxia v1.149 MT-ATP6 Zornitza Stark gene: MT-ATP6 was added
gene: MT-ATP6 was added to Ataxia. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-ATP6.
Mode of inheritance for gene gene: MT-ATP6 was set to MITOCHONDRIAL
Publications for gene: MT-ATP6 were set to 40112238
Phenotypes for gene: MT-ATP6 were set to Mitochondrial complex V (ATP synthase) deficiency, MONDO:0014471, MT-ATP6-related
Mitochondrial disease v0.1099 FH Zornitza Stark Marked gene: FH as ready
Mitochondrial disease v0.1099 FH Zornitza Stark Gene: fh has been classified as Green List (High Evidence).
Mitochondrial disease v0.1099 FH Zornitza Stark Phenotypes for gene: FH were changed from to hereditary leiomyomatosis and renal cell cancer MONDO:0007888; fumaric aciduria MONDO:0011730
Mitochondrial disease v0.1098 FH Zornitza Stark Publications for gene: FH were set to
Mitochondrial disease v0.1097 FH Zornitza Stark Mode of inheritance for gene: FH was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v1.474 FASTKD5 Zornitza Stark Phenotypes for gene: FASTKD5 were changed from Leigh syndrome MONDO:0009723, FASTKD5-related to Mitochondrial complex IV deficiency, nuclear type 24, MIM# 621431
Intellectual disability syndromic and non-syndromic v1.473 FASTKD5 Zornitza Stark reviewed gene: FASTKD5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 24, MIM# 621431; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1096 FASTKD5 Zornitza Stark Phenotypes for gene: FASTKD5 were changed from Leigh syndrome MONDO:0009723, FASTKD5-related to Mitochondrial complex IV deficiency, nuclear type 24, MIM# 621431
Mitochondrial disease v0.1095 FASTKD5 Zornitza Stark reviewed gene: FASTKD5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 24, MIM# 621431; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.3735 FASTKD5 Zornitza Stark Phenotypes for gene: FASTKD5 were changed from Leigh syndrome MONDO:0009723, FASTKD5-related to Mitochondrial complex IV deficiency, nuclear type 24, MIM# 621431
Mendeliome v1.3734 FASTKD5 Zornitza Stark reviewed gene: FASTKD5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 24, MIM# 621431; Mode of inheritance: None
Ataxia v1.148 Bryony Thompson Copied STR THAP11_SCA51_CAG from panel Ataxia - adult onset
Ataxia v1.148 THAP11_SCA51_CAG Bryony Thompson STR: THAP11_SCA51_CAG was added
STR: THAP11_SCA51_CAG was added to Ataxia. Sources: Expert Review Amber,Literature
Mode of inheritance for STR: THAP11_SCA51_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: THAP11_SCA51_CAG were set to 15368101; 24677642; 34165550; 38113319; 40459937; 39651830; 37148549
Phenotypes for STR: THAP11_SCA51_CAG were set to Spinocerebellar ataxia 51 MONDO:0975800
Ataxia v1.147 Bryony Thompson Copied STR ZFHX3_SCA4_GGC from panel Ataxia - adult onset
Ataxia v1.147 ZFHX3_SCA4_GGC Bryony Thompson STR: ZFHX3_SCA4_GGC was added
STR: ZFHX3_SCA4_GGC was added to Ataxia. Sources: Expert Review Green,Literature
Mode of inheritance for STR: ZFHX3_SCA4_GGC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: ZFHX3_SCA4_GGC were set to 38035881; 38197134
Phenotypes for STR: ZFHX3_SCA4_GGC were set to spinocerebellar ataxia type 4 MONDO:0010847
Ataxia v1.146 Bryony Thompson Copied STR TBP_SCA17_CAG from panel Ataxia - adult onset
Ataxia v1.146 TBP_SCA17_CAG Bryony Thompson STR: TBP_SCA17_CAG was added
STR: TBP_SCA17_CAG was added to Ataxia. Sources: Expert Review Green,Expert list
STR tags were added to STR: TBP_SCA17_CAG.
Mode of inheritance for STR: TBP_SCA17_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: TBP_SCA17_CAG were set to 20301611; 29325606
Phenotypes for STR: TBP_SCA17_CAG were set to Spinocerebellar ataxia 17 MIM#607136
Ataxia v1.145 Bryony Thompson Copied STR RFC1_CANVAS_ANNGN from panel Ataxia - adult onset
Ataxia v1.145 RFC1_CANVAS_ANNGN Bryony Thompson STR: RFC1_CANVAS_ANNGN was added
STR: RFC1_CANVAS_ANNGN was added to Ataxia. Sources: Expert Review Green,Expert list
STR tags were added to STR: RFC1_CANVAS_ANNGN.
Mode of inheritance for STR: RFC1_CANVAS_ANNGN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for STR: RFC1_CANVAS_ANNGN were set to 30926972
Phenotypes for STR: RFC1_CANVAS_ANNGN were set to Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575
Ataxia v1.144 Bryony Thompson Copied STR PRNP_CJD_octapeptide from panel Ataxia - adult onset
Ataxia v1.144 PRNP_CJD_octapeptide Bryony Thompson STR: PRNP_CJD_octapeptide was added
STR: PRNP_CJD_octapeptide was added to Ataxia. Sources: Expert Review Green,Literature
Mode of inheritance for STR: PRNP_CJD_octapeptide was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: PRNP_CJD_octapeptide were set to 2159587; 20301407
Phenotypes for STR: PRNP_CJD_octapeptide were set to Creutzfeldt-Jakob disease MIM#123400; Gerstmann-Straussler disease MIM#137440
Ataxia v1.143 Bryony Thompson Copied STR PPP2R2B_SCA12_CAG from panel Ataxia - adult onset
Ataxia v1.143 PPP2R2B_SCA12_CAG Bryony Thompson STR: PPP2R2B_SCA12_CAG was added
STR: PPP2R2B_SCA12_CAG was added to Ataxia. Sources: Expert Review Green,Expert list
Mode of inheritance for STR: PPP2R2B_SCA12_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: PPP2R2B_SCA12_CAG were set to 27864267; 33811808
Phenotypes for STR: PPP2R2B_SCA12_CAG were set to Spinocerebellar ataxia 12 MIM#604326
Ataxia v1.142 Bryony Thompson Copied STR NOP56_SCA36_GGCCTG from panel Ataxia - adult onset
Ataxia v1.142 NOP56_SCA36_GGCCTG Bryony Thompson STR: NOP56_SCA36_GGCCTG was added
STR: NOP56_SCA36_GGCCTG was added to Ataxia. Sources: Expert Review Green,Expert list
STR tags were added to STR: NOP56_SCA36_GGCCTG.
Mode of inheritance for STR: NOP56_SCA36_GGCCTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: NOP56_SCA36_GGCCTG were set to 21683323
Phenotypes for STR: NOP56_SCA36_GGCCTG were set to Spinocerebellar ataxia 36 MIM#614153
Ataxia v1.142 Bryony Thompson Copied STR FXN_FRDA_GAA from panel Ataxia - adult onset
Ataxia v1.142 FXN_FRDA_GAA Bryony Thompson STR: FXN_FRDA_GAA was added
STR: FXN_FRDA_GAA was added to Ataxia. Sources: Expert Review Green,Expert list
STR tags were added to STR: FXN_FRDA_GAA.
Mode of inheritance for STR: FXN_FRDA_GAA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for STR: FXN_FRDA_GAA were set to 20301458
Phenotypes for STR: FXN_FRDA_GAA were set to Friedreich ataxia MIM#229300
Ataxia v1.141 Bryony Thompson Copied STR FMR1_FXTAS_CGG from panel Ataxia - adult onset
Ataxia v1.141 FMR1_FXTAS_CGG Bryony Thompson STR: FMR1_FXTAS_CGG was added
STR: FMR1_FXTAS_CGG was added to Ataxia. Sources: Expert Review Green,Expert list
STR tags were added to STR: FMR1_FXTAS_CGG.
Mode of inheritance for STR: FMR1_FXTAS_CGG 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 STR: FMR1_FXTAS_CGG were set to 23765048; 25227148
Phenotypes for STR: FMR1_FXTAS_CGG were set to Fragile X tremor/ataxia syndrome MIM#300623
Ataxia v1.140 Bryony Thompson Copied STR FGF14_SCA27B_GAA from panel Ataxia - adult onset
Ataxia v1.140 FGF14_SCA27B_GAA Bryony Thompson STR: FGF14_SCA27B_GAA was added
STR: FGF14_SCA27B_GAA was added to Ataxia. Sources: Expert Review Green,Literature
Mode of inheritance for STR: FGF14_SCA27B_GAA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: FGF14_SCA27B_GAA were set to 37165652; 36516086; 36493768
Phenotypes for STR: FGF14_SCA27B_GAA were set to Spinocerebellar ataxia type 27B MONDO:0012247; Spinocerebellar ataxia 50; late-onset cerebellar ataxias (LOCAs)
Ataxia v1.139 Bryony Thompson Copied STR DAB1_SCA37_ATTTC from panel Ataxia - adult onset
Ataxia v1.139 DAB1_SCA37_ATTTC Bryony Thompson STR: DAB1_SCA37_ATTTC was added
STR: DAB1_SCA37_ATTTC was added to Ataxia. Sources: Expert Review Green,Literature
STR tags were added to STR: DAB1_SCA37_ATTTC.
Mode of inheritance for STR: DAB1_SCA37_ATTTC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: DAB1_SCA37_ATTTC were set to 28686858; 31145571
Phenotypes for STR: DAB1_SCA37_ATTTC were set to Spinocerebellar ataxia 37 MIM#615945
Ataxia v1.138 Bryony Thompson Copied STR CSTB_EPM1_CCCCGCCCCGCG from panel Ataxia - adult onset
Ataxia v1.138 CSTB_EPM1_CCCCGCCCCGCG Bryony Thompson STR: CSTB_EPM1_CCCCGCCCCGCG was added
STR: CSTB_EPM1_CCCCGCCCCGCG was added to Ataxia. Sources: Expert Review Green,Literature
STR tags were added to STR: CSTB_EPM1_CCCCGCCCCGCG.
Mode of inheritance for STR: CSTB_EPM1_CCCCGCCCCGCG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for STR: CSTB_EPM1_CCCCGCCCCGCG were set to 29325606; 20301321
Phenotypes for STR: CSTB_EPM1_CCCCGCCCCGCG were set to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) MIM#254800
Fetal anomalies v1.477 COL10A1 Zornitza Stark Publications for gene: COL10A1 were set to 15880705; 31633898
Fetal anomalies v1.476 COL10A1 Zornitza Stark edited their review of gene: COL10A1: Changed publications: 15880705, 31633898, 31348255, 25542771
Fetal anomalies v1.476 COL10A1 Zornitza Stark changed review comment from: Note: Gene reviews also notes severe lethal phenotypes in recessive inheritance where parents were only mildly affected, however only 2 unrelated families reported to date (PMID: 31633898). Both haploinsufficiency and dominant-negative mechanisms have been suggested to cause disease (OMIM, PMID: 15880705, PMID: 31633898). “Pathogenic variants in COL10A1 are clustered in the C-terminal non-collagenous (NC1) domain, which contains motifs required for normal assembly of the collagen trimer. Both missense and truncating (frameshift and nonsense) variants in COL10A1 cause collagen X protein misfolding during protein synthesis, resulting in a failure of trimerization and aggregation within the endoplasmic reticulum (ER) of hypertrophic chondrocytes. Resultant ER stress, activation of the unfolded protein response, and reduced levels of functional type X collagen in the growth plate cause chondrodysplasia and development of the SMCD phenotype [Rajpar et al 2009].” -> from Gene Reviews (PMID: 31633898). Some pathogenic missense also reported in the N-terminal signal peptide (Decipher), however please note that to date, no Gly-X-Y substitutions in the collagen triple helix repeats have yet been reported, pathogenic or otherwise.; to: Note: Gene reviews also notes severe lethal phenotypes in recessive inheritance where parents were only mildly affected, however only 2 unrelated families reported to date (PMID: 31633898). Both haploinsufficiency and dominant-negative mechanisms have been suggested to cause disease (OMIM, PMID: 15880705, PMID: 31633898). “Pathogenic variants in COL10A1 are clustered in the C-terminal non-collagenous (NC1) domain, which contains motifs required for normal assembly of the collagen trimer. Both missense and truncating (frameshift and nonsense) variants in COL10A1 cause collagen X protein misfolding during protein synthesis, resulting in a failure of trimerization and aggregation within the endoplasmic reticulum (ER) of hypertrophic chondrocytes. Resultant ER stress, activation of the unfolded protein response, and reduced levels of functional type X collagen in the growth plate cause chondrodysplasia and development of the SMCD phenotype [Rajpar et al 2009].” -> from Gene Reviews (PMID: 31633898). Some pathogenic missense also reported in the N-terminal signal peptide (Decipher).

Note that unlike with other collagens, Gly-X-Y substitutions in the collagen triple helix repeats are very rarely reported as disease-causing, and may result in a milder phenotype (PMID 31348255; 25542771). These should be interpreted with caution.
Skeletal dysplasia v0.362 COL10A1 Zornitza Stark changed review comment from: Note: Gene reviews also notes severe lethal phenotypes in recessive inheritance where parents were only mildly affected, however only 2 unrelated families reported to date (PMID: 31633898). Both haploinsufficiency and dominant-negative mechanisms have been suggested to cause disease (OMIM, PMID: 15880705, PMID: 31633898). “Pathogenic variants in COL10A1 are clustered in the C-terminal non-collagenous (NC1) domain, which contains motifs required for normal assembly of the collagen trimer. Both missense and truncating (frameshift and nonsense) variants in COL10A1 cause collagen X protein misfolding during protein synthesis, resulting in a failure of trimerization and aggregation within the endoplasmic reticulum (ER) of hypertrophic chondrocytes. Resultant ER stress, activation of the unfolded protein response, and reduced levels of functional type X collagen in the growth plate cause chondrodysplasia and development of the SMCD phenotype [Rajpar et al 2009].” -> from Gene Reviews (PMID: 31633898). Some pathogenic missense also reported in the N-terminal signal peptide (Decipher).

Note that unlike with other collagens, Gly-X-Y substitutions in the collagen triple helix repeats are very rarely reported as disease-causing, and may result in a milder phenotype (PMID 31348255; 25542771). These should be interpreted with caution.; to: Note that unlike with other collagens, Gly-X-Y substitutions in the collagen triple helix repeats are very rarely reported as disease-causing, and may result in a milder phenotype (PMID 31348255; 25542771). These should be interpreted with caution.
Skeletal dysplasia v0.362 COL10A1 Zornitza Stark changed review comment from: Note: Gene reviews also notes severe lethal phenotypes in recessive inheritance where parents were only mildly affected, however only 2 unrelated families reported to date (PMID: 31633898). Both haploinsufficiency and dominant-negative mechanisms have been suggested to cause disease (OMIM, PMID: 15880705, PMID: 31633898). “Pathogenic variants in COL10A1 are clustered in the C-terminal non-collagenous (NC1) domain, which contains motifs required for normal assembly of the collagen trimer. Both missense and truncating (frameshift and nonsense) variants in COL10A1 cause collagen X protein misfolding during protein synthesis, resulting in a failure of trimerization and aggregation within the endoplasmic reticulum (ER) of hypertrophic chondrocytes. Resultant ER stress, activation of the unfolded protein response, and reduced levels of functional type X collagen in the growth plate cause chondrodysplasia and development of the SMCD phenotype [Rajpar et al 2009].” -> from Gene Reviews (PMID: 31633898). Some pathogenic missense also reported in the N-terminal signal peptide (Decipher), however please note that to date, no Gly-X-Y substitutions in the collagen triple helix repeats have yet been reported, pathogenic or otherwise.; to: Note: Gene reviews also notes severe lethal phenotypes in recessive inheritance where parents were only mildly affected, however only 2 unrelated families reported to date (PMID: 31633898). Both haploinsufficiency and dominant-negative mechanisms have been suggested to cause disease (OMIM, PMID: 15880705, PMID: 31633898). “Pathogenic variants in COL10A1 are clustered in the C-terminal non-collagenous (NC1) domain, which contains motifs required for normal assembly of the collagen trimer. Both missense and truncating (frameshift and nonsense) variants in COL10A1 cause collagen X protein misfolding during protein synthesis, resulting in a failure of trimerization and aggregation within the endoplasmic reticulum (ER) of hypertrophic chondrocytes. Resultant ER stress, activation of the unfolded protein response, and reduced levels of functional type X collagen in the growth plate cause chondrodysplasia and development of the SMCD phenotype [Rajpar et al 2009].” -> from Gene Reviews (PMID: 31633898). Some pathogenic missense also reported in the N-terminal signal peptide (Decipher).

Note that unlike with other collagens, Gly-X-Y substitutions in the collagen triple helix repeats are very rarely reported as disease-causing, and may result in a milder phenotype (PMID 31348255; 25542771). These should be interpreted with caution.
Skeletal dysplasia v0.362 COL10A1 Zornitza Stark edited their review of gene: COL10A1: Changed publications: 15880705, 31633898, 31348255, 25542771
Mendeliome v1.3734 COL10A1 Zornitza Stark Publications for gene: COL10A1 were set to 15880705; 31633898
Mendeliome v1.3733 COL10A1 Zornitza Stark edited their review of gene: COL10A1: Changed publications: 15880705, 31633898, 31348255, 25542771
Mendeliome v1.3733 COL10A1 Zornitza Stark changed review comment from: Note: Gene reviews also notes severe lethal phenotypes in recessive inheritance where parents were only mildly affected, however only 2 unrelated families reported to date (PMID: 31633898). Both haploinsufficiency and dominant-negative mechanisms have been suggested to cause disease (OMIM, PMID: 15880705, PMID: 31633898). “Pathogenic variants in COL10A1 are clustered in the C-terminal non-collagenous (NC1) domain, which contains motifs required for normal assembly of the collagen trimer. Both missense and truncating (frameshift and nonsense) variants in COL10A1 cause collagen X protein misfolding during protein synthesis, resulting in a failure of trimerization and aggregation within the endoplasmic reticulum (ER) of hypertrophic chondrocytes. Resultant ER stress, activation of the unfolded protein response, and reduced levels of functional type X collagen in the growth plate cause chondrodysplasia and development of the SMCD phenotype [Rajpar et al 2009].” -> from Gene Reviews (PMID: 31633898). Some pathogenic missense also reported in the N-terminal signal peptide (Decipher), however please note that to date, no Gly-X-Y substitutions in the collagen triple helix repeats have yet been reported, pathogenic or otherwise.; to: Note: Gene reviews also notes severe lethal phenotypes in recessive inheritance where parents were only mildly affected, however only 2 unrelated families reported to date (PMID: 31633898). Both haploinsufficiency and dominant-negative mechanisms have been suggested to cause disease (OMIM, PMID: 15880705, PMID: 31633898). “Pathogenic variants in COL10A1 are clustered in the C-terminal non-collagenous (NC1) domain, which contains motifs required for normal assembly of the collagen trimer. Both missense and truncating (frameshift and nonsense) variants in COL10A1 cause collagen X protein misfolding during protein synthesis, resulting in a failure of trimerization and aggregation within the endoplasmic reticulum (ER) of hypertrophic chondrocytes. Resultant ER stress, activation of the unfolded protein response, and reduced levels of functional type X collagen in the growth plate cause chondrodysplasia and development of the SMCD phenotype [Rajpar et al 2009].” -> from Gene Reviews (PMID: 31633898). Some pathogenic missense also reported in the N-terminal signal peptide (Decipher).

Note that unlike with other collagens, Gly-X-Y substitutions in the collagen triple helix repeats are very rarely reported as disease-causing, and may result in a milder phenotype (PMID 31348255; 25542771). These should be interpreted with caution.
Osteopetrosis v0.97 TBXAS1 Zornitza Stark Marked gene: TBXAS1 as ready
Osteopetrosis v0.97 TBXAS1 Zornitza Stark Gene: tbxas1 has been classified as Green List (High Evidence).
Osteopetrosis v0.97 PTDSS1 Zornitza Stark Marked gene: PTDSS1 as ready
Osteopetrosis v0.97 PTDSS1 Zornitza Stark Gene: ptdss1 has been classified as Green List (High Evidence).
Osteopetrosis v0.97 MITF Zornitza Stark Marked gene: MITF as ready
Osteopetrosis v0.97 MITF Zornitza Stark Gene: mitf has been classified as Green List (High Evidence).
Osteopetrosis v0.97 LRRK1 Zornitza Stark Marked gene: LRRK1 as ready
Osteopetrosis v0.97 LRRK1 Zornitza Stark Gene: lrrk1 has been classified as Green List (High Evidence).
Osteopetrosis v0.97 Zornitza Stark Copied gene TBXAS1 from panel Mendeliome
Osteopetrosis v0.97 TBXAS1 Zornitza Stark gene: TBXAS1 was added
gene: TBXAS1 was added to Osteopetrosis. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TBXAS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBXAS1 were set to 18264100; 27156553; 28868793; 33244729; 33595912; 36786374; 39220787; 39277773
Phenotypes for gene: TBXAS1 were set to Ghosal hematodiaphyseal syndrome, MIM# 231095
Mendeliome v1.3733 TBXAS1 Zornitza Stark Publications for gene: TBXAS1 were set to
Mendeliome v1.3732 TBXAS1 Zornitza Stark edited their review of gene: TBXAS1: Added comment: PMID 27156553, 28868793, 33244729, 33595912, 36786374, 39220787 and 39277773 together report 10 individuals from 8 unrelated families with biallelic loss‑of‑function variants in TBXAS1. Clinical features include anemia/pancytopenia, thrombocytopenia, bone‑marrow fibrosis, splenomegaly and markedly increased diaphyseal bone density, often responding to steroids.; Changed publications: 18264100, 27156553, 28868793, 33244729, 33595912, 36786374, 39220787, 39277773
Osteopetrosis v0.96 TBCE Zornitza Stark Marked gene: TBCE as ready
Osteopetrosis v0.96 TBCE Zornitza Stark Gene: tbce has been classified as Green List (High Evidence).
Osteopetrosis v0.96 TBCE Zornitza Stark Publications for gene: TBCE were set to
Osteopetrosis v0.95 TBCE Zornitza Stark Classified gene: TBCE as Green List (high evidence)
Osteopetrosis v0.95 TBCE Zornitza Stark Gene: tbce has been classified as Green List (High Evidence).
Osteopetrosis v0.94 TBCE Zornitza Stark edited their review of gene: TBCE: Changed publications: 26029652, 39911167, 40369764; Changed phenotypes: Kenny-Caffey syndrome, type 1, MIM# 244460
Osteopetrosis v0.94 TBCE Zornitza Stark gene: TBCE was added
gene: TBCE was added to Osteopetrosis. Sources: Literature
Mode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBCE were set to Kenny-Caffey syndrome, type 1, MIM# 244460
Review for gene: TBCE was set to GREEN
Added comment: Established gene-disease association. Condition is characterised by short stature, osteosclerosis with medullary stenosis of the long bones, episodic hypocalcemia, and ocular abnormalities.
Sources: Literature
Aminoacidopathy v1.138 PPM1K Andrew Coventry changed review comment from: New literature identifies 8 yo male child presenting with mild dysmorphic features, delayed speech, relative microcephaly, and overweight, all considered familial phenotypic traits.
Laboratory findings revealed mildly elevated plasma branched-chain amino acids, mild lactic acidemia, and a slight increase in urinary keto acids. Testing identified homozygous missense variant in PPM1K - c.925A>G p.(Ile309Val). No functional studies conducted. In silico predicts residual to have destabilising impact on protein.
3 individuals now reported in literature with mild findings related to MSUD BCAA levels. Adequate evidence to include in panel?; to: New literature identifies 8 yo male child presenting with mild dysmorphic features, delayed speech, relative microcephaly, and overweight, all considered familial phenotypic traits.
Laboratory findings revealed mildly elevated plasma branched-chain amino acids, mild lactic acidemia, and a slight increase in urinary keto acids. Testing identified homozygous missense variant in PPM1K - c.925A>G p.(Ile309Val). No functional studies conducted. In silico predicts AA substitution to have destabilising impact on protein.
3 individuals now reported in literature with mild findings related to MSUD BCAA levels. Adequate evidence to include in panel?
Aminoacidopathy v1.138 PPM1K Andrew Coventry reviewed gene: PPM1K: Rating: AMBER; Mode of pathogenicity: None; Publications: 36706222, 23086801, 40047138; Phenotypes: Maple syrup urine disease, mild variant, MIM#615135; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Osteopetrosis v0.93 Zornitza Stark Copied gene PTDSS1 from panel Mendeliome
Osteopetrosis v0.93 PTDSS1 Zornitza Stark gene: PTDSS1 was added
gene: PTDSS1 was added to Osteopetrosis. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PTDSS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PTDSS1 were set to 24241535; 29341480; 31403251
Phenotypes for gene: PTDSS1 were set to Lenz-Majewski hyperostotic dwarfism MIM#151050
Osteopetrosis v0.92 Zornitza Stark Copied gene MITF from panel Anophthalmia_Microphthalmia_Coloboma
Osteopetrosis v0.92 MITF Zornitza Stark gene: MITF was added
gene: MITF was added to Osteopetrosis. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MITF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MITF were set to 27889061; 32541011
Phenotypes for gene: MITF were set to COMMAD syndrome, MIM# 617306
Osteopetrosis v0.91 Zornitza Stark Copied gene LRRK1 from panel Skeletal dysplasia
Osteopetrosis v0.91 LRRK1 Zornitza Stark gene: LRRK1 was added
gene: LRRK1 was added to Osteopetrosis. Sources: Expert Review Green,Expert Review
Mode of inheritance for gene: LRRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRRK1 were set to 27829680; 27055475; 31571209; 32119750
Phenotypes for gene: LRRK1 were set to Osteosclerotic metaphyseal dysplasia (OSMD) (OMIM: 615198)
Osteopetrosis v0.90 LRP4 Zornitza Stark Marked gene: LRP4 as ready
Osteopetrosis v0.90 LRP4 Zornitza Stark Gene: lrp4 has been classified as Green List (High Evidence).
Osteopetrosis v0.90 LRP4 Zornitza Stark Classified gene: LRP4 as Green List (high evidence)
Osteopetrosis v0.90 LRP4 Zornitza Stark Gene: lrp4 has been classified as Green List (High Evidence).
Osteopetrosis v0.89 LRP4 Zornitza Stark gene: LRP4 was added
gene: LRP4 was added to Osteopetrosis. Sources: Literature
Mode of inheritance for gene: LRP4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRP4 were set to 32286743; 35052419; 40824295
Phenotypes for gene: LRP4 were set to Sclerosteosis 2, MIM# 614305
Review for gene: LRP4 was set to GREEN
Added comment: PMIDs 32286743, 35052419 and 40824295 report 3 individuals from 3 unrelated families with autosomal recessive loss‑of‑function LRP4 variants causing sclerosteosis (high bone mass, cranial hyperostosis, facial dysmorphism, syndactyly, hearing loss). Functional data include a mouse Lrp4 knock‑in model recapitulating the high bone‑mass phenotype.
Sources: Literature
Osteopetrosis v0.88 DVL1 Zornitza Stark Marked gene: DVL1 as ready
Osteopetrosis v0.88 DVL1 Zornitza Stark Gene: dvl1 has been classified as Green List (High Evidence).
Osteopetrosis v0.88 DVL1 Zornitza Stark Classified gene: DVL1 as Green List (high evidence)
Osteopetrosis v0.88 DVL1 Zornitza Stark Gene: dvl1 has been classified as Green List (High Evidence).
Osteopetrosis v0.87 DVL1 Zornitza Stark gene: DVL1 was added
gene: DVL1 was added to Osteopetrosis. Sources: Literature
Mode of inheritance for gene: DVL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DVL1 were set to 25817014
Phenotypes for gene: DVL1 were set to Robinow syndrome, autosomal dominant 2, MIM# 616331
Review for gene: DVL1 was set to GREEN
Added comment: Well established gene-disease association. Osteosclerosis/high bone mineral density are part of the phenotype.
Sources: Literature
Osteopetrosis v0.85 CSF1R Zornitza Stark Marked gene: CSF1R as ready
Osteopetrosis v0.85 CSF1R Zornitza Stark Gene: csf1r has been classified as Green List (High Evidence).
Osteopetrosis v0.85 AXIN1 Zornitza Stark Marked gene: AXIN1 as ready
Osteopetrosis v0.85 AXIN1 Zornitza Stark Gene: axin1 has been classified as Green List (High Evidence).
Osteopetrosis v0.85 AXIN1 Zornitza Stark Deleted their comment
Osteopetrosis v0.85 Zornitza Stark Copied gene CSF1R from panel Brain Calcification
Osteopetrosis v0.85 CSF1R Zornitza Stark gene: CSF1R was added
gene: CSF1R was added to Osteopetrosis. Sources: Expert Review Green,Victorian Clinical Genetics Services,Victorian Clinical Genetics Services
Mode of inheritance for gene: CSF1R was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSF1R were set to 30982609; 33749994; 34135456
Phenotypes for gene: CSF1R were set to Brain abnormalities, neurodegeneration, and dysosteosclerosis, MIM# 618476; BANDDOS
Osteopetrosis v0.84 Zornitza Stark Copied gene AXIN1 from panel Mendeliome
Osteopetrosis v0.84 AXIN1 Zornitza Stark gene: AXIN1 was added
gene: AXIN1 was added to Osteopetrosis. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AXIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AXIN1 were set to 9335612; 37582359
Phenotypes for gene: AXIN1 were set to Craniometadiaphyseal osteosclerosis with hip dysplasia, MIM# 620558
Skeletal dysplasia v0.362 ADAMTSL2 Zornitza Stark Phenotypes for gene: ADAMTSL2 were changed from Geleophysic dysplasia 1 MIM#231050 to Geleophysic dysplasia 1 MIM#231050; Lethal short-limb skeletal dysplasia Al-Gazali type (OMIM %601356)
Skeletal dysplasia v0.361 ADAMTSL2 Zornitza Stark Publications for gene: ADAMTSL2 were set to 33369194; 26879370; 21415077
Skeletal dysplasia v0.360 ADAMTSL2 Zornitza Stark edited their review of gene: ADAMTSL2: Added comment: PMID 36896612: 12 individuals reported with the severe end of the spectrum of ADAMTSL2-related skeletal dysplasia. The affected individuals presented with moderate intrauterine growth restriction, relative macrocephaly, hypertrichosis, large anterior fontanelle, short neck, short and stiff limbs with small hands and feet, severe brachydactyly, and generalized bone sclerosis with mild platyspondyly.; Changed publications: 33369194, 26879370, 21415077, 36896612; Changed phenotypes: Geleophysic dysplasia 1, MIM# 231050, Dermatosparaxic Ehlers Danlos syndrome, Lethal short-limb skeletal dysplasia Al-Gazali type (OMIM %601356)
Mendeliome v1.3732 ADAMTSL2 Zornitza Stark Phenotypes for gene: ADAMTSL2 were changed from Geleophysic dysplasia 1, MIM# 231050; Dermatosparaxic Ehlers Danlos syndrome to Geleophysic dysplasia 1, MIM# 231050; Dermatosparaxic Ehlers Danlos syndrome; Lethal short-limb skeletal dysplasia Al-Gazali type (OMIM %601356)
Mendeliome v1.3731 ADAMTSL2 Zornitza Stark edited their review of gene: ADAMTSL2: Added comment: PMID 36896612: 12 individuals reported with the severe end of the spectrum of ADAMTSL2-related skeletal dysplasia. The affected individuals presented with moderate intrauterine growth restriction, relative macrocephaly, hypertrichosis, large anterior fontanelle, short neck, short and stiff limbs with small hands and feet, severe brachydactyly, and generalized bone sclerosis with mild platyspondyly.; Changed publications: 33369194, 26879370, 21415077, 36896612; Changed phenotypes: Geleophysic dysplasia 1, MIM# 231050, Dermatosparaxic Ehlers Danlos syndrome, Lethal short-limb skeletal dysplasia Al-Gazali type (OMIM %601356)
Skeletal Dysplasia_Fetal v0.244 ADAMTSL2 Zornitza Stark Phenotypes for gene: ADAMTSL2 were changed from Geleophysic dysplasia 1-MIM#231050 to Geleophysic dysplasia 1-MIM#231050; Lethal short-limb skeletal dysplasia Al-Gazali type (OMIM %601356)
Skeletal Dysplasia_Fetal v0.243 ADAMTSL2 Zornitza Stark Publications for gene: ADAMTSL2 were set to 20301776; 21415077
Skeletal Dysplasia_Fetal v0.242 ADAMTSL2 Zornitza Stark reviewed gene: ADAMTSL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 36896612; Phenotypes: Lethal short-limb skeletal dysplasia Al-Gazali type (OMIM %601356); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Osteopetrosis v0.83 ADAMTSL2 Zornitza Stark Marked gene: ADAMTSL2 as ready
Osteopetrosis v0.83 ADAMTSL2 Zornitza Stark Gene: adamtsl2 has been classified as Green List (High Evidence).
Osteopetrosis v0.83 ADAMTSL2 Zornitza Stark Classified gene: ADAMTSL2 as Green List (high evidence)
Osteopetrosis v0.83 ADAMTSL2 Zornitza Stark Gene: adamtsl2 has been classified as Green List (High Evidence).
Osteopetrosis v0.82 ADAMTSL2 Zornitza Stark gene: ADAMTSL2 was added
gene: ADAMTSL2 was added to Osteopetrosis. Sources: Literature
Mode of inheritance for gene: ADAMTSL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTSL2 were set to 36896612
Phenotypes for gene: ADAMTSL2 were set to Lethal short-limb skeletal dysplasia Al-Gazali type (OMIM %601356)
Review for gene: ADAMTSL2 was set to GREEN
Added comment: 12 individuals reported with the severe end of the spectrum of ADAMTSL2-related skeletal dysplasia. The affected individuals presented with moderate intrauterine growth restriction, relative macrocephaly, hypertrichosis, large anterior fontanelle, short neck, short and stiff limbs with small hands and feet, severe brachydactyly, and generalized bone sclerosis with mild platyspondyly.
Sources: Literature
Clefting disorders v0.290 MED16 Lucy Spencer Phenotypes for gene: MED16 were changed from Neurodevelopmental disorder, MONDO:0700092, MED16-related to Guillouet-Gordon syndrome MIM#621220
Intellectual disability syndromic and non-syndromic v1.473 MED16 Lucy Spencer Phenotypes for gene: MED16 were changed from Neurodevelopmental disorder, MONDO:0700092, MED16-related to Guillouet-Gordon syndrome MIM#621220
Congenital Heart Defect v0.506 MED16 Lucy Spencer Phenotypes for gene: MED16 were changed from Neurodevelopmental disorder, MONDO:0700092, MED16-related to Guillouet-Gordon syndrome MIM#621220
Mendeliome v1.3731 MED16 Lucy Spencer Phenotypes for gene: MED16 were changed from complex neurodevelopmental disorder MONDO:0100038 to Guillouet-Gordon syndrome MIM#621220
Mendeliome v1.3730 MED16 Lucy Spencer reviewed gene: MED16: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Guillouet-Gordon syndrome MIM#621220; Mode of inheritance: None
Mendeliome v1.3730 CSNK1G1 Zornitza Stark edited their review of gene: CSNK1G1: Changed rating: AMBER
Mendeliome v1.3730 CSNK1G1 Zornitza Stark commented on gene: CSNK1G1: Gene-disease relationship reviewed again. No new literature in last 5 years. Only one LP assertion in ClinVar by 3billion. LoF variants in population. Downgrade to Amber.
Mendeliome v1.3730 CSNK1G1 Zornitza Stark Classified gene: CSNK1G1 as Amber List (moderate evidence)
Mendeliome v1.3730 CSNK1G1 Zornitza Stark Gene: csnk1g1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v1.472 CSNK1G1 Zornitza Stark Marked gene: CSNK1G1 as ready
Intellectual disability syndromic and non-syndromic v1.472 CSNK1G1 Zornitza Stark Added comment: Comment when marking as ready: Gene-disease relationship reviewed again. No new literature in last 5 years. Only one LP assertion in ClinVar by 3billion. LoF variants in population. Downgrade to Amber.
Intellectual disability syndromic and non-syndromic v1.472 CSNK1G1 Zornitza Stark Gene: csnk1g1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v1.472 CSNK1G1 Zornitza Stark Classified gene: CSNK1G1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v1.472 CSNK1G1 Zornitza Stark Gene: csnk1g1 has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia v1.128 FXN_FRDA_GAA Bryony Thompson Marked STR: FXN_FRDA_GAA as ready
Hereditary Spastic Paraplegia v1.128 FXN_FRDA_GAA Bryony Thompson Str: fxn_frda_gaa has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v1.128 FXN_FRDA_GAA Bryony Thompson Classified STR: FXN_FRDA_GAA as Green List (high evidence)
Hereditary Spastic Paraplegia v1.128 FXN_FRDA_GAA Bryony Thompson Str: fxn_frda_gaa has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v1.127 FXN_FRDA_GAA Bryony Thompson STR: FXN_FRDA_GAA was added
STR: FXN_FRDA_GAA was added to Hereditary Spastic Paraplegia. Sources: Expert List
Mode of inheritance for STR: FXN_FRDA_GAA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for STR: FXN_FRDA_GAA were set to 20301458; 8596916
Phenotypes for STR: FXN_FRDA_GAA were set to Friedreich ataxia MIM#229300
Review for STR: FXN_FRDA_GAA was set to GREEN
STR: FXN_FRDA_GAA was marked as clinically relevant
STR: FXN_FRDA_GAA was marked as current diagnostic
Added comment: NM_000144.4:c.165+1340GAA[X]
Loss of function is the mechanism of disease
Normal: 5-33 repeats
Mutable normal (premutation): 34-65 repeats
Borderline: 44-66 repeats
Full-penetrance: ≥66 repeats
Sources: Expert List
Hereditary Spastic Paraplegia v1.126 Bryony Thompson Copied gene ZFYVE27 from panel Hereditary Spastic Paraplegia - adult onset
Hereditary Spastic Paraplegia v1.126 ZFYVE27 Bryony Thompson gene: ZFYVE27 was added
gene: ZFYVE27 was added to Hereditary Spastic Paraplegia. Sources: Expert Review Red,Royal Melbourne Hospital
disputed tags were added to gene: ZFYVE27.
Mode of inheritance for gene: ZFYVE27 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZFYVE27 were set to 29980238; 18606302; 16826525
Phenotypes for gene: ZFYVE27 were set to Spastic paraplegia 33, autosomal dominant, MIM#610244
Hereditary Spastic Paraplegia v1.125 Bryony Thompson Copied gene WASHC5 from panel Hereditary Spastic Paraplegia - adult onset
Hereditary Spastic Paraplegia v1.125 WASHC5 Bryony Thompson gene: WASHC5 was added
gene: WASHC5 was added to Hereditary Spastic Paraplegia. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: WASHC5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: WASHC5 were set to 23455931; 17160902; 31814071; 26572744
Phenotypes for gene: WASHC5 were set to Spastic paraplegia 8, autosomal dominant, 603563; MONDO:0011339
Hereditary Spastic Paraplegia v1.124 Bryony Thompson Copied gene SPG21 from panel Hereditary Spastic Paraplegia - adult onset
Hereditary Spastic Paraplegia v1.124 SPG21 Bryony Thompson gene: SPG21 was added
gene: SPG21 was added to Hereditary Spastic Paraplegia. Sources: Expert Review Green,Royal Melbourne Hospital
new gene name tags were added to gene: SPG21.
Mode of inheritance for gene: SPG21 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPG21 were set to 14564668; 24451228; 28752238; 26978163
Phenotypes for gene: SPG21 were set to Mast syndrome, 248900; Spastic Paraplegia, autosomal recessive
Hereditary Spastic Paraplegia v1.123 Bryony Thompson Copied gene SLC25A15 from panel Hereditary Spastic Paraplegia - adult onset
Hereditary Spastic Paraplegia v1.123 SLC25A15 Bryony Thompson gene: SLC25A15 was added
gene: SLC25A15 was added to Hereditary Spastic Paraplegia. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A15 were set to 16376511; 22465082; 28592010
Phenotypes for gene: SLC25A15 were set to Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome MIM#238970
Hereditary Spastic Paraplegia v1.122 Bryony Thompson Copied gene PSEN1 from panel Hereditary Spastic Paraplegia - adult onset
Hereditary Spastic Paraplegia v1.122 PSEN1 Bryony Thompson gene: PSEN1 was added
gene: PSEN1 was added to Hereditary Spastic Paraplegia. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PSEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PSEN1 were set to 33274538
Phenotypes for gene: PSEN1 were set to Alzheimer disease, type 3, with spastic paraparesis and apraxia, MIM# 607822
Hereditary Spastic Paraplegia v1.121 Bryony Thompson Copied gene POLR3A from panel Hereditary Spastic Paraplegia - adult onset
Hereditary Spastic Paraplegia v1.121 POLR3A Bryony Thompson gene: POLR3A was added
gene: POLR3A was added to Hereditary Spastic Paraplegia. Sources: Expert Review Green,Royal Melbourne Hospital
deep intronic tags were added to gene: POLR3A.
Mode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLR3A were set to 31637490
Phenotypes for gene: POLR3A were set to Spastic ataxia
Hereditary Spastic Paraplegia v1.120 Bryony Thompson Copied gene LYST from panel Hereditary Spastic Paraplegia - adult onset
Hereditary Spastic Paraplegia v1.120 LYST Bryony Thompson gene: LYST was added
gene: LYST was added to Hereditary Spastic Paraplegia. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LYST were set to 26307451; 24521565
Phenotypes for gene: LYST were set to spastic paraplegia; Spastic paraplegia; Chediak-Higashi syndrome, 214500
Hereditary Spastic Paraplegia v1.119 Bryony Thompson Copied gene KCNA2 from panel Hereditary Spastic Paraplegia - adult onset
Hereditary Spastic Paraplegia v1.119 KCNA2 Bryony Thompson gene: KCNA2 was added
gene: KCNA2 was added to Hereditary Spastic Paraplegia. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KCNA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNA2 were set to Hereditary spastic paraplegia and ataxia
Hereditary Spastic Paraplegia v1.118 Bryony Thompson Copied gene GJA1 from panel Hereditary Spastic Paraplegia - adult onset
Hereditary Spastic Paraplegia v1.118 GJA1 Bryony Thompson gene: GJA1 was added
gene: GJA1 was added to Hereditary Spastic Paraplegia. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: GJA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GJA1 were set to 31023660
Phenotypes for gene: GJA1 were set to Hereditary spastic paraplegia; Oculodentodigital dysplasia, 164200, Oculodentodigital dysplasia, autosomal recessive, 257850
Hereditary Spastic Paraplegia v1.117 Bryony Thompson Copied gene GBE1 from panel Hereditary Spastic Paraplegia - adult onset
Hereditary Spastic Paraplegia v1.117 GBE1 Bryony Thompson gene: GBE1 was added
gene: GBE1 was added to Hereditary Spastic Paraplegia. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GBE1 were set to 23034915
Phenotypes for gene: GBE1 were set to Polyglucosan body disease, adult form MIM#263570
Hereditary Spastic Paraplegia v1.116 Bryony Thompson Copied gene GALC from panel Hereditary Spastic Paraplegia - adult onset
Hereditary Spastic Paraplegia v1.116 GALC Bryony Thompson gene: GALC was added
gene: GALC was added to Hereditary Spastic Paraplegia. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALC were set to 9272171; 11971051; 22959700; 26396125; 26915362; 28547031; 31185936; 32064984
Phenotypes for gene: GALC were set to Krabbe disease MIM#245200
Hereditary Spastic Paraplegia v1.115 Bryony Thompson Copied gene FXN from panel Hereditary Spastic Paraplegia - adult onset
Hereditary Spastic Paraplegia v1.115 FXN Bryony Thompson gene: FXN was added
gene: FXN was added to Hereditary Spastic Paraplegia. Sources: Expert Review Green,Royal Melbourne Hospital
SV/CNV, STR tags were added to gene: FXN.
Mode of inheritance for gene: FXN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FXN were set to Friedreich ataxia, 229300
Hereditary Spastic Paraplegia v1.114 Bryony Thompson Copied gene FBXO7 from panel Hereditary Spastic Paraplegia - adult onset
Hereditary Spastic Paraplegia v1.114 FBXO7 Bryony Thompson gene: FBXO7 was added
gene: FBXO7 was added to Hereditary Spastic Paraplegia. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: FBXO7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FBXO7 were set to 18513678; 19038853
Phenotypes for gene: FBXO7 were set to Parkinson disease 15, autosomal recessive MIM#260300
Hereditary Spastic Paraplegia v1.113 Bryony Thompson Copied gene DNM2 from panel Hereditary Spastic Paraplegia - adult onset
Hereditary Spastic Paraplegia v1.113 DNM2 Bryony Thompson gene: DNM2 was added
gene: DNM2 was added to Hereditary Spastic Paraplegia. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: DNM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DNM2 were set to 26517984
Phenotypes for gene: DNM2 were set to Complicated hereditary spastic paraplegia
Hereditary Spastic Paraplegia v1.112 Bryony Thompson Copied gene CYP27A1 from panel Hereditary Spastic Paraplegia - adult onset
Hereditary Spastic Paraplegia v1.112 CYP27A1 Bryony Thompson gene: CYP27A1 was added
gene: CYP27A1 was added to Hereditary Spastic Paraplegia. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis, 213700; MONDO:0008948; progressive lower extremity spasticity,often disproportionate to any degree of weakness
Hereditary Spastic Paraplegia v1.111 Bryony Thompson Copied gene CPT1C from panel Hereditary Spastic Paraplegia - adult onset
Hereditary Spastic Paraplegia v1.111 CPT1C Bryony Thompson gene: CPT1C was added
gene: CPT1C was added to Hereditary Spastic Paraplegia. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CPT1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CPT1C were set to 25751282; 30911584; 30564185; 23973755
Phenotypes for gene: CPT1C were set to Spastic paraplegia 73, autosomal dominant, MIM#616282; MONDO:0014568
Mendeliome v1.3729 Bryony Thompson Added reviews for gene COQ7 from panel Hereditary Spastic Paraplegia
Hereditary Spastic Paraplegia v1.110 COQ7 Bryony Thompson Classified gene: COQ7 as Green List (high evidence)
Hereditary Spastic Paraplegia v1.110 COQ7 Bryony Thompson Gene: coq7 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v1.109 COQ7 Bryony Thompson reviewed gene: COQ7: Rating: GREEN; Mode of pathogenicity: None; Publications: 39080983, 38439593, 36854932; Phenotypes: primary coenzyme Q10 deficiency 8 MONDO:0014754; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary Spastic Paraplegia v1.109 Bryony Thompson Copied gene COQ7 from panel Hereditary Spastic Paraplegia - adult onset
Hereditary Spastic Paraplegia v1.109 COQ7 Bryony Thompson gene: COQ7 was added
gene: COQ7 was added to Hereditary Spastic Paraplegia. Sources: Literature
Mode of inheritance for gene: COQ7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ7 were set to PMID: 33215859
Phenotypes for gene: COQ7 were set to Hereditary spastic paraplegia, COQ7-related (MONDO#0019064)
Hereditary Spastic Paraplegia v1.108 Bryony Thompson Copied gene CAPN1 from panel Hereditary Spastic Paraplegia - adult onset
Hereditary Spastic Paraplegia v1.108 CAPN1 Bryony Thompson gene: CAPN1 was added
gene: CAPN1 was added to Hereditary Spastic Paraplegia. Sources: Expert Review Green,Royal Melbourne Hospital,Expert list
Mode of inheritance for gene: CAPN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAPN1 were set to 27153400
Phenotypes for gene: CAPN1 were set to Spastic paraplegia 76 autosomal recessive, 616907; MONDO:0014827
Hereditary Spastic Paraplegia v1.107 Bryony Thompson Copied gene BICD2 from panel Hereditary Spastic Paraplegia - adult onset
Hereditary Spastic Paraplegia v1.107 BICD2 Bryony Thompson gene: BICD2 was added
gene: BICD2 was added to Hereditary Spastic Paraplegia. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: BICD2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: BICD2 were set to 23664120; 25497877; 24482476
Phenotypes for gene: BICD2 were set to Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM#615290; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM#618291
Hereditary Spastic Paraplegia v1.106 Bryony Thompson Copied gene ATP2B4 from panel Hereditary Spastic Paraplegia - adult onset
Hereditary Spastic Paraplegia v1.106 ATP2B4 Bryony Thompson gene: ATP2B4 was added
gene: ATP2B4 was added to Hereditary Spastic Paraplegia. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: ATP2B4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP2B4 were set to 29691679; 25798335; 25119969
Phenotypes for gene: ATP2B4 were set to Pure and complicated hereditary spastic paraplegia
Hereditary Spastic Paraplegia v1.105 Bryony Thompson Panel name changed from Hereditary Spastic Paraplegia - paediatric to Hereditary Spastic Paraplegia
Hereditary Spastic Paraplegia v1.104 Bryony Thompson Copied gene ATP13A2 from panel Hereditary Spastic Paraplegia - adult onset
Hereditary Spastic Paraplegia v1.104 ATP13A2 Bryony Thompson gene: ATP13A2 was added
gene: ATP13A2 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP13A2 were set to 27217339; 28137957
Phenotypes for gene: ATP13A2 were set to Spastic paraplegia 78, autosomal recessive, 617225; Kufor-Rakeb syndrome, 606693 AR; complicated hereditary spastic paraplegia; Adult-onset lower-limb predominant spastic paraparesis
Callosome v0.575 ABI2 Zornitza Stark Marked gene: ABI2 as ready
Callosome v0.575 ABI2 Zornitza Stark Gene: abi2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.296 ABI2 Zornitza Stark Marked gene: ABI2 as ready
Genetic Epilepsy v1.296 ABI2 Zornitza Stark Gene: abi2 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3728 ABI2 Zornitza Stark Marked gene: ABI2 as ready
Mendeliome v1.3728 ABI2 Zornitza Stark Gene: abi2 has been classified as Amber List (Moderate Evidence).
Macrocephaly_Megalencephaly v0.153 ABI2 Zornitza Stark Marked gene: ABI2 as ready
Macrocephaly_Megalencephaly v0.153 ABI2 Zornitza Stark Gene: abi2 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3728 Zornitza Stark Copied gene ABI2 from panel Intellectual disability syndromic and non-syndromic
Mendeliome v1.3728 ABI2 Zornitza Stark gene: ABI2 was added
gene: ABI2 was added to Mendeliome. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: ABI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ABI2 were set to 40475134
Phenotypes for gene: ABI2 were set to Neurodevelopmental disorder, MONDO:0700092, ABI2-related
Macrocephaly_Megalencephaly v0.153 Zornitza Stark Copied gene ABI2 from panel Intellectual disability syndromic and non-syndromic
Macrocephaly_Megalencephaly v0.153 ABI2 Zornitza Stark gene: ABI2 was added
gene: ABI2 was added to Macrocephaly_Megalencephaly. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: ABI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ABI2 were set to 40475134
Phenotypes for gene: ABI2 were set to Neurodevelopmental disorder, MONDO:0700092, ABI2-related
Genetic Epilepsy v1.296 Zornitza Stark Copied gene ABI2 from panel Intellectual disability syndromic and non-syndromic
Genetic Epilepsy v1.296 ABI2 Zornitza Stark gene: ABI2 was added
gene: ABI2 was added to Genetic Epilepsy. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: ABI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ABI2 were set to 40475134
Phenotypes for gene: ABI2 were set to Neurodevelopmental disorder, MONDO:0700092, ABI2-related
Callosome v0.575 Zornitza Stark Copied gene ABI2 from panel Intellectual disability syndromic and non-syndromic
Callosome v0.575 ABI2 Zornitza Stark gene: ABI2 was added
gene: ABI2 was added to Callosome. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: ABI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ABI2 were set to 40475134
Phenotypes for gene: ABI2 were set to Neurodevelopmental disorder, MONDO:0700092, ABI2-related
Intellectual disability syndromic and non-syndromic v1.471 ABI2 Zornitza Stark Marked gene: ABI2 as ready
Intellectual disability syndromic and non-syndromic v1.471 ABI2 Zornitza Stark Gene: abi2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v1.471 ABI2 Zornitza Stark Classified gene: ABI2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v1.471 ABI2 Zornitza Stark Gene: abi2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v1.470 ABI2 Zornitza Stark changed review comment from: Preprint reporting eight unrelated individuals with severe NDD and de novo heterozygous ABI2 missense variants, including a recurrent p.Tyr491Cys in the highly conserved SH3 domain in six individuals. Key clinical features included moderate to severe motor delay, absent or delayed expressive language, intellectual disability, seizures, autistic traits, as well as macrocephaly, thinning of the corpus callosum, and white matter signal abnormalities.
Sources: Literature; to: Preprint reporting eight unrelated individuals with severe NDD and de novo heterozygous ABI2 missense variants, including a recurrent p.Tyr491Cys in the highly conserved SH3 domain in six individuals. Key clinical features included moderate to severe motor delay, absent or delayed expressive language, intellectual disability, seizures, autistic traits, as well as macrocephaly, thinning of the corpus callosum, and white matter signal abnormalities.

Amber as still a preprint. Additional individual with recurrent variant identified internally.

Sources: Literature
Intellectual disability syndromic and non-syndromic v1.470 ABI2 Zornitza Stark gene: ABI2 was added
gene: ABI2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: ABI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ABI2 were set to 40475134
Phenotypes for gene: ABI2 were set to Neurodevelopmental disorder, MONDO:0700092, ABI2-related
Review for gene: ABI2 was set to AMBER
Added comment: Preprint reporting eight unrelated individuals with severe NDD and de novo heterozygous ABI2 missense variants, including a recurrent p.Tyr491Cys in the highly conserved SH3 domain in six individuals. Key clinical features included moderate to severe motor delay, absent or delayed expressive language, intellectual disability, seizures, autistic traits, as well as macrocephaly, thinning of the corpus callosum, and white matter signal abnormalities.
Sources: Literature
Brain Calcification v2.0 Zornitza Stark promoted panel to version 2.0
Ataxia v1.137 CACNA1A_SCA6_CAG Bryony Thompson Marked STR: CACNA1A_SCA6_CAG as ready
Ataxia v1.137 CACNA1A_SCA6_CAG Bryony Thompson Str: cacna1a_sca6_cag has been classified as Green List (High Evidence).
Ataxia v1.137 CACNA1A_SCA6_CAG Bryony Thompson Classified STR: CACNA1A_SCA6_CAG as Green List (high evidence)
Ataxia v1.137 CACNA1A_SCA6_CAG Bryony Thompson Str: cacna1a_sca6_cag has been classified as Green List (High Evidence).
Ataxia v1.136 CACNA1A_SCA6_CAG Bryony Thompson STR: CACNA1A_SCA6_CAG was added
STR: CACNA1A_SCA6_CAG was added to Ataxia. Sources: Expert List
Mode of inheritance for STR: CACNA1A_SCA6_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: CACNA1A_SCA6_CAG were set to 20301319; 29325606
Phenotypes for STR: CACNA1A_SCA6_CAG were set to Spinocerebellar ataxia 6 MIM#183086; Episodic ataxia, type 2 MIM#108500
Review for STR: CACNA1A_SCA6_CAG was set to GREEN
STR: CACNA1A_SCA6_CAG was marked as clinically relevant
STR: CACNA1A_SCA6_CAG was marked as current diagnostic
Added comment: NM_023035.2:c.6929_6931CAG[X]
PolyQ expansion alters gene binding, impairs transcription factor function, and is toxic to cells expressing the α1ACT – effects consistent with a loss of function
Normal: ≤18 repeats
Questionable significance: 19 CAG repeats
Full penetrance: ≥20 repeats
Sources: Expert List
Ataxia v1.135 BEAN1_SCA31_TGGAA Bryony Thompson Marked STR: BEAN1_SCA31_TGGAA as ready
Ataxia v1.135 BEAN1_SCA31_TGGAA Bryony Thompson Str: bean1_sca31_tggaa has been classified as Green List (High Evidence).
Ataxia v1.135 BEAN1_SCA31_TGGAA Bryony Thompson Classified STR: BEAN1_SCA31_TGGAA as Green List (high evidence)
Ataxia v1.135 BEAN1_SCA31_TGGAA Bryony Thompson Str: bean1_sca31_tggaa has been classified as Green List (High Evidence).
Ataxia v1.134 BEAN1_SCA31_TGGAA Bryony Thompson STR: BEAN1_SCA31_TGGAA was added
STR: BEAN1_SCA31_TGGAA was added to Ataxia. Sources: Expert List
Mode of inheritance for STR: BEAN1_SCA31_TGGAA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: BEAN1_SCA31_TGGAA were set to 19878914; 31755042
Phenotypes for STR: BEAN1_SCA31_TGGAA were set to Spinocerebellar ataxia 31 MIM#117210
Review for STR: BEAN1_SCA31_TGGAA was set to GREEN
STR: BEAN1_SCA31_TGGAA was marked as clinically relevant
STR: BEAN1_SCA31_TGGAA was marked as current diagnostic
Added comment: Complex repeat insertion (TGGAA)n, (TAGAA)n, (TAAAA)n, (TAAAATAGAA)n, TGGAA is present only in affected cases. Sequencing showed that the insertion consisted of a preceding TCAC sequence, and 3 pentanucleotide repeat components (TGGAA)n, (TAGAA)n, and (TAAAA)n in all patients tested.
2.5-3.8 KB insertion is associated with disease and RNA toxicity expected to be mechanism of disease
Normal and pathogenic cut-offs are based on animal model experiments (PMID: 31755042)
Sources: Expert List
Ataxia v1.133 ATXN8OS_SCA8_CTG Bryony Thompson Marked STR: ATXN8OS_SCA8_CTG as ready
Ataxia v1.133 ATXN8OS_SCA8_CTG Bryony Thompson Str: atxn8os_sca8_ctg has been classified as Green List (High Evidence).
Ataxia v1.133 ATXN8OS_SCA8_CTG Bryony Thompson Classified STR: ATXN8OS_SCA8_CTG as Green List (high evidence)
Ataxia v1.133 ATXN8OS_SCA8_CTG Bryony Thompson Str: atxn8os_sca8_ctg has been classified as Green List (High Evidence).
Ataxia v1.132 ATXN8OS_SCA8_CTG Bryony Thompson STR: ATXN8OS_SCA8_CTG was added
STR: ATXN8OS_SCA8_CTG was added to Ataxia. Sources: Expert List
Mode of inheritance for STR: ATXN8OS_SCA8_CTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: ATXN8OS_SCA8_CTG were set to 20301445
Phenotypes for STR: ATXN8OS_SCA8_CTG were set to Spinocerebellar ataxia 8 MIM#608768
Review for STR: ATXN8OS_SCA8_CTG was set to GREEN
STR: ATXN8OS_SCA8_CTG was marked as clinically relevant
STR: ATXN8OS_SCA8_CTG was marked as current diagnostic
Added comment: NR_002717.2:n.1073CTA[X]1103CTG[X]
ATXN8 (CAG)n(TAG)n vs ATXN8OS on opposite strand (CTA)n(CTG)n
Both toxic RNA and toxic protein gain of function mechanisms likely contribute to disease mechanism
Normal alleles: 15-50 combined (CTA·TAG)n(CTG·CAG)n repeats
Alleles of questionable significance: 50-70 repeats.
Reduced penetrance allele size: found for (CTA·TAG)n(CTG·CAG)n repeats of all sizes
Higher penetrance allele size: ≥80 (CTA·TAG)n(CTG·CAG)n repeats most often seen in individuals with ataxia; however, repeat sizes ranging from 71 to more than 1300 repeats have been found both in individuals who develop ataxia and in those who do not.
Sources: Expert List
Ataxia v1.131 ATXN7_SCA7_CAG Bryony Thompson Marked STR: ATXN7_SCA7_CAG as ready
Ataxia v1.131 ATXN7_SCA7_CAG Bryony Thompson Str: atxn7_sca7_cag has been classified as Green List (High Evidence).
Ataxia v1.131 ATXN7_SCA7_CAG Bryony Thompson Classified STR: ATXN7_SCA7_CAG as Green List (high evidence)
Ataxia v1.131 ATXN7_SCA7_CAG Bryony Thompson Str: atxn7_sca7_cag has been classified as Green List (High Evidence).
Ataxia v1.130 ATXN7_SCA7_CAG Bryony Thompson STR: ATXN7_SCA7_CAG was added
STR: ATXN7_SCA7_CAG was added to Ataxia. Sources: Expert List
Mode of inheritance for STR: ATXN7_SCA7_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: ATXN7_SCA7_CAG were set to 29325606; 20301433
Phenotypes for STR: ATXN7_SCA7_CAG were set to Spinocerebellar ataxia 7 MIM#164500
Review for STR: ATXN7_SCA7_CAG was set to GREEN
STR: ATXN7_SCA7_CAG was marked as clinically relevant
STR: ATXN7_SCA7_CAG was marked as current diagnostic
Added comment: NM_000333​.3:c.89_91AGC[X]
Gain of function mechanism of disease
Normal: ≤27 repeats
Mutable normal: 28-33 repeats, meiotically unstable, but not associated with an abnormal phenotype.
Pathogenic reduced penetrance: 34-36 repeats, when manifestations occur, they are more likely to be later onset and milder than average
Pathogenic full penetrance: 37-460 repeats
Sources: Expert List
Ataxia v1.129 ATXN3_SCA3_CAG Bryony Thompson Marked STR: ATXN3_SCA3_CAG as ready
Ataxia v1.129 ATXN3_SCA3_CAG Bryony Thompson Str: atxn3_sca3_cag has been classified as Green List (High Evidence).
Ataxia v1.129 ATXN3_SCA3_CAG Bryony Thompson Classified STR: ATXN3_SCA3_CAG as Green List (high evidence)
Ataxia v1.129 ATXN3_SCA3_CAG Bryony Thompson Str: atxn3_sca3_cag has been classified as Green List (High Evidence).
Ataxia v1.128 ATXN3_SCA3_CAG Bryony Thompson STR: ATXN3_SCA3_CAG was added
STR: ATXN3_SCA3_CAG was added to Ataxia. Sources: Expert List
Mode of inheritance for STR: ATXN3_SCA3_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: ATXN3_SCA3_CAG were set to 20301375; 29325606
Phenotypes for STR: ATXN3_SCA3_CAG were set to Machado-Joseph disease MIM#109150; Spinocerebellar ataxia type 3
Review for STR: ATXN3_SCA3_CAG was set to GREEN
STR: ATXN3_SCA3_CAG was marked as clinically relevant
STR: ATXN3_SCA3_CAG was marked as current diagnostic
Added comment: NM_004993​.5:c.886_888CAG[X]
Toxic aggregation and mislocalization in neurons is mechanism of disease
Normal: ≤44 repeats, mostly <31 repeats
Intermediate: 45-59 repeats, some intermediate alleles are not associated with classic clinical features of SCA3
Pathogenic (full penetrance): ≥60 repeats
Sources: Expert List
Ataxia v1.127 ATXN1_SCA1_CAG Bryony Thompson Marked STR: ATXN1_SCA1_CAG as ready
Ataxia v1.127 ATXN1_SCA1_CAG Bryony Thompson Str: atxn1_sca1_cag has been classified as Green List (High Evidence).
Ataxia v1.127 ATXN1_SCA1_CAG Bryony Thompson Classified STR: ATXN1_SCA1_CAG as Green List (high evidence)
Ataxia v1.127 ATXN1_SCA1_CAG Bryony Thompson Str: atxn1_sca1_cag has been classified as Green List (High Evidence).
Ataxia v1.126 ATXN1_SCA1_CAG Bryony Thompson STR: ATXN1_SCA1_CAG was added
STR: ATXN1_SCA1_CAG was added to Ataxia. Sources: Expert List
Mode of inheritance for STR: ATXN1_SCA1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: ATXN1_SCA1_CAG were set to 29325606; 20301363
Phenotypes for STR: ATXN1_SCA1_CAG were set to Spinocerebellar ataxia 1 MIM#164400
Review for STR: ATXN1_SCA1_CAG was set to GREEN
STR: ATXN1_SCA1_CAG was marked as clinically relevant
STR: ATXN1_SCA1_CAG was marked as current diagnostic
Added comment: NM_000332.3:c.589_591CAG[X]
Toxic protein aggregation is mechanism of disease
Normal: ≤35 CAG repeats or 36-44 CAG repeats with CAT interruptions
Mutable normal (intermediate): 36-38 CAG repeats without CAT interruptions
Full-penetrance: ≥39 CAG repeats without CAT interruptions or ≥46 uninterrupted CAG repeats with CAT interruptions and additional CAGs
Sources: Expert List
Ataxia v1.125 ATXN10_SCA10_ATTCT Bryony Thompson Marked STR: ATXN10_SCA10_ATTCT as ready
Ataxia v1.125 ATXN10_SCA10_ATTCT Bryony Thompson Str: atxn10_sca10_attct has been classified as Green List (High Evidence).
Ataxia v1.125 ATXN10_SCA10_ATTCT Bryony Thompson Classified STR: ATXN10_SCA10_ATTCT as Green List (high evidence)
Ataxia v1.125 ATXN10_SCA10_ATTCT Bryony Thompson Str: atxn10_sca10_attct has been classified as Green List (High Evidence).
Ataxia v1.124 ATXN10_SCA10_ATTCT Bryony Thompson STR: ATXN10_SCA10_ATTCT was added
STR: ATXN10_SCA10_ATTCT was added to Ataxia. Sources: Expert List
Mode of inheritance for STR: ATXN10_SCA10_ATTCT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: ATXN10_SCA10_ATTCT were set to 20301354
Phenotypes for STR: ATXN10_SCA10_ATTCT were set to Spinocerebellar ataxia 10 MIM#603516
Review for STR: ATXN10_SCA10_ATTCT was set to GREEN
STR: ATXN10_SCA10_ATTCT was marked as clinically relevant
STR: ATXN10_SCA10_ATTCT was marked as current diagnostic
Added comment: NM_013236​.2:c.1430+54822ATTCT[X]
Toxic RNA gain-of-function mechanism of disease
Normal alleles: 10-32 ATTCT repeats
Alleles of questionable significance: 33-280 ATTCT repeats
Reduced-penetrance alleles: 33-850 repeats
Full-penetrance alleles: 800-4,500 ATTCT repeats
Sources: Expert List
Ataxia v1.123 ATN1_DRPLA_CAG Bryony Thompson Marked STR: ATN1_DRPLA_CAG as ready
Ataxia v1.123 ATN1_DRPLA_CAG Bryony Thompson Str: atn1_drpla_cag has been classified as Green List (High Evidence).
Ataxia v1.123 ATN1_DRPLA_CAG Bryony Thompson Classified STR: ATN1_DRPLA_CAG as Green List (high evidence)
Ataxia v1.123 ATN1_DRPLA_CAG Bryony Thompson Str: atn1_drpla_cag has been classified as Green List (High Evidence).
Ataxia v1.122 ATN1_DRPLA_CAG Bryony Thompson STR: ATN1_DRPLA_CAG was added
STR: ATN1_DRPLA_CAG was added to Ataxia. Sources: Expert List
Mode of inheritance for STR: ATN1_DRPLA_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: ATN1_DRPLA_CAG were set to 29325606; 20301664
Phenotypes for STR: ATN1_DRPLA_CAG were set to Dentatorubral-pallidoluysian atrophy MIM#125370
Review for STR: ATN1_DRPLA_CAG was set to GREEN
STR: ATN1_DRPLA_CAG was marked as clinically relevant
STR: ATN1_DRPLA_CAG was marked as current diagnostic
Added comment: NM_001007026​.1:c.1462_1464CAG[X]
Toxic gain of function mechanism of disease
Benign: ≤35 repeats
Mutable normal: 20-35 repeats
Pathogenic: ≥48 repeats
Age <20 years: ≥63 repeats - ataxia, myoclonus, seizures, progressive intellectual deterioration
Age 21-40 years 61-69 repeats, >40 years 48-67 repeats: ataxia, choreoathetosis, dementia, psychiatric disturbance
Sources: Expert list
Sources: Expert List
Ataxia v1.121 Bryony Thompson Copied gene ZFYVE26 from panel Ataxia - adult onset
Ataxia v1.121 ZFYVE26 Bryony Thompson gene: ZFYVE26 was added
gene: ZFYVE26 was added to Ataxia. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZFYVE26 were set to 24367272; 18394578
Phenotypes for gene: ZFYVE26 were set to Autosomal recessive spastic paraplegia 15, 270700
Ataxia v1.120 Bryony Thompson Added reviews for gene UBR4 from panel Episodic Ataxia
Ataxia v1.119 Bryony Thompson Copied gene VWA3B from panel Ataxia - adult onset
Ataxia v1.119 VWA3B Bryony Thompson gene: VWA3B was added
gene: VWA3B was added to Ataxia. Sources: Expert Review Red,Royal Melbourne Hospital,GeneReviews
Mode of inheritance for gene: VWA3B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VWA3B were set to 26157035
Phenotypes for gene: VWA3B were set to ?Spinocerebellar ataxia, autosomal recessive 22
Ataxia v1.118 Bryony Thompson Copied gene VAMP1 from panel Ataxia - adult onset
Ataxia v1.118 VAMP1 Bryony Thompson gene: VAMP1 was added
gene: VAMP1 was added to Ataxia. Sources: Expert Review Amber,Royal Melbourne Hospital
founder tags were added to gene: VAMP1.
Mode of inheritance for gene: VAMP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: VAMP1 were set to 22958904
Phenotypes for gene: VAMP1 were set to Autosomal dominant spastic ataxia 1, 108600; Spastic ataxia 1, autosomal dominant, 108600
Ataxia v1.117 Bryony Thompson Copied gene TTBK2 from panel Ataxia - adult onset
Ataxia v1.117 TTBK2 Bryony Thompson gene: TTBK2 was added
gene: TTBK2 was added to Ataxia. Sources: Expert Review Green,Royal Melbourne Hospital,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TTBK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TTBK2 were set to Spinocerebellar ataxia 11, 604432; Spinocerebellar ataxia 11
Ataxia v1.116 Bryony Thompson Copied gene TSEN54 from panel Ataxia - adult onset
Ataxia v1.116 TSEN54 Bryony Thompson gene: TSEN54 was added
gene: TSEN54 was added to Ataxia. Sources: Expert list,Expert Review Red,Expert list
Mode of inheritance for gene: TSEN54 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TSEN54 were set to 24938831
Phenotypes for gene: TSEN54 were set to adult-onset cerebellar ataxia
Ataxia v1.115 Bryony Thompson Copied gene TRPC3 from panel Ataxia - adult onset
Ataxia v1.115 TRPC3 Bryony Thompson gene: TRPC3 was added
gene: TRPC3 was added to Ataxia. Sources: Expert Review Amber,Royal Melbourne Hospital,GeneReviews
Mode of inheritance for gene: TRPC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TRPC3 were set to 25477146; 26112884
Ataxia v1.114 Bryony Thompson Copied gene TGM6 from panel Ataxia - adult onset
Ataxia v1.114 TGM6 Bryony Thompson gene: TGM6 was added
gene: TGM6 was added to Ataxia. Sources: Expert Review Red,Expert Review Red,Royal Melbourne Hospital,Victorian Clinical Genetics Services
refuted tags were added to gene: TGM6.
Mode of inheritance for gene: TGM6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TGM6 were set to 25253745; 21106500; 28934387; 22554020; 30670339; 29053796; 23206699
Phenotypes for gene: TGM6 were set to Spinocerebellar ataxia 35, 613908; Spinocerebellar ataxia 35
Ataxia v1.113 Bryony Thompson Copied gene TDP1 from panel Ataxia - adult onset
Ataxia v1.113 TDP1 Bryony Thompson gene: TDP1 was added
gene: TDP1 was added to Ataxia. Sources: Expert Review Amber,Royal Melbourne Hospital
founder tags were added to gene: TDP1.
Mode of inheritance for gene: TDP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TDP1 were set to 31182267; 12244316
Phenotypes for gene: TDP1 were set to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 , MIM# 607250
Ataxia v1.112 Bryony Thompson Copied gene SYT14 from panel Ataxia - adult onset
Ataxia v1.112 SYT14 Bryony Thompson gene: SYT14 was added
gene: SYT14 was added to Ataxia. Sources: Expert Review Red,Royal Melbourne Hospital,GeneReviews,Expert Review Red,Victorian Clinical Genetics Services
Mode of inheritance for gene: SYT14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SYT14 were set to 21835308
Phenotypes for gene: SYT14 were set to ?Spinocerebellarataxia,autosomalrecessive11,614229
Ataxia v1.111 Bryony Thompson Copied gene SPG7 from panel Ataxia - adult onset
Ataxia v1.111 SPG7 Bryony Thompson gene: SPG7 was added
gene: SPG7 was added to Ataxia. Sources: Expert Review Green,Royal Melbourne Hospital,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SPG7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPG7 were set to Spastic paraplegia 7 (#607259) complex forms of the disease. Actually associated with a range of phenotypes including adult-onset ataxia; Autosomal recessive spastic paraplegia 7, 607259
Ataxia v1.110 Bryony Thompson Copied gene SEPSECS from panel Ataxia - adult onset
Ataxia v1.110 SEPSECS Bryony Thompson gene: SEPSECS was added
gene: SEPSECS was added to Ataxia. Sources: Expert Review Red,Expert list,Victorian Clinical Genetics Services
Mode of inheritance for gene: SEPSECS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEPSECS were set to 29464431
Phenotypes for gene: SEPSECS were set to Pontocerebellar hypoplasia type 2D, 613811; cerebellar ataxia and cognitive impairment
Ataxia v1.109 Bryony Thompson Copied gene SDHA from panel Ataxia - adult onset
Ataxia v1.109 SDHA Bryony Thompson gene: SDHA was added
gene: SDHA was added to Ataxia. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: SDHA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SDHA were set to 10976639; 27683074
Phenotypes for gene: SDHA were set to Neurodegeneration with ataxia and late-onset optic atrophy, MIM# 619259
Ataxia v1.108 Bryony Thompson Copied gene SAMD9L from panel Ataxia - adult onset
Ataxia v1.108 SAMD9L Bryony Thompson gene: SAMD9L was added
gene: SAMD9L was added to Ataxia. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SAMD9L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SAMD9L were set to 35310830; 33884299; 28570036
Phenotypes for gene: SAMD9L were set to Spinocerebellar ataxia 49, MIM# 619806; Ataxia-pancytopaenia syndrome, MIM# 159550
Ataxia v1.107 Bryony Thompson Copied gene RNF170 from panel Ataxia - adult onset
Ataxia v1.107 RNF170 Bryony Thompson gene: RNF170 was added
gene: RNF170 was added to Ataxia. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: RNF170 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RNF170 were set to 32943585; 21115467
Phenotypes for gene: RNF170 were set to Ataxia, sensory, 1, autosomal dominant, MIM# 608984
Ataxia v1.106 Bryony Thompson Copied gene RFC1 from panel Ataxia - adult onset
Ataxia v1.106 RFC1 Bryony Thompson gene: RFC1 was added
gene: RFC1 was added to Ataxia. Sources: Expert Review Green,Expert list,Literature
STR tags were added to gene: RFC1.
Mode of inheritance for gene: RFC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RFC1 were set to 30926972; 33103729; 35883251; 36478048; 36289003
Phenotypes for gene: RFC1 were set to Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575
Ataxia v1.105 Bryony Thompson Copied gene PUM1 from panel Ataxia - adult onset
Ataxia v1.105 PUM1 Bryony Thompson gene: PUM1 was added
gene: PUM1 was added to Ataxia. Sources: Expert Review Green,Royal Melbourne Hospital,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PUM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PUM1 were set to Spinocerebellar ataxia 47, 617931
Ataxia v1.104 Bryony Thompson Copied gene PRPS1 from panel Ataxia - adult onset
Ataxia v1.104 PRPS1 Bryony Thompson gene: PRPS1 was added
gene: PRPS1 was added to Ataxia. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: PRPS1 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: PRPS1 were set to 33898739; 28967191
Phenotypes for gene: PRPS1 were set to Adult-onset progressive ataxia, congenital strabismus, infantile-onset hearing loss, retinal dystrophy
Ataxia v1.103 Bryony Thompson Copied gene PRNP from panel Ataxia - adult onset
Ataxia v1.103 PRNP Bryony Thompson gene: PRNP was added
gene: PRNP was added to Ataxia. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PRNP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PRNP were set to 2564168; 34324063; 20301407
Phenotypes for gene: PRNP were set to Multiple allelic disorders reported; Huntington disease-like 1; Autosomal Dominant Ataxia; Gerstmann-Straussler disease; Insomnia, fatal familial; Creutzfeldt-Jakob disease
Ataxia v1.102 Bryony Thompson Copied gene PNPT1 from panel Ataxia - adult onset
Ataxia v1.102 PNPT1 Bryony Thompson gene: PNPT1 was added
gene: PNPT1 was added to Ataxia. Sources: Expert Review Green,Literature
Mode of inheritance for gene: PNPT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PNPT1 were set to 35411967; 37935417; 39729134; 39899068; 39924761; 40757543
Phenotypes for gene: PNPT1 were set to Spinocerebellar ataxia 25, MIM# 608703
Mendeliome v1.3727 Bryony Thompson Added reviews for gene PLD3 from panel Ataxia
Ataxia v1.101 PLD3 Bryony Thompson Publications for gene: PLD3 were set to 30312375; 30312384; 29053796
Ataxia v1.100 PLD3 Bryony Thompson edited their review of gene: PLD3: Added comment: Another rare missense c.77T>C p.Ile26Thr was identified in a SCA case. Now, 2 reported variants are associated with SCA.; Changed publications: 29053796, 30312375, 30312384, 38059248
Ataxia v1.100 Bryony Thompson Copied gene PLD3 from panel Ataxia - adult onset
Ataxia v1.100 PLD3 Bryony Thompson gene: PLD3 was added
gene: PLD3 was added to Ataxia. Sources: Expert Review Amber,Royal Melbourne Hospital,GeneReviews
Mode of inheritance for gene: PLD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PLD3 were set to 30312375; 30312384; 29053796
Phenotypes for gene: PLD3 were set to ?Spinocerebellar ataxia 46
Ataxia v1.99 Bryony Thompson Copied gene PDYN from panel Ataxia - adult onset
Ataxia v1.99 PDYN Bryony Thompson gene: PDYN was added
gene: PDYN was added to Ataxia. Sources: Expert Review Green,Royal Melbourne Hospital,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PDYN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PDYN were set to Spinocerebellar ataxia 23; Spinocerebellar ataxia 23, 610245
Ataxia v1.98 Bryony Thompson Copied gene NPTX1 from panel Ataxia - adult onset
Ataxia v1.98 NPTX1 Bryony Thompson gene: NPTX1 was added
gene: NPTX1 was added to Ataxia. Sources: Expert Review Green,Literature
Mode of inheritance for gene: NPTX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NPTX1 were set to 34788392; 35288776; 35285082; 35560436
Phenotypes for gene: NPTX1 were set to cerebellar ataxia MONDO#0000437, NPTX1-related
Ataxia v1.97 Bryony Thompson Copied gene NOL3 from panel Ataxia - adult onset
Ataxia v1.97 NOL3 Bryony Thompson gene: NOL3 was added
gene: NOL3 was added to Ataxia. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: NOL3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NOL3 were set to 22926851
Phenotypes for gene: NOL3 were set to Myoclonus, familial cortical
Ataxia v1.96 Bryony Thompson Copied gene MME from panel Ataxia - adult onset
Ataxia v1.96 MME Bryony Thompson gene: MME was added
gene: MME was added to Ataxia. Sources: Expert Review Green,Royal Melbourne Hospital,GeneReviews,Expert Review Red,Victorian Clinical Genetics Services
Mode of inheritance for gene: MME was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MME were set to 27583304
Phenotypes for gene: MME were set to ?Spinocerebellar ataxia type 43, 617018
Ataxia v1.95 Bryony Thompson Copied gene LMNB1 from panel Ataxia - adult onset
Ataxia v1.95 LMNB1 Bryony Thompson gene: LMNB1 was added
gene: LMNB1 was added to Ataxia. Sources: Expert Review Green,Expert Review Green,Expert list,Victorian Clinical Genetics Services
SV/CNV tags were added to gene: LMNB1.
Mode of inheritance for gene: LMNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LMNB1 were set to 31695592
Phenotypes for gene: LMNB1 were set to Leukodystrophy, adult-onset, autosomal dominant MIM#169500
Ataxia v1.94 Bryony Thompson Copied gene ITM2B from panel Ataxia - adult onset
Ataxia v1.94 ITM2B Bryony Thompson gene: ITM2B was added
gene: ITM2B was added to Ataxia. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ITM2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ITM2B were set to 10391242; 10781099; 33814452
Phenotypes for gene: ITM2B were set to Cerebellar ataxia, cataract, deafness, and dementia or psychosis; Danish familial dementia
Ataxia v1.93 Bryony Thompson Copied gene IFRD1 from panel Ataxia - adult onset
Ataxia v1.93 IFRD1 Bryony Thompson gene: IFRD1 was added
gene: IFRD1 was added to Ataxia. Sources: Expert Review Red,Expert Review,Expert Review Red,Literature
Mode of inheritance for gene: IFRD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: IFRD1 were set to 29362493; 28601596; 19409521
Phenotypes for gene: IFRD1 were set to Spinocerebellar ataxia 18 MIM#607458
Ataxia v1.92 Bryony Thompson Copied gene GFAP from panel Ataxia - adult onset
Ataxia v1.92 GFAP Bryony Thompson gene: GFAP was added
gene: GFAP was added to Ataxia. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GFAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GFAP were set to Alexander disease, 203450; Autosomal Dominant Ataxia; Alexander disease
Ataxia v1.91 Bryony Thompson Copied gene GDAP2 from panel Ataxia - adult onset
Ataxia v1.91 GDAP2 Bryony Thompson gene: GDAP2 was added
gene: GDAP2 was added to Ataxia. Sources: Expert Review Green,Expert list,Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GDAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GDAP2 were set to Autosomal recessive spinocerebellar ataxia
Ataxia v1.90 Bryony Thompson Copied gene FAT2 from panel Ataxia - adult onset
Ataxia v1.90 FAT2 Bryony Thompson gene: FAT2 was added
gene: FAT2 was added to Ataxia. Sources: Expert Review Green,Expert Review Green,Expert list,Expert list,Royal Melbourne Hospital,GeneReviews
Mode of inheritance for gene: FAT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FAT2 were set to 29053796; 33884300
Phenotypes for gene: FAT2 were set to Spinocerebellar ataxia 45, MIM#617769
Ataxia v1.89 Bryony Thompson Copied gene ERCC4 from panel Ataxia - adult onset
Ataxia v1.89 ERCC4 Bryony Thompson gene: ERCC4 was added
gene: ERCC4 was added to Ataxia. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC4 were set to 29403087; 28431612; 29892709
Phenotypes for gene: ERCC4 were set to Cerebellar ataxia; Xeroderma pigmentosum, group F, MIM# 278760
Ataxia v1.88 Bryony Thompson Copied gene ELOVL5 from panel Ataxia - adult onset
Ataxia v1.88 ELOVL5 Bryony Thompson gene: ELOVL5 was added
gene: ELOVL5 was added to Ataxia. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ELOVL5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ELOVL5 were set to 25065913
Phenotypes for gene: ELOVL5 were set to Spinocerebellar ataxia 38, MIM#615957
Ataxia v1.87 Bryony Thompson Copied gene ELOVL4 from panel Ataxia - adult onset
Ataxia v1.87 ELOVL4 Bryony Thompson gene: ELOVL4 was added
gene: ELOVL4 was added to Ataxia. Sources: Expert Review Green,Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ELOVL4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ELOVL4 were set to Spinocerebellar ataxia 34 133190; Spinocerebellar ataxia 34, 133190
Ataxia v1.86 Bryony Thompson Copied gene EEF2 from panel Ataxia - adult onset
Ataxia v1.86 EEF2 Bryony Thompson gene: EEF2 was added
gene: EEF2 was added to Ataxia. Sources: Expert Review Red,Royal Melbourne Hospital,GeneReviews,Victorian Clinical Genetics Services
Mode of inheritance for gene: EEF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EEF2 were set to 15732118; 23001565
Phenotypes for gene: EEF2 were set to ?Spinocerebellar ataxia 26
Ataxia v1.85 Bryony Thompson Copied gene DNMT1 from panel Ataxia - adult onset
Ataxia v1.85 DNMT1 Bryony Thompson gene: DNMT1 was added
gene: DNMT1 was added to Ataxia. Sources: Literature,ClinGen,Expert Review Green
Mode of inheritance for gene: DNMT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DNMT1 were set to 22328086, 23904686, 24727570, 25678562, 23521649, 23365052, 21532572, 27602171, 25033457, 31984424
Phenotypes for gene: DNMT1 were set to Hereditary sensory neuropathy-deafness-dementia syndrome, MONDO:0013584
Ataxia v1.84 Bryony Thompson Copied gene DNAJC5 from panel Ataxia - adult onset
Ataxia v1.84 DNAJC5 Bryony Thompson gene: DNAJC5 was added
gene: DNAJC5 was added to Ataxia. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: DNAJC5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DNAJC5 were set to Ceroid lipofuscinosis, neuronal, 4 (Kufs type), MONDO:0008083
Ataxia v1.83 Bryony Thompson Copied gene CSF1R from panel Ataxia - adult onset
Ataxia v1.83 CSF1R Bryony Thompson gene: CSF1R was added
gene: CSF1R was added to Ataxia. Sources: Expert Review Green,Literature
Mode of inheritance for gene: CSF1R was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CSF1R were set to 24198292; 25563800; 25935893
Phenotypes for gene: CSF1R were set to Leukoencephalopathy, diffuse hereditary, with spheroids MIM#221820; ataxia
Ataxia v1.82 CP Bryony Thompson Publications for gene: CP were set to
Ataxia v1.81 Bryony Thompson Copied gene CP from panel Ataxia - adult onset
Ataxia v1.81 CP Bryony Thompson gene: CP was added
gene: CP was added to Ataxia. Sources: Royal Melbourne Hospital,Expert Review Green,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CP were set to Aceruloplasminemia, 604290; Cerebellar ataxia, 604290; Hemosiderosis, systemic, due to aceruloplasminemia, 604290
Ataxia v1.80 Bryony Thompson Copied gene CLCN2 from panel Ataxia - adult onset
Ataxia v1.80 CLCN2 Bryony Thompson gene: CLCN2 was added
gene: CLCN2 was added to Ataxia. Sources: Expert Review Green,Royal Melbourne Hospital,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CLCN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CLCN2 were set to {Epilepsy, juvenile absence, susceptibility to, 2}, 607628; Leukoencephalopathy with ataxia, 615651; {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628; {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628
Ataxia v1.79 Bryony Thompson Copied gene CHCHD10 from panel Ataxia - adult onset
Ataxia v1.79 CHCHD10 Bryony Thompson gene: CHCHD10 was added
gene: CHCHD10 was added to Ataxia. Sources: Expert Review Red,Literature
Mode of inheritance for gene: CHCHD10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHCHD10 were set to 24934289
Phenotypes for gene: CHCHD10 were set to autosomal dominant mitochondrial myopathy with exercise intolerance MONDO:0014532
Ataxia v1.78 Bryony Thompson Copied gene CCDC88C from panel Ataxia - adult onset
Ataxia v1.78 CCDC88C Bryony Thompson gene: CCDC88C was added
gene: CCDC88C was added to Ataxia. Sources: Expert Review Amber,Royal Melbourne Hospital,GeneReviews,Victorian Clinical Genetics Services
Mode of inheritance for gene: CCDC88C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CCDC88C were set to 25062847; 30398676
Phenotypes for gene: CCDC88C were set to autosomal dominant spinocerebellar ataxia; ?Spinocerebellar ataxia 40, 616053
Ataxia v1.77 Bryony Thompson Copied gene CAPN1 from panel Ataxia - adult onset
Ataxia v1.77 CAPN1 Bryony Thompson gene: CAPN1 was added
gene: CAPN1 was added to Ataxia. Sources: Expert Review Green,Expert list,Expert Review Amber,Expert list
Mode of inheritance for gene: CAPN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAPN1 were set to 27320912; 29678961; 30572172; 31023339; 31104286
Phenotypes for gene: CAPN1 were set to Spastic paraplegia 76, autosomal recessive, 616907; MONDO:0014827
Ataxia v1.76 Bryony Thompson Copied gene BCKDHB from panel Episodic Ataxia
Ataxia v1.76 BCKDHB Bryony Thompson gene: BCKDHB was added
gene: BCKDHB was added to Ataxia. Sources: Expert Review Green,Expert list
treatable tags were added to gene: BCKDHB.
Mode of inheritance for gene: BCKDHB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCKDHB were set to PMID 32151765
Phenotypes for gene: BCKDHB were set to Episodic ataxia during metabolic crises; paroxysmal nonkinesigenic dyskinesia
Ataxia v1.75 Bryony Thompson Copied gene CACNB4 from panel Ataxia - adult onset
Ataxia v1.75 CACNB4 Bryony Thompson gene: CACNB4 was added
gene: CACNB4 was added to Ataxia. Sources: Expert Review Red,Expert list,Royal Melbourne Hospital,Victorian Clinical Genetics Services
Mode of inheritance for gene: CACNB4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNB4 were set to 10762541; 27003325; 9628818
Phenotypes for gene: CACNB4 were set to Episodic ataxia type 5, 613855
Ataxia v1.74 Bryony Thompson Copied gene ATP7B from panel Ataxia - adult onset
Ataxia v1.74 ATP7B Bryony Thompson gene: ATP7B was added
gene: ATP7B was added to Ataxia. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP7B were set to Wilson disease 277900; Wilson disease, 277900
Ataxia v1.73 Bryony Thompson Panel name changed from Ataxia - paediatric to Ataxia
Ataxia v1.72 Bryony Thompson Copied gene ATP1A2 from panel Ataxia - adult onset
Ataxia v1.72 ATP1A2 Bryony Thompson gene: ATP1A2 was added
gene: ATP1A2 was added to Ataxia - paediatric. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: ATP1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ATP1A2 were set to Alternating hemiplegia of childhood 1, 104290; Familial hemiplegic migraine 2, 602481
Ataxia v1.71 Bryony Thompson Copied gene ATP13A2 from panel Ataxia - adult onset
Ataxia v1.71 ATP13A2 Bryony Thompson gene: ATP13A2 was added
gene: ATP13A2 was added to Ataxia - paediatric. Sources: Expert Review Green,Literature
Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP13A2 were set to 21362476; 21696388; 31588715; 32559632; 33033738; 33091395; 34405108
Phenotypes for gene: ATP13A2 were set to Kufor-Rakeb syndrome MIM#606693
Ataxia v1.70 Bryony Thompson Copied gene ABCD1 from panel Ataxia - adult onset
Ataxia v1.70 ABCD1 Bryony Thompson gene: ABCD1 was added
gene: ABCD1 was added to Ataxia - paediatric. Sources: Expert Review Green,Expert list,Royal Melbourne Hospital
Mode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: ABCD1 were set to Adrenoleukodystrophy
Brain Calcification v1.117 POLA2 Zornitza Stark Marked gene: POLA2 as ready
Brain Calcification v1.117 POLA2 Zornitza Stark Gene: pola2 has been classified as Green List (High Evidence).
Brain Calcification v1.117 Zornitza Stark Copied gene POLA2 from panel Mendeliome
Brain Calcification v1.117 POLA2 Zornitza Stark gene: POLA2 was added
gene: POLA2 was added to Brain Calcification. Sources: Expert Review Green,Literature
Mode of inheritance for gene: POLA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLA2 were set to 39616267
Phenotypes for gene: POLA2 were set to Telomere biology syndrome MONDO:0100137
Brain Calcification v1.116 NUDT2 Zornitza Stark Marked gene: NUDT2 as ready
Brain Calcification v1.116 NUDT2 Zornitza Stark Gene: nudt2 has been classified as Green List (High Evidence).
Brain Calcification v1.116 Zornitza Stark Copied gene NUDT2 from panel Intellectual disability syndromic and non-syndromic
Brain Calcification v1.116 NUDT2 Zornitza Stark gene: NUDT2 was added
gene: NUDT2 was added to Brain Calcification. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: NUDT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUDT2 were set to 27431290; 30059600; 33058507
Phenotypes for gene: NUDT2 were set to Intellectual developmental disorder with or without peripheral neuropathy MIM#619844
Intellectual disability syndromic and non-syndromic v1.469 NUDT2 Zornitza Stark Phenotypes for gene: NUDT2 were changed from Muscular hypotonia; Global developmental delay; Intellectual disability; Polyneuropathy to Intellectual developmental disorder with or without peripheral neuropathy MIM#619844
Intellectual disability syndromic and non-syndromic v1.468 NUDT2 Zornitza Stark edited their review of gene: NUDT2: Added comment: PMID 38141063 reports 18 individuals from 10 unrelated families with biallelic loss‑of‑function NUDT2 variants presenting with early‑onset neurodevelopmental disorder characterized by hypotonia, motor delay, gait disturbance, mild intellectual disability, peripheral neuropathy, corpus callosum abnormalities and progressive basal ganglia signal abnormalities.; Changed publications: 27431290, 30059600, 33058507, 38141063
Intellectual disability syndromic and non-syndromic v1.468 NUDT2 Zornitza Stark edited their review of gene: NUDT2: Changed phenotypes: Intellectual developmental disorder with or without peripheral neuropathy MIM#619844
Brain Calcification v1.115 NOTCH1 Zornitza Stark Marked gene: NOTCH1 as ready
Brain Calcification v1.115 NOTCH1 Zornitza Stark Gene: notch1 has been classified as Green List (High Evidence).
Brain Calcification v1.115 Zornitza Stark Copied gene NOTCH1 from panel Intellectual disability syndromic and non-syndromic
Brain Calcification v1.115 NOTCH1 Zornitza Stark gene: NOTCH1 was added
gene: NOTCH1 was added to Brain Calcification. Sources: Expert Review Green,Literature
Mode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NOTCH1 were set to 35947102
Phenotypes for gene: NOTCH1 were set to Genetic cerebral small vessel disease (MONDO:0018787), NOTCH1-related
Mode of pathogenicity for gene: NOTCH1 was set to Other
Brain Calcification v1.114 KARS Zornitza Stark Marked gene: KARS as ready
Brain Calcification v1.114 KARS Zornitza Stark Gene: kars has been classified as Green List (High Evidence).
Brain Calcification v1.114 KARS Zornitza Stark Phenotypes for gene: KARS were changed from Leukoencephalopathy with or without deafness (LEPID), MIM#619147; Combined mitochondrial oxidative phosphorylation deficiency; epilepsy; intellectual disability; microcephaly to Leukoencephalopathy with or without deafness (LEPID), MIM#619147
Brain Calcification v1.113 Zornitza Stark Copied gene KARS from panel Intellectual disability syndromic and non-syndromic
Brain Calcification v1.113 KARS Zornitza Stark gene: KARS was added
gene: KARS was added to Brain Calcification. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: KARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KARS were set to 26741492; 31618474; 28887846; 25330800; 29615062; 30252186; 28496994
Phenotypes for gene: KARS were set to Leukoencephalopathy with or without deafness (LEPID), MIM#619147; Combined mitochondrial oxidative phosphorylation deficiency; epilepsy; intellectual disability; microcephaly
Intellectual disability syndromic and non-syndromic v1.468 KARS Zornitza Stark changed review comment from: Sources: Expert list; to: Infantile-onset progressive leukoencephalopathy with or without deafness (LEPID) is a complex neurodegenerative disorder with onset of symptoms in infancy or early childhood. Most individuals present with sensorineural deafness or hypoacousia and global developmental delay. Affected individuals show episodic regression with progressive motor deterioration resulting in spastic tetraplegia and loss of ambulation, as well as impaired intellectual development with poor or absent speech. Additional more variable features may include poor overall growth with microcephaly, seizures, visual loss, microcytic anaemia, and hepatic enlargement or abnormal liver enzymes.

Brain imaging shows deep white matter abnormalities consistent with a progressive leukoencephalopathy.

Calcifications of the brain and spinal cord are a feature.
Mitochondrial disease v0.1095 KARS Zornitza Stark Marked gene: KARS as ready
Mitochondrial disease v0.1095 KARS Zornitza Stark Gene: kars has been classified as Green List (High Evidence).
Mitochondrial disease v0.1095 KARS Zornitza Stark Phenotypes for gene: KARS were changed from to Leukoencephalopathy with or without deafness (LEPID), MIM#619147; Deafness, autosomal recessive 89, MIM# 613916; Congenital deafness and adult-onset progressive leukoencephalopathy (DEAPLE), MIM#619196
Mitochondrial disease v0.1094 KARS Zornitza Stark Publications for gene: KARS were set to
Mitochondrial disease v0.1093 KARS Zornitza Stark Mode of inheritance for gene: KARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Brain Calcification v1.112 IRF8 Zornitza Stark Marked gene: IRF8 as ready
Brain Calcification v1.112 IRF8 Zornitza Stark Gene: irf8 has been classified as Amber List (Moderate Evidence).
Brain Calcification v1.112 IRF8 Zornitza Stark Classified gene: IRF8 as Amber List (moderate evidence)
Brain Calcification v1.112 IRF8 Zornitza Stark Gene: irf8 has been classified as Amber List (Moderate Evidence).
Brain Calcification v1.111 IRF8 Zornitza Stark gene: IRF8 was added
gene: IRF8 was added to Brain Calcification. Sources: Literature
Mode of inheritance for gene: IRF8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IRF8 were set to 29128673; 35338423
Phenotypes for gene: IRF8 were set to Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, MIM# 226990
Review for gene: IRF8 was set to AMBER
Added comment: PMID 29128673 and PMID 35338423 report 2 individuals from 2 unrelated families with biallelic loss-of-function IRF8 variants (missense and truncating) presenting with autosomal recessive IRF8 deficiency characterized by intracerebral calcifications, dendritic cell deficiency, monocytopenia, pulmonary alveolar proteinosis, and severe early‑onset infections.
Sources: Literature
Brain Calcification v1.110 FLVCR2 Zornitza Stark Marked gene: FLVCR2 as ready
Brain Calcification v1.110 FLVCR2 Zornitza Stark Gene: flvcr2 has been classified as Green List (High Evidence).
Brain Calcification v1.110 CSF1R Zornitza Stark Marked gene: CSF1R as ready
Brain Calcification v1.110 CSF1R Zornitza Stark Gene: csf1r has been classified as Green List (High Evidence).
Brain Calcification v1.110 ATP1A2 Zornitza Stark Marked gene: ATP1A2 as ready
Brain Calcification v1.110 ATP1A2 Zornitza Stark Gene: atp1a2 has been classified as Green List (High Evidence).
Brain Calcification v1.110 ATP1A2 Zornitza Stark Phenotypes for gene: ATP1A2 were changed from Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602; hydrops; arthrogryposis; microcephaly; malformations of cortical development; dysmorphic features; severe respiratory insufficiency to Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602
Brain Calcification v1.109 Zornitza Stark Copied gene FLVCR2 from panel Mendeliome
Brain Calcification v1.109 FLVCR2 Zornitza Stark gene: FLVCR2 was added
gene: FLVCR2 was added to Brain Calcification. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FLVCR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FLVCR2 were set to 30712878; 20206334; 20518025; 20690116; 25677735
Phenotypes for gene: FLVCR2 were set to Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, MIM# 225790
Mendeliome v1.3726 HOXA4 Lucy Spencer Phenotypes for gene: HOXA4 were changed from Microtia-Atresia; CAKUT to Microtia with meatal atresia and conductive deafness MONDO:0009634, HOXA4-related
Mendeliome v1.3725 HNRNPD Lucy Spencer Phenotypes for gene: HNRNPD were changed from Neurodevelopmental disorder to Complex neurodevelopmental disorder MONDO:0100038, HNRNPD-related
Intellectual disability syndromic and non-syndromic v1.468 HNRNPD Lucy Spencer Phenotypes for gene: HNRNPD were changed from Neurodevelopmental disorder to Complex neurodevelopmental disorder MONDO:0100038, HNRNPD-related
Mendeliome v1.3724 HMBS Lucy Spencer commented on gene: HMBS
Mendeliome v1.3724 HIRA Lucy Spencer Phenotypes for gene: HIRA were changed from Neurodevelopmental disorder to Neurodevelopmental disorder, MONDO:0700092, HIRA-related
Intellectual disability syndromic and non-syndromic v1.467 HID1 Lucy Spencer Phenotypes for gene: HID1 were changed from Syndromic infantile encephalopathy; Hypopituitarism to Developmental and epileptic encephalopathy 105 with hypopituitarism MIM#619983
Pituitary hormone deficiency v0.80 HID1 Lucy Spencer Phenotypes for gene: HID1 were changed from Syndromic infantile encephalopathy; Hypopituitarism to Developmental and epileptic encephalopathy 105 with hypopituitarism MIM#619983
Callosome v0.574 HID1 Lucy Spencer Phenotypes for gene: HID1 were changed from Syndromic infantile encephalopathy; Hypopituitarism to Developmental and epileptic encephalopathy 105 with hypopituitarism MIM#619983
Genetic Epilepsy v1.295 HID1 Lucy Spencer Phenotypes for gene: HID1 were changed from Syndromic infantile encephalopathy; Hypopituitarism to Developmental and epileptic encephalopathy 105 with hypopituitarism MIM#619983
Mendeliome v1.3723 HID1 Lucy Spencer Phenotypes for gene: HID1 were changed from Syndromic infantile encephalopathy; Hypopituitarism to Developmental and epileptic encephalopathy 105 with hypopituitarism MIM#619983
Mendeliome v1.3722 HIBADH Lucy Spencer Phenotypes for gene: HIBADH were changed from Organic aciduria to 3-hydroxyisobutyric aciduria MONDO:0009371, HIBADH-related
Mendeliome v1.3721 HIBADH Lucy Spencer Classified gene: HIBADH as Green List (high evidence)
Mendeliome v1.3721 HIBADH Lucy Spencer Gene: hibadh has been classified as Green List (High Evidence).
Mendeliome v1.3720 HIBADH Lucy Spencer reviewed gene: HIBADH: Rating: GREEN; Mode of pathogenicity: None; Publications: 35174513, 34176136; Phenotypes: 3-hydroxyisobutyric aciduria MONDO:0009371, HIBADH-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.3720 HELQ Lucy Spencer Phenotypes for gene: HELQ were changed from Primary ovarian insufficiency to Primary ovarian insufficiency MONDO:0005387, HELQ-related
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.391 HELQ Lucy Spencer Phenotypes for gene: HELQ were changed from Primary ovarian insufficiency to Primary ovarian insufficiency MONDO:0005387, HELQ-related
Intellectual disability syndromic and non-syndromic v1.466 HEATR5B Lucy Spencer Phenotypes for gene: HEATR5B were changed from pontocerebellar hypoplasia; intellectual disability; seizures to Pontocerebellar hypoplasia MONDO:0020135, HEATR5B-related
Genetic Epilepsy v1.294 HEATR5B Lucy Spencer Phenotypes for gene: HEATR5B were changed from pontocerebellar hypoplasia; intellectual disability; seizures to Pontocerebellar hypoplasia MONDO:0020135, HEATR5B-related
Cerebellar and Pontocerebellar Hypoplasia v1.92 HEATR5B Lucy Spencer Phenotypes for gene: HEATR5B were changed from pontocerebellar hypoplasia; intellectual disability; seizures to Pontocerebellar hypoplasia MONDO:0020135, HEATR5B-related
Mendeliome v1.3719 HEATR5B Lucy Spencer Phenotypes for gene: HEATR5B were changed from pontocerebellar hypoplasia; intellectual disability; seizures to Pontocerebellar hypoplasia MONDO:0020135, HEATR5B-related
Intellectual disability syndromic and non-syndromic v1.465 HDAC4 Lucy Spencer Phenotypes for gene: HDAC4 were changed from Brachydactyly mental retardation syndrome; Brachydactyly without intellectual disability to Neurodevelopmental disorder with central hypotonia and dysmorphic facies MIM#619797; Brachydactyly mental retardation syndrome; Brachydactyly without intellectual disability
Mendeliome v1.3718 HDAC4 Lucy Spencer Phenotypes for gene: HDAC4 were changed from Brachydactyly mental retardation syndrome; Brachydactyly without intellectual disability; Intellectual disability syndrome to Neurodevelopmental disorder with central hypotonia and dysmorphic facies MIM#619797; Brachydactyly mental retardation syndrome; Brachydactyly without intellectual disability; Intellectual disability syndrome
Mendeliome v1.3717 HCN1 Lucy Spencer commented on gene: HCN1
Intellectual disability syndromic and non-syndromic v1.464 H3F3B Lucy Spencer Phenotypes for gene: H3F3B were changed from Intellectual disability; regression; seizures to Bryant-Li-Bhoj neurodevelopmental syndrome 2 MIM#619721
Regression v0.599 H3F3B Lucy Spencer Phenotypes for gene: H3F3B were changed from Intellectual disability; regression; seizures to Bryant-Li-Bhoj neurodevelopmental syndrome 2 MIM#619721
Genetic Epilepsy v1.293 H3F3B Lucy Spencer Phenotypes for gene: H3F3B were changed from Intellectual disability; regression; seizures to Bryant-Li-Bhoj neurodevelopmental syndrome 2 MIM#619721
Mendeliome v1.3717 H3F3B Lucy Spencer Phenotypes for gene: H3F3B were changed from Intellectual disability; regression; seizures to Bryant-Li-Bhoj neurodevelopmental syndrome 2 MIM#619721
Genetic Epilepsy v1.292 H3F3A Lucy Spencer Phenotypes for gene: H3F3A were changed from Bryant-Li-Bhoj neurodevelopmental syndrome 1 MIM#619720 to Bryant-Li-Bhoj neurodevelopmental syndrome 1 MIM#619720
Regression v0.598 H3F3A Lucy Spencer Phenotypes for gene: H3F3A were changed from Intellectual disability; regression; seizures to Bryant-Li-Bhoj neurodevelopmental syndrome 1 MIM#619720
Intellectual disability syndromic and non-syndromic v1.463 H3F3A Lucy Spencer Phenotypes for gene: H3F3A were changed from Intellectual disability; regression; seizures to Bryant-Li-Bhoj neurodevelopmental syndrome 1 MIM#619720
Genetic Epilepsy v1.291 H3F3A Lucy Spencer Phenotypes for gene: H3F3A were changed from Intellectual disability; regression; seizures to Bryant-Li-Bhoj neurodevelopmental syndrome 1 MIM#619720
Mendeliome v1.3716 H3F3A Lucy Spencer Phenotypes for gene: H3F3A were changed from Intellectual disability; regression; seizures to Bryant-Li-Bhoj neurodevelopmental syndrome 1 MIM#619720
Mendeliome v1.3715 GUCY2D Lucy Spencer Phenotypes for gene: GUCY2D were changed from Cone-rod dystrophy 6, MIM# 601777; Leber congenital amaurosis 1, MIM# 204000; Night blindness, congenital stationary, type 1I, MIM# 618555 to GUCY2D-related dominant retinopathy MONDO:0100441; GUCY2D-related recessive retinopathy MONDO:0100453
Mendeliome v1.3714 GUCY2D Lucy Spencer reviewed gene: GUCY2D: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: GUCY2D-related dominant retinopathy MONDO:0100441, GUCY2D-related recessive retinopathy MONDO:0100453; Mode of inheritance: None
Mendeliome v1.3714 GSS Lucy Spencer Phenotypes for gene: GSS were changed from Glutathione synthetase deficiency MIM#266130; Hemolytic anemia due to glutathione synthetase deficiency MIM#231900; Disorders of the gamma-glutamyl cycle to inherited glutathione synthetase deficiency MONDO:0017909; Glutathione synthetase deficiency MIM#266130; Hemolytic anemia due to glutathione synthetase deficiency MIM#231900
Intellectual disability syndromic and non-syndromic v1.462 GSPT2 Lucy Spencer Phenotypes for gene: GSPT2 were changed from Intellectual disability MONDO:0001071, GSPT2-related to Intellectual disability MONDO:0001071, GSPT2-related
Intellectual disability syndromic and non-syndromic v1.461 GSPT2 Lucy Spencer Mode of inheritance for gene: GSPT2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v1.460 GSPT2 Lucy Spencer Phenotypes for gene: GSPT2 were changed from to Intellectual disability MONDO:0001071, GSPT2-related
Intellectual disability syndromic and non-syndromic v1.460 GSPT2 Lucy Spencer Mode of inheritance for gene: GSPT2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v1.476 GSPT2 Lucy Spencer Phenotypes for gene: GSPT2 were changed from XL intellectual disability to Intellectual disability MONDO:0001071, GSPT2-related
Mendeliome v1.3713 GSPT2 Lucy Spencer Phenotypes for gene: GSPT2 were changed from Intellectual disability to Intellectual disability MONDO:0001071, GSPT2-related
Intellectual disability syndromic and non-syndromic v1.459 GRIN2B Lucy Spencer Phenotypes for gene: GRIN2B were changed from Mental retardation, autosomal dominant 6, MIM# 613970; Epileptic encephalopathy, early infantile, 27, MIM# 616139 to GRIN2B-related complex neurodevelopmental disorder MONDO:0700350; Developmental and epileptic encephalopathy 27 MIM#616139; Intellectual developmental disorder, autosomal dominant 6, with or without seizures MIM#613970
Fetal anomalies v1.475 GRIN2B Lucy Spencer Phenotypes for gene: GRIN2B were changed from Mental retardation, autosomal dominant 6, MIM# 613970; Epileptic encephalopathy, early infantile, 27, MIM# 616139 to GRIN2B-related complex neurodevelopmental disorder MONDO:0700350; Developmental and epileptic encephalopathy 27 MIM#616139; Intellectual developmental disorder, autosomal dominant 6, with or without seizures MIM#613970
Genetic Epilepsy v1.290 GRIN2B Lucy Spencer Phenotypes for gene: GRIN2B were changed from Mental retardation, autosomal dominant 6, MIM# 613970; Epileptic encephalopathy, early infantile, 27, MIM# 616139 to GRIN2B-related complex neurodevelopmental disorder MONDO:0700350; Developmental and epileptic encephalopathy 27 MIM#616139; Intellectual developmental disorder, autosomal dominant 6, with or without seizures MIM#613970
Autism v0.231 GRIN2B Lucy Spencer Phenotypes for gene: GRIN2B were changed from Mental retardation, autosomal dominant 6, MIM# 613970; Epileptic encephalopathy, early infantile, 27, MIM# 616139 to GRIN2B-related complex neurodevelopmental disorder MONDO:0700350; Developmental and epileptic encephalopathy 27 MIM#616139; Intellectual developmental disorder, autosomal dominant 6, with or without seizures MIM#613970
Cerebral Palsy v1.403 GRIN2B Lucy Spencer Phenotypes for gene: GRIN2B were changed from Cerebral Palsy; Developmental and epileptic encephalopathy 27 MIM# 616139; Intellectual developmental disorder, autosomal dominant 6, with or without seizures MIM# 613970 to GRIN2B-related complex neurodevelopmental disorder MONDO:0700350; Developmental and epileptic encephalopathy 27 MIM#616139; Intellectual developmental disorder, autosomal dominant 6, with or without seizures MIM#613970
Angelman Rett like syndromes v1.14 GRIN2B Lucy Spencer Phenotypes for gene: GRIN2B were changed from Mental retardation, autosomal dominant 6, MIM# 613970; Developmental and epileptic encephalopathy 27, MIM# 616139 to GRIN2B-related complex neurodevelopmental disorder MONDO:0700350; Developmental and epileptic encephalopathy 27 MIM#616139; Intellectual developmental disorder, autosomal dominant 6, with or without seizures MIM#613970
Polymicrogyria and Schizencephaly v0.202 GRIN2B Lucy Spencer Phenotypes for gene: GRIN2B were changed from GRIN2B-related neurodevelopmental disorder; Mental retardation, autosomal dominant 6, MIM# 613970 to GRIN2B-related complex neurodevelopmental disorder MONDO:0700350; Developmental and epileptic encephalopathy 27 MIM#616139; Intellectual developmental disorder, autosomal dominant 6, with or without seizures MIM#613970
Mendeliome v1.3712 GRIN2B Lucy Spencer Phenotypes for gene: GRIN2B were changed from Mental retardation, autosomal dominant 6, MIM# 613970; Epileptic encephalopathy, early infantile, 27, MIM# 616139 to GRIN2B-related complex neurodevelopmental disorder MONDO:0700350; Developmental and epileptic encephalopathy 27 MIM#616139; Intellectual developmental disorder, autosomal dominant 6, with or without seizures MIM#613970
Mendeliome v1.3711 GRIN2B Lucy Spencer reviewed gene: GRIN2B: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: GRIN2B-related complex neurodevelopmental disorder MONDO:0700350; Mode of inheritance: None
Mendeliome v1.3711 GRIN1 Lucy Spencer Phenotypes for gene: GRIN1 were changed from Developmental and epileptic encephalopathy 101, MIM# 619814; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, MIM# 617820 to GRIN1-related complex neurodevelopmental disorder MONDO:1060123; Developmental and epileptic encephalopathy 101, MIM# 619814; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, MIM# 617820
Mendeliome v1.3710 GRIN1 Lucy Spencer reviewed gene: GRIN1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: GRIN1-related complex neurodevelopmental disorder MONDO:1060123; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v1.458 GRIK2 Lucy Spencer Phenotypes for gene: GRIK2 were changed from Mental retardation, autosomal recessive, 6 MIM# 611092; Neurodevelopmental disorder with impaired language and ataxia and with or without seizures, MIM# 619580 to Intellectual developmental disorder, autosomal recessive 6 MIM#611092; Neurodevelopmental disorder with impaired language and ataxia and with or without seizures MIM#619580
Genetic Epilepsy v1.289 GRIK2 Lucy Spencer Phenotypes for gene: GRIK2 were changed from Mental retardation, autosomal recessive, 6 MIM# 611092; Neurodevelopmental disorder with impaired language and ataxia and with or without seizures, MIM# 619580 to Intellectual developmental disorder, autosomal recessive 6 MIM#611092; Neurodevelopmental disorder with impaired language and ataxia and with or without seizures MIM#619580
Mendeliome v1.3710 GRIK2 Lucy Spencer Phenotypes for gene: GRIK2 were changed from Mental retardation, autosomal recessive, 6 MIM# 611092; Neurodevelopmental disorder with impaired language and ataxia and with or without seizures, MIM# 619580 to Intellectual developmental disorder, autosomal recessive 6 MIM#611092; Neurodevelopmental disorder with impaired language and ataxia and with or without seizures MIM#619580
Pituitary hormone deficiency v0.79 GPR161 Lucy Spencer Phenotypes for gene: GPR161 were changed from No OMIM number; pituitary stalk interruption syndrome to Pituitary stalk interruption syndrome MONDO:0019828, GPR161-related
Mendeliome v1.3709 GPR161 Lucy Spencer Phenotypes for gene: GPR161 were changed from Predisposition to paediatric medulloblastoma to Medulloblastoma predisposition syndrome MIM#155255
Growth failure v1.84 GPR161 Lucy Spencer Phenotypes for gene: GPR161 were changed from Pituitary stalk interruption syndrome to Pituitary stalk interruption syndrome MONDO:0019828, GPR161-related
Congenital nystagmus v1.23 GPR143 Lucy Spencer Phenotypes for gene: GPR143 were changed from Ocular albinism, type I, Nettleship-Falls type, MIM# 300500; MONDO:0021019; Nystagmus 6, congenital, X-linked, MIM# 300814 to GPR143-related foveal hypoplasia MONDO:0700230; congenital nystagmus 6, MIM# 300814; Ocular albinism, type I, Nettleship-Falls type, MIM# 300500
Ocular and Oculocutaneous Albinism v1.12 GPR143 Lucy Spencer Phenotypes for gene: GPR143 were changed from Ocular albinism, type I, Nettleship-Falls type, MIM# 300500; MONDO:0021019 to GPR143-related foveal hypoplasia MONDO:0700230; congenital nystagmus 6, MIM# 300814; Ocular albinism, type I, Nettleship-Falls type, MIM# 300500
Mendeliome v1.3708 GPR143 Lucy Spencer Phenotypes for gene: GPR143 were changed from GPR143-related foveal hypoplasia MONDO:0700230; congenital nystagmus 6, MIM 300814; type I ocular albinism, Nettleship-Falls type, MIM 300500 to GPR143-related foveal hypoplasia MONDO:0700230; congenital nystagmus 6, MIM# 300814; Ocular albinism, type I, Nettleship-Falls type, MIM# 300500
Mendeliome v1.3707 GPR143 Lucy Spencer Phenotypes for gene: GPR143 were changed from congenital nystagmus 6, MIM 300814; type I ocular albinism, Nettleship-Falls type, MIM 300500 to GPR143-related foveal hypoplasia MONDO:0700230; congenital nystagmus 6, MIM 300814; type I ocular albinism, Nettleship-Falls type, MIM 300500
Mendeliome v1.3706 GPR143 Lucy Spencer reviewed gene: GPR143: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: GPR143-related foveal hypoplasia MONDO:0700230; Mode of inheritance: None
Brain Calcification v1.108 DOCK6 Zornitza Stark Marked gene: DOCK6 as ready
Brain Calcification v1.108 DOCK6 Zornitza Stark Gene: dock6 has been classified as Green List (High Evidence).
Brain Calcification v1.108 DOCK6 Zornitza Stark Classified gene: DOCK6 as Green List (high evidence)
Brain Calcification v1.108 DOCK6 Zornitza Stark Gene: dock6 has been classified as Green List (High Evidence).
Brain Calcification v1.107 DOCK6 Zornitza Stark gene: DOCK6 was added
gene: DOCK6 was added to Brain Calcification. Sources: Literature
Mode of inheritance for gene: DOCK6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DOCK6 were set to 28884918; 40481473; 30111349
Phenotypes for gene: DOCK6 were set to Adams-Oliver syndrome 2 MIM#614219
Review for gene: DOCK6 was set to GREEN
Added comment: PMID 28884918 and PMID 40481473 report 2 individuals from 2 unrelated families with autosomal recessive loss‑of‑function DOCK6 variants causing Adams‑Oliver syndrome type 2; the latter case includes prenatal ventriculomegaly, paraventricular calcifications, thin corpus callosum and ventricular septal defect. PMID 30111349 reports an individual with biallelic DOCK6 variants presenting as an atypical Aicardi–Goutières‑like syndrome with cerebral calcifications.
Sources: Literature
Mendeliome v1.3706 GOLGA3 Lucy Spencer Phenotypes for gene: GOLGA3 were changed from Primary ciliary dyskinesia to Primary ciliary dyskinesia MONDO:0016575, GOLGA3-related
Ciliary Dyskinesia v1.67 GOLGA3 Lucy Spencer Phenotypes for gene: GOLGA3 were changed from Primary ciliary dyskinesia to Primary ciliary dyskinesia MONDO:0016575, GOLGA3-related
Fetal anomalies v1.474 GNPTAB Lucy Spencer Phenotypes for gene: GNPTAB were changed from Mucolipidosis II alpha/beta MIM#252500; Mucolipidosis III alpha/beta MIM#252600 to GNPTAB-mucolipidosis MONDO:0100122; Mucolipidosis II alpha/beta, MIM# 252500; Mucolipidosis III alpha/beta, MIM# 252600
Mendeliome v1.3705 GNPTAB Lucy Spencer Phenotypes for gene: GNPTAB were changed from GNPTAB-mucolipidosis MONDO:0100122; Mucolipidosis II alpha/beta, MIM# 252500; MONDO:0009650; Mucolipidosis III alpha/beta, MIM# 252600; MONDO:0018931 to GNPTAB-mucolipidosis MONDO:0100122; Mucolipidosis II alpha/beta, MIM# 252500; Mucolipidosis III alpha/beta, MIM# 252600
Skeletal dysplasia v0.360 GNPTAB Lucy Spencer Phenotypes for gene: GNPTAB were changed from Mucolipidosis III alpha/beta 252600; Mucolipidosis II alpha/beta 252500 to GNPTAB-mucolipidosis MONDO:0100122; Mucolipidosis II alpha/beta, MIM# 252500; Mucolipidosis III alpha/beta, MIM# 252600
Lysosomal Storage Disorder v1.24 GNPTAB Lucy Spencer Phenotypes for gene: GNPTAB were changed from Mucolipidosis II alpha/beta, MIM# 252500; MONDO:0009650; Mucolipidosis III alpha/beta, MIM# 252600; MONDO:0018931 to GNPTAB-mucolipidosis MONDO:0100122; Mucolipidosis II alpha/beta, MIM# 252500; Mucolipidosis III alpha/beta, MIM# 252600
Craniosynostosis v1.73 GNPTAB Lucy Spencer Phenotypes for gene: GNPTAB were changed from Mucolipidosis II alpha/beta(I cell disease), MIM# 252500 to GNPTAB-mucolipidosis MONDO:0100122; Mucolipidosis II alpha/beta, MIM# 252500; Mucolipidosis III alpha/beta, MIM# 252600
Skeletal Dysplasia_Fetal v0.242 GNPTAB Lucy Spencer Phenotypes for gene: GNPTAB were changed from GNPTAB-mucolipidosis MONDO:0100122; Mucolipidosis II alpha/beta, MIM# 252500; Mucolipidosis III alpha/beta, MIM# 252600 to GNPTAB-mucolipidosis MONDO:0100122; Mucolipidosis II alpha/beta, MIM# 252500
Skeletal Dysplasia_Fetal v0.241 GNPTAB Lucy Spencer Phenotypes for gene: GNPTAB were changed from Mucolipidosis II alpha/beta - MIM#252500 to GNPTAB-mucolipidosis MONDO:0100122; Mucolipidosis II alpha/beta, MIM# 252500; Mucolipidosis III alpha/beta, MIM# 252600
Mendeliome v1.3704 GNPTAB Lucy Spencer Phenotypes for gene: GNPTAB were changed from Mucolipidosis II alpha/beta, MIM# 252500; MONDO:0009650; Mucolipidosis III alpha/beta, MIM# 252600; MONDO:0018931 to GNPTAB-mucolipidosis MONDO:0100122; Mucolipidosis II alpha/beta, MIM# 252500; MONDO:0009650; Mucolipidosis III alpha/beta, MIM# 252600; MONDO:0018931
Mendeliome v1.3703 GNPTAB Lucy Spencer reviewed gene: GNPTAB: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: GNPTAB-mucolipidosis MONDO:0100122; Mode of inheritance: None
Brain Calcification v1.106 Zornitza Stark Copied gene CSF1R from panel Regression
Brain Calcification v1.106 CSF1R Zornitza Stark gene: CSF1R was added
gene: CSF1R was added to Brain Calcification. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CSF1R was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSF1R were set to 30982609; 33749994; 34135456
Phenotypes for gene: CSF1R were set to Brain abnormalities, neurodegeneration, and dysosteosclerosis, MIM# 618476; BANDDOS
Fetal anomalies v1.473 GNB5 Lucy Spencer Phenotypes for gene: GNB5 were changed from Intellectual developmental disorder with cardiac arrhythmia, 617173; Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182; Early infantile epileptic encephalopathy (EIEE) to gnb5-related intellectual disability-cardiac arrhythmia syndrome MONDO:0014953; Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia (MIM#617173); Lodder-Merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia (MIM#617182)
Intellectual disability syndromic and non-syndromic v1.457 GNB5 Lucy Spencer Phenotypes for gene: GNB5 were changed from Intellectual developmental disorder with cardiac arrhythmia, 617173; Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182; Early infantile epileptic encephalopathy (EIEE) to gnb5-related intellectual disability-cardiac arrhythmia syndrome MONDO:0014953; Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia (MIM#617173); Lodder-Merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia (MIM#617182)
Genetic Epilepsy v1.288 GNB5 Lucy Spencer Phenotypes for gene: GNB5 were changed from Intellectual developmental disorder with cardiac arrhythmia, 617173; Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182; Early infantile epileptic encephalopathy (EIEE) to gnb5-related intellectual disability-cardiac arrhythmia syndrome MONDO:0014953; Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia (MIM#617173); Lodder-Merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia (MIM#617182)
Mendeliome v1.3703 GNB5 Lucy Spencer Phenotypes for gene: GNB5 were changed from Intellectual developmental disorder with cardiac arrhythmia, 617173; Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182; Early infantile epileptic encephalopathy (EIEE) to gnb5-related intellectual disability-cardiac arrhythmia syndrome MONDO:0014953; Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia (MIM#617173); Lodder-Merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia (MIM#617182)
Mendeliome v1.3702 GNB5 Lucy Spencer reviewed gene: GNB5: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: gnb5-related intellectual disability-cardiac arrhythmia syndrome MONDO:0014953; Mode of inheritance: None
Brain Calcification v1.105 C1QA Zornitza Stark Marked gene: C1QA as ready
Brain Calcification v1.105 C1QA Zornitza Stark Gene: c1qa has been classified as Green List (High Evidence).
Brain Calcification v1.105 C1QA Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Brain calcification can be a feature, see PMID 23651859.
Mendeliome v1.3702 GMPPB Lucy Spencer Phenotypes for gene: GMPPB were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 (MIM# 615350); Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14 (MIM# 615351); Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 (MIM# 615352) to Myopathy caused by variation in GMPPB MONDO:0700084; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 (MIM# 615350); Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14 (MIM# 615351); Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 (MIM# 615352)
Brain Calcification v1.105 Zornitza Stark Copied gene C1QA from panel Complement Deficiencies
Brain Calcification v1.105 C1QA Zornitza Stark gene: C1QA was added
gene: C1QA was added to Brain Calcification. Sources: Expert Review Green,Melbourne Genomics Health Alliance Immunology Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: C1QA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C1QA were set to 9225968; 21654842; 9590289
Phenotypes for gene: C1QA were set to C1q deficiency, MIM# 613652
Brain Calcification v1.104 ATP1A2 Zornitza Stark changed review comment from: 3 newborns from 2 unrelated families who died neontally, presenting in utero with fetal hydrops, seizures and polyhydramnios. At birth they had arthrogryposis, microcephaly, malformations of cortical development, dysmorphic features and severe respiratory insufficiency. Biallelic LOF variants in ATP1A2 were found on WES. Mouse model is perinatal lethal. Note mono allelic variants in this gene cause alternating hemiplegia/migraine phenotypes.
Sources: Expert list; to: 3 newborns from 2 unrelated families who died neontally, presenting in utero with fetal hydrops, seizures and polyhydramnios. At birth they had arthrogryposis, microcephaly, malformations of cortical development, dysmorphic features and severe respiratory insufficiency. Biallelic LOF variants in ATP1A2 were found on WES. Mouse model is perinatal lethal. Note mono allelic variants in this gene cause alternating hemiplegia/migraine phenotypes.

Meningeal arterial calcifications are a feature.

Sources: Expert list
Brain Calcification v1.104 Zornitza Stark Copied gene ATP1A2 from panel Arthrogryposis
Brain Calcification v1.104 ATP1A2 Zornitza Stark gene: ATP1A2 was added
gene: ATP1A2 was added to Brain Calcification. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: ATP1A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP1A2 were set to 30690204
Phenotypes for gene: ATP1A2 were set to Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602; hydrops; arthrogryposis; microcephaly; malformations of cortical development; dysmorphic features; severe respiratory insufficiency
Brain Calcification v1.103 ALPK1 Zornitza Stark Marked gene: ALPK1 as ready
Brain Calcification v1.103 ALPK1 Zornitza Stark Gene: alpk1 has been classified as Green List (High Evidence).
Brain Calcification v1.103 ALPK1 Zornitza Stark Classified gene: ALPK1 as Green List (high evidence)
Brain Calcification v1.103 ALPK1 Zornitza Stark Gene: alpk1 has been classified as Green List (High Evidence).
Brain Calcification v1.102 ALPK1 Zornitza Stark gene: ALPK1 was added
gene: ALPK1 was added to Brain Calcification. Sources: Literature
Mode of inheritance for gene: ALPK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ALPK1 were set to ROSAH syndrome, MIM# 614979
Review for gene: ALPK1 was set to GREEN
Added comment: Well established gene-disease association. One of the key features is premature basal ganglia/brainstem calcification.
Sources: Literature
Hypertension and Aldosterone disorders v1.17 MTX2 Chirag Patel Marked gene: MTX2 as ready
Hypertension and Aldosterone disorders v1.17 MTX2 Chirag Patel Gene: mtx2 has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v1.17 Chirag Patel Copied gene MTX2 from panel Mendeliome
Hypertension and Aldosterone disorders v1.17 MTX2 Chirag Patel gene: MTX2 was added
gene: MTX2 was added to Hypertension and Aldosterone disorders. Sources: Expert Review Green,Literature
Mode of inheritance for gene: MTX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTX2 were set to 32917887
Phenotypes for gene: MTX2 were set to Mandibuloacral dysplasia progeroid syndrome, MIM# 619127; Mandibuloacral dysplasia; lipodystrophy; arterial calcification
Mosaic skin disorders v1.15 Bryony Thompson Copied gene FDFT1 from panel Ichthyosis and Porokeratosis
Mosaic skin disorders v1.15 FDFT1 Bryony Thompson gene: FDFT1 was added
gene: FDFT1 was added to Mosaic skin disorders. Sources: Expert Review Green,Literature
somatic tags were added to gene: FDFT1.
Mode of inheritance for gene: FDFT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FDFT1 were set to 38653249
Phenotypes for gene: FDFT1 were set to porokeratosis MONDO:0006602, FDFT1-related
Autoinflammatory Disorders v2.40 Bryony Thompson Copied gene FDFT1 from panel Ichthyosis and Porokeratosis
Autoinflammatory Disorders v2.40 FDFT1 Bryony Thompson gene: FDFT1 was added
gene: FDFT1 was added to Autoinflammatory Disorders. Sources: Expert Review Green,Literature
somatic tags were added to gene: FDFT1.
Mode of inheritance for gene: FDFT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FDFT1 were set to 38653249
Phenotypes for gene: FDFT1 were set to porokeratosis MONDO:0006602, FDFT1-related
Mendeliome v1.3701 FDFT1 Bryony Thompson Phenotypes for gene: FDFT1 were changed from squalene synthase deficiency MONDO:0032566 to squalene synthase deficiency MONDO:0032566; porokeratosis MONDO:0006602, FDFT1-related
Ichthyosis and Porokeratosis v1.22 FDFT1 Bryony Thompson Marked gene: FDFT1 as ready
Ichthyosis and Porokeratosis v1.22 FDFT1 Bryony Thompson Gene: fdft1 has been classified as Green List (High Evidence).
Mendeliome v1.3700 FDFT1 Bryony Thompson Publications for gene: FDFT1 were set to 29909962
Mendeliome v1.3699 FDFT1 Bryony Thompson Mode of inheritance for gene: FDFT1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Ichthyosis and Porokeratosis v1.22 FDFT1 Bryony Thompson Classified gene: FDFT1 as Green List (high evidence)
Ichthyosis and Porokeratosis v1.22 FDFT1 Bryony Thompson Gene: fdft1 has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v1.21 FDFT1 Bryony Thompson gene: FDFT1 was added
gene: FDFT1 was added to Ichthyosis and Porokeratosis. Sources: Literature
somatic tags were added to gene: FDFT1.
Mode of inheritance for gene: FDFT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FDFT1 were set to 38653249
Phenotypes for gene: FDFT1 were set to porokeratosis MONDO:0006602, FDFT1-related
Review for gene: FDFT1 was set to GREEN
Added comment: PMID: 38653249 - Skin lesions of 2 individuals with generalised porokeratosis had germline and lesion-specific somatic variants on opposite alleles in FDFT1, representing FDFT1-associated hereditary porokeratosis. Whereas, lesions of the solitary or linearly arranged localised form in 6 individuals had somatic biallelic promoter hypermethylation or monoallelic promoter hypermethylation with somatic genetic alterations on opposite alleles in FDFT1, indicating non-hereditary porokeratosis - gene-specific somatic epigenetic mosaicism. Porokeratosis is characterised as an autoinflammatory keratinisation disease
Sources: Literature
Mendeliome v1.3698 FDFT1 Bryony Thompson edited their review of gene: FDFT1: Added comment: PMID: 38653249 - Skin lesions of 2 individuals with generalised porokeratosis had germline and lesion-specific somatic variants on opposite alleles in FDFT1, representing FDFT1-associated hereditary porokeratosis. Whereas, lesions of the solitary or linearly arranged localised form in 6 individuals had somatic biallelic promoter hypermethylation or monoallelic promoter hypermethylation with somatic genetic alterations on opposite alleles in FDFT1, indicating non-hereditary porokeratosis - gene-specific somatic epigenetic mosaicism. Porokeratosis is characterised as an autoinflammatory keratinisation disease; Changed publications: 29909962, 38653249; Changed phenotypes: squalene synthase deficiency MONDO:0032566, porokeratosis MONDO:0006602, FDFT1-related; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Ichthyosis and Porokeratosis v1.20 Bryony Thompson Panel name changed from Ichthyosis to Ichthyosis and Porokeratosis
HPO terms changed from Ichthyosis, HP:0008064 to Ichthyosis, HP:0008064;Porokeratosis, HP:0200044
List of related panels changed from Ichthyosis; HP:0008064 to Ichthyosis; HP:0008064;Porokeratosis; HP:0200044
Autoinflammatory Disorders v2.39 PMVK Bryony Thompson Mode of inheritance for gene: PMVK was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Autoinflammatory Disorders v2.38 MVK Bryony Thompson Phenotypes for gene: MVK were changed from Hyper-IgD syndrome (MIM#260920); Mevalonic aciduria (MIM#610377) to Hyper-IgD syndrome (MIM#260920); Mevalonic aciduria (MIM#610377); porokeratosis 3, disseminated superficial actinic type MONDO:0008293
Autoinflammatory Disorders v2.37 PMVK Bryony Thompson Classified gene: PMVK as Green List (high evidence)
Autoinflammatory Disorders v2.37 PMVK Bryony Thompson Gene: pmvk has been classified as Green List (High Evidence).
Autoinflammatory Disorders v2.36 MVK Bryony Thompson Publications for gene: MVK were set to 29047407; 26409462
Ichthyosis and Porokeratosis v1.19 Bryony Thompson Copied gene MVD from panel Mendeliome
Ichthyosis and Porokeratosis v1.19 MVD Bryony Thompson gene: MVD was added
gene: MVD was added to Ichthyosis. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: MVD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MVD were set to 30942823; 33491095; 34135477
Phenotypes for gene: MVD were set to Porokeratosis 7, multiple types, MIM# 614714; Nonsyndromic genetic hearing loss MONDO:0019497, MVD-related, AR
Autoinflammatory Disorders v2.36 Bryony Thompson Copied gene MVD from panel Mendeliome
Autoinflammatory Disorders v2.36 MVD Bryony Thompson gene: MVD was added
gene: MVD was added to Autoinflammatory Disorders. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: MVD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MVD were set to 30942823; 33491095; 34135477
Phenotypes for gene: MVD were set to Porokeratosis 7, multiple types, MIM# 614714; Nonsyndromic genetic hearing loss MONDO:0019497, MVD-related, AR
Autoinflammatory Disorders v2.35 Bryony Thompson Added reviews for gene PMVK from panel Ichthyosis
Ichthyosis and Porokeratosis v1.18 PMVK Bryony Thompson Marked gene: PMVK as ready
Ichthyosis and Porokeratosis v1.18 PMVK Bryony Thompson Gene: pmvk has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v1.18 PMVK Bryony Thompson Classified gene: PMVK as Green List (high evidence)
Ichthyosis and Porokeratosis v1.18 PMVK Bryony Thompson Gene: pmvk has been classified as Green List (High Evidence).
Autoinflammatory Disorders v2.34 MVK Bryony Thompson Mode of inheritance for gene: MVK was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Ichthyosis and Porokeratosis v1.17 PMVK Bryony Thompson gene: PMVK was added
gene: PMVK was added to Ichthyosis. Sources: Literature
Mode of inheritance for gene: PMVK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PMVK were set to 41240373; 26202976
Phenotypes for gene: PMVK were set to porokeratosis 1, Mibelli type MONDO:0008290
Review for gene: PMVK was set to GREEN
gene: PMVK was marked as current diagnostic
Added comment: Well-established gene-disease association. Loss of function is the mechanism of disease. Characterised as an autoinflammatory keratinisation disease.
Sources: Literature
Autoinflammatory Disorders v2.33 Bryony Thompson Added reviews for gene MVK from panel Ichthyosis
Ichthyosis and Porokeratosis v1.16 MVK Bryony Thompson Marked gene: MVK as ready
Ichthyosis and Porokeratosis v1.16 MVK Bryony Thompson Gene: mvk has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v1.16 MVK Bryony Thompson Classified gene: MVK as Green List (high evidence)
Ichthyosis and Porokeratosis v1.16 MVK Bryony Thompson Gene: mvk has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v1.15 MVK Bryony Thompson gene: MVK was added
gene: MVK was added to Ichthyosis. Sources: Literature
Mode of inheritance for gene: MVK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MVK were set to 41240373; 26202976
Phenotypes for gene: MVK were set to porokeratosis 3, disseminated superficial actinic type MONDO:0008293
Review for gene: MVK was set to GREEN
gene: MVK was marked as current diagnostic
Added comment: Well-established gene-disease association. Loss of function is the mechanism of disease. Characterised as an autoinflammatory keratinisation disease.
Sources: Literature
Ichthyosis and Porokeratosis v1.14 Bryony Thompson Copied gene FDPS from panel Mendeliome
Ichthyosis and Porokeratosis v1.14 FDPS Bryony Thompson gene: FDPS was added
gene: FDPS was added to Ichthyosis. Sources: Expert Review Green,Literature
Mode of inheritance for gene: FDPS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FDPS were set to 26202976; 30561051; 38283795; 41240373
Phenotypes for gene: FDPS were set to porokeratosis 9, multiple types MONDO:0014713
Autoinflammatory Disorders v2.32 Bryony Thompson Copied gene FDPS from panel Mendeliome
Autoinflammatory Disorders v2.32 FDPS Bryony Thompson gene: FDPS was added
gene: FDPS was added to Autoinflammatory Disorders. Sources: Expert Review Green,Literature
Mode of inheritance for gene: FDPS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FDPS were set to 26202976; 30561051; 38283795; 41240373
Phenotypes for gene: FDPS were set to porokeratosis 9, multiple types MONDO:0014713
Mendeliome v1.3698 FDPS Bryony Thompson Marked gene: FDPS as ready
Mendeliome v1.3698 FDPS Bryony Thompson Gene: fdps has been classified as Green List (High Evidence).
Mendeliome v1.3698 FDPS Bryony Thompson Classified gene: FDPS as Green List (high evidence)
Mendeliome v1.3698 FDPS Bryony Thompson Gene: fdps has been classified as Green List (High Evidence).
Mendeliome v1.3697 FDPS Bryony Thompson gene: FDPS was added
gene: FDPS was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FDPS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FDPS were set to 26202976; 30561051; 38283795; 41240373
Phenotypes for gene: FDPS were set to porokeratosis 9, multiple types MONDO:0014713
Review for gene: FDPS was set to GREEN
Added comment: PMID 26202976 reports 4 individuals from 4 families with autosomal dominant loss‑of‑function FDPS variants causing extensive porokeratosis; PMID 30561051 adds 2 affected individuals from 1 family with disseminated superficial actinic porokeratosis; PMID 38283795 describes a single case of disseminated superficial porokeratosis; and PMID 41240373 reviews 22 individuals from the literature and an additional 3 families, with disseminated superficial actinic porokeratosis / disseminated superficial porokeratosis and genital porokeratosis.
Sources: Literature
Renal Tubulopathies and related disorders v1.22 SLC26A1 Zornitza Stark Marked gene: SLC26A1 as ready
Renal Tubulopathies and related disorders v1.22 SLC26A1 Zornitza Stark Gene: slc26a1 has been classified as Red List (Low Evidence).
Renal Tubulopathies and related disorders v1.22 SLC26A1 Zornitza Stark Tag disputed tag was added to gene: SLC26A1.
Infertility and Recurrent Pregnancy Loss v1.56 HELB Zornitza Stark Marked gene: HELB as ready
Infertility and Recurrent Pregnancy Loss v1.56 HELB Zornitza Stark Gene: helb has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.390 HELB Zornitza Stark Marked gene: HELB as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.390 HELB Zornitza Stark Gene: helb has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.390 Zornitza Stark Copied gene HELB from panel Mendeliome
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.390 HELB Zornitza Stark gene: HELB was added
gene: HELB was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: HELB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HELB were set to 41212051
Phenotypes for gene: HELB were set to Premature ovarian failure, MONDO:0019852, HELB-related
Infertility and Recurrent Pregnancy Loss v1.56 Zornitza Stark Copied gene HELB from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.56 HELB Zornitza Stark gene: HELB was added
gene: HELB was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: HELB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HELB were set to 41212051
Phenotypes for gene: HELB were set to Premature ovarian failure, MONDO:0019852, HELB-related
Mendeliome v1.3696 HELB Zornitza Stark Marked gene: HELB as ready
Mendeliome v1.3696 HELB Zornitza Stark Gene: helb has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3696 HELB Rylee Peters Classified gene: HELB as Amber List (moderate evidence)
Mendeliome v1.3696 HELB Rylee Peters Gene: helb has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3695 HELB Rylee Peters gene: HELB was added
gene: HELB was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: HELB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HELB were set to 41212051
Phenotypes for gene: HELB were set to Premature ovarian failure, MONDO:0019852, HELB-related
Review for gene: HELB was set to AMBER
Added comment: PMID: 41212051 reports three individuals from a single family with a heterozygous missense HELB c.349G>T (p.Asp117Tyr) presenting with premature ovarian insufficiency and early menopause. The variant co-segregates with disease across three generations and is absent from population databases. A mouse knock-in model recapitulates the POI phenotype; RNA-seq and transcriptomic analysis showed dysregulation of genes associated with ovarian function in Helb-mutated mice.
Sources: Literature
Differences of Sex Development v1.26 NOS1 Chirag Patel Marked gene: NOS1 as ready
Differences of Sex Development v1.26 NOS1 Chirag Patel Gene: nos1 has been classified as Green List (High Evidence).
Mendeliome v1.3694 NOS1 Chirag Patel Marked gene: NOS1 as ready
Mendeliome v1.3694 NOS1 Chirag Patel Gene: nos1 has been classified as Green List (High Evidence).
Differences of Sex Development v1.26 NOS1 Chirag Patel Classified gene: NOS1 as Green List (high evidence)
Differences of Sex Development v1.26 NOS1 Chirag Patel Gene: nos1 has been classified as Green List (High Evidence).
Mendeliome v1.3694 NOS1 Chirag Patel Classified gene: NOS1 as Green List (high evidence)
Mendeliome v1.3694 NOS1 Chirag Patel Gene: nos1 has been classified as Green List (High Evidence).
Mendeliome v1.3693 Chirag Patel Copied gene NOS1 from panel Pituitary hormone deficiency
Mendeliome v1.3693 NOS1 Chirag Patel gene: NOS1 was added
gene: NOS1 was added to Mendeliome. Sources: Expert Review Red,Literature
Mode of inheritance for gene: NOS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NOS1 were set to 36197968
Phenotypes for gene: NOS1 were set to Hypogonadotropic hypogonadism, MONDO:0018555
Pituitary hormone deficiency v0.78 NOS1 Chirag Patel Classified gene: NOS1 as Green List (high evidence)
Pituitary hormone deficiency v0.78 NOS1 Chirag Patel Gene: nos1 has been classified as Green List (High Evidence).
Differences of Sex Development v1.25 Chirag Patel Copied gene NOS1 from panel Pituitary hormone deficiency
Differences of Sex Development v1.25 NOS1 Chirag Patel gene: NOS1 was added
gene: NOS1 was added to Differences of Sex Development. Sources: Expert Review Red,Literature
Mode of inheritance for gene: NOS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NOS1 were set to 36197968
Phenotypes for gene: NOS1 were set to Hypogonadotropic hypogonadism, MONDO:0018555
Pituitary hormone deficiency v0.77 NOS1 Chirag Patel Marked gene: NOS1 as ready
Pituitary hormone deficiency v0.77 NOS1 Chirag Patel Gene: nos1 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.77 NOS1 Chirag Patel gene: NOS1 was added
gene: NOS1 was added to Pituitary hormone deficiency. Sources: Literature
Mode of inheritance for gene: NOS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NOS1 were set to 36197968
Phenotypes for gene: NOS1 were set to Hypogonadotropic hypogonadism, MONDO:0018555
Review for gene: NOS1 was set to GREEN
Added comment: 6 unrelated individuals with congenital hypogonadotropic hypogonadism, anosmia (3/6), hearing loss (2/6), and intellectual disability (1/6). WES identified 5 rare heterozygous missense variants in NOS1 gene. The variant was inherited from an unaffected or partially affected parent in 4 families.

In‑vitro assays (Western blot, calcium‑induced NO release, fluorometric nitrate assay, co‑immunoprecipitation) showed loss‑of‑function and dominant‑negative activity. NOS1 was found to be transiently expressed by GnRH neurons in the nose of both humans and mice, and Nos1 deficiency in mice resulted in dose-dependent defects in sexual maturation as well as in olfaction, hearing, and cognition. Inhaled NO treatment at minipuberty rescued both reproductive and behavioral phenotypes in Nos1-deficient mice.
Sources: Literature
Regression v0.597 COX4I1 Lucy Spencer Classified gene: COX4I1 as Green List (high evidence)
Regression v0.597 COX4I1 Lucy Spencer Gene: cox4i1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1092 COX4I1 Lucy Spencer Classified gene: COX4I1 as Green List (high evidence)
Mitochondrial disease v0.1092 COX4I1 Lucy Spencer Gene: cox4i1 has been classified as Green List (High Evidence).
Microcephaly v1.372 COX4I1 Lucy Spencer Classified gene: COX4I1 as Green List (high evidence)
Microcephaly v1.372 COX4I1 Lucy Spencer Gene: cox4i1 has been classified as Green List (High Evidence).
Mendeliome v1.3692 COX4I1 Lucy Spencer Classified gene: COX4I1 as Green List (high evidence)
Mendeliome v1.3692 COX4I1 Lucy Spencer Gene: cox4i1 has been classified as Green List (High Evidence).
Mendeliome v1.3691 SLC6A9 Zornitza Stark Phenotypes for gene: SLC6A9 were changed from Glycine encephalopathy with normal serum glycine, MIM# 617301 to Glycine encephalopathy with normal serum glycine, MIM# 617301; Scoliosis, isolated, susceptibility to, 6, MIM# 621428
Mendeliome v1.3690 SLC6A9 Zornitza Stark Mode of inheritance for gene: SLC6A9 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.3689 SLC6A9 Zornitza Stark edited their review of gene: SLC6A9: Added comment: 26 patients from 5 families with adolescent idiopathic scoliosis. Plasma glycine concentration measured in 15 patients was elevated compared to that in 36 unaffected controls. In addition, surface electromyography in 2 affected children showed aberrant paraspinal muscle activity, which was not observed in affected adults, suggesting an etiology for the spinal curvature occurring during the developmental period.

Two different missense variants reported. Functional studies indicated a dominant negative effect. In zebrafish, mutant glyt1 protein was shown to exhibit dominant-negative effects over the wildtype protein. All slc6A9 hmz m/m fish died by 18 days postfertilization (dpf), whereas about half of the slc6A9 het m/+ fish survived to 30 dpf. Glycine levels were elevated in the slc6A9 m/m fish, and at 7 dpf the majority of the mutant fish had a lateral axial curvature. In addition, some of the slc6A9 m/+ fish also had a lateral axial curvature, which persisted through day 100 dpf. The spinal curvature was rescued by expression of wildtype SLC6A9 but not with expression of SLC6A9 with a Y206F or R662W mutation. Treatment of the slc6A9 m/m fish with benzoate, a glycine neutralizer, moderately improved the curvature phenotype; Changed publications: 27481395, 27773429, 14622582, 33269555, 37962965; Changed phenotypes: Glycine encephalopathy with normal serum glycine, MIM# 617301, Scoliosis, isolated, susceptibility to, 6, MIM# 621428; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v1.456 TRA2B Zornitza Stark Phenotypes for gene: TRA2B were changed from Neurodevelopmental disorder, TRA2B-related, MONDO# 0700092 to Ramond-Elliott neurodevelopmental syndrome, MIM# 621421
Intellectual disability syndromic and non-syndromic v1.455 TRA2B Zornitza Stark reviewed gene: TRA2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ramond-Elliott neurodevelopmental syndrome, MIM# 621421; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v1.287 TRA2B Zornitza Stark Phenotypes for gene: TRA2B were changed from Neurodevelopmental disorder, TRA2B-related (MONDO#0700092) to Ramond-Elliott neurodevelopmental syndrome, MIM# 621421
Mendeliome v1.3689 Chirag Patel Added reviews for gene GJA5 from panel Congenital Heart Defect
Genetic Epilepsy v1.286 TRA2B Zornitza Stark reviewed gene: TRA2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ramond-Elliott neurodevelopmental syndrome, MIM# 621421; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Heart Defect v0.505 GJA5 Chirag Patel Marked gene: GJA5 as ready
Congenital Heart Defect v0.505 GJA5 Chirag Patel Gene: gja5 has been classified as Red List (Low Evidence).
Microcephaly v1.371 TRA2B Zornitza Stark Phenotypes for gene: TRA2B were changed from Neurodevelopmental disorder, TRA2B-related, MONDO# 0700092 to Ramond-Elliott neurodevelopmental syndrome, MIM# 621421
Microcephaly v1.370 TRA2B Zornitza Stark reviewed gene: TRA2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ramond-Elliott neurodevelopmental syndrome, MIM# 621421; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Heart Defect v0.505 GJA5 Chirag Patel gene: GJA5 was added
gene: GJA5 was added to Congenital Heart Defect. Sources: ClinGen
disputed tags were added to gene: GJA5.
Mode of inheritance for gene: GJA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GJA5 were set to Congenital heart disease, MONDO:0005453
Review for gene: GJA5 was set to RED
Added comment: ClinGen DISPUTED - Apr 2024
Sources: ClinGen
Mendeliome v1.3688 Chirag Patel Copied gene HDAC1 from panel Congenital Heart Defect
Mendeliome v1.3688 HDAC1 Chirag Patel gene: HDAC1 was added
gene: HDAC1 was added to Mendeliome. Sources: Expert Review Red,ClinGen
disputed tags were added to gene: HDAC1.
Mode of inheritance for gene: HDAC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HDAC1 were set to Congenital heart disease, MONDO:0005453
Congenital Heart Defect v0.504 HDAC1 Chirag Patel Marked gene: HDAC1 as ready
Congenital Heart Defect v0.504 HDAC1 Chirag Patel Gene: hdac1 has been classified as Red List (Low Evidence).
Congenital Heart Defect v0.504 HDAC1 Chirag Patel gene: HDAC1 was added
gene: HDAC1 was added to Congenital Heart Defect. Sources: ClinGen
disputed tags were added to gene: HDAC1.
Mode of inheritance for gene: HDAC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HDAC1 were set to Congenital heart disease, MONDO:0005453
Review for gene: HDAC1 was set to RED
Added comment: ClinGen DISPUTED - Jan 2024
Sources: ClinGen
Congenital Heart Defect v0.503 COL1A2 Chirag Patel Marked gene: COL1A2 as ready
Congenital Heart Defect v0.503 COL1A2 Chirag Patel Gene: col1a2 has been classified as Red List (Low Evidence).
Congenital Heart Defect v0.503 COL1A2 Chirag Patel gene: COL1A2 was added
gene: COL1A2 was added to Congenital Heart Defect. Sources: ClinGen
disputed tags were added to gene: COL1A2.
Mode of inheritance for gene: COL1A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COL1A2 were set to Congenital heart disease, MONDO:0005453
Review for gene: COL1A2 was set to RED
Added comment: ClinGen DISPUTED - Sep 2024
Sources: ClinGen
Mendeliome v1.3687 TRA2B Zornitza Stark Phenotypes for gene: TRA2B were changed from Neurodevelopmental disorder, TRA2B-related, MONDO# 0700092 to Ramond-Elliott neurodevelopmental syndrome, MIM# 621421
Mendeliome v1.3686 TRA2B Zornitza Stark reviewed gene: TRA2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ramond-Elliott neurodevelopmental syndrome, MIM# 621421; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Heart Defect v0.502 SCN5A Chirag Patel Marked gene: SCN5A as ready
Congenital Heart Defect v0.502 SCN5A Chirag Patel Gene: scn5a has been classified as Red List (Low Evidence).
Congenital Heart Defect v0.502 SCN5A Chirag Patel gene: SCN5A was added
gene: SCN5A was added to Congenital Heart Defect. Sources: ClinGen
disputed tags were added to gene: SCN5A.
Mode of inheritance for gene: SCN5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SCN5A were set to Congenital heart disease, MONDO:0005453
Review for gene: SCN5A was set to RED
Added comment: ClinGen DISPUTED - Dec 2024
Sources: ClinGen
Congenital Heart Defect v0.501 ID2 Chirag Patel gene: ID2 was added
gene: ID2 was added to Congenital Heart Defect. Sources: ClinGen
disputed tags were added to gene: ID2.
Mode of inheritance for gene: ID2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ID2 were set to Congenital heart disease, MONDO:0005453
Review for gene: ID2 was set to RED
Added comment: ClinGen DISPUTED - Nov 2023
Sources: ClinGen
Congenital Heart Defect v0.501 ID2 Chirag Patel gene: ID2 was added
gene: ID2 was added to Congenital Heart Defect. Sources: ClinGen
disputed tags were added to gene: ID2.
Mode of inheritance for gene: ID2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ID2 were set to Congenital heart disease, MONDO:0005453
Review for gene: ID2 was set to RED
Added comment: ClinGen DISPUTED - Nov 2023
Sources: ClinGen
Mendeliome v1.3686 Chirag Patel Added reviews for gene DAND5 from panel Heterotaxy
Congenital Heart Defect v0.500 DAND5 Chirag Patel gene: DAND5 was added
gene: DAND5 was added to Congenital Heart Defect. Sources: ClinGen
disputed tags were added to gene: DAND5.
Mode of inheritance for gene: DAND5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DAND5 were set to Congenital heart disease, MONDO:0005453
Review for gene: DAND5 was set to RED
Added comment: ClinGen DISPUTED - Jun 2024
Sources: ClinGen
Congenital Heart Defect v0.500 DAND5 Chirag Patel gene: DAND5 was added
gene: DAND5 was added to Congenital Heart Defect. Sources: ClinGen
disputed tags were added to gene: DAND5.
Mode of inheritance for gene: DAND5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DAND5 were set to Congenital heart disease, MONDO:0005453
Review for gene: DAND5 was set to RED
Added comment: ClinGen DISPUTED - Jun 2024
Sources: ClinGen
Mendeliome v1.3685 Chirag Patel Added reviews for gene UGDH from panel Congenital Heart Defect
Mendeliome v1.3684 Chirag Patel Added reviews for gene NFATC2 from panel Congenital Heart Defect
Mendeliome v1.3684 Chirag Patel Copied gene PROX1 from panel Congenital Heart Defect
Mendeliome v1.3684 PROX1 Chirag Patel gene: PROX1 was added
gene: PROX1 was added to Mendeliome. Sources: Expert Review Red,ClinGen
disputed tags were added to gene: PROX1.
Mode of inheritance for gene: PROX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PROX1 were set to Congenital heart disease, MONDO:0005453
Congenital Heart Defect v0.499 PROX1 Chirag Patel Marked gene: PROX1 as ready
Congenital Heart Defect v0.499 PROX1 Chirag Patel Gene: prox1 has been classified as Red List (Low Evidence).
Congenital Heart Defect v0.499 NFATC2 Chirag Patel Marked gene: NFATC2 as ready
Congenital Heart Defect v0.499 NFATC2 Chirag Patel Gene: nfatc2 has been classified as Red List (Low Evidence).
Congenital Heart Defect v0.499 UGDH Chirag Patel Marked gene: UGDH as ready
Congenital Heart Defect v0.499 UGDH Chirag Patel Gene: ugdh has been classified as Red List (Low Evidence).
Congenital Heart Defect v0.499 PROX1 Chirag Patel gene: PROX1 was added
gene: PROX1 was added to Congenital Heart Defect. Sources: ClinGen
disputed tags were added to gene: PROX1.
Mode of inheritance for gene: PROX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PROX1 were set to Congenital heart disease, MONDO:0005453
Review for gene: PROX1 was set to RED
Added comment: ClinGen DISPUTED - Aug 2024
Sources: ClinGen
Congenital Heart Defect v0.498 NFATC2 Chirag Patel gene: NFATC2 was added
gene: NFATC2 was added to Congenital Heart Defect. Sources: ClinGen
disputed tags were added to gene: NFATC2.
Mode of inheritance for gene: NFATC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NFATC2 were set to Congenital heart disease, MONDO:0005453
Review for gene: NFATC2 was set to RED
Added comment: ClinGen DISPUTED - Mar 2024
Sources: ClinGen
Congenital Heart Defect v0.498 UGDH Chirag Patel gene: UGDH was added
gene: UGDH was added to Congenital Heart Defect. Sources: ClinGen
disputed tags were added to gene: UGDH.
Mode of inheritance for gene: UGDH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: UGDH were set to Congenital heart disease, MONDO:0005453
Review for gene: UGDH was set to RED
Added comment: ClinGen DISPUTED - Jun 2024
Sources: ClinGen
Mendeliome v1.3683 Chirag Patel Copied gene RAI2 from panel Congenital Heart Defect
Mendeliome v1.3683 RAI2 Chirag Patel gene: RAI2 was added
gene: RAI2 was added to Mendeliome. Sources: Expert Review Red,ClinGen
disputed tags were added to gene: RAI2.
Mode of inheritance for gene: RAI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RAI2 were set to Congenital heart disease, MONDO:0005453
Mendeliome v1.3682 Chirag Patel Added reviews for gene NFATC1 from panel Congenital Heart Defect
Congenital Heart Defect v0.497 RAI2 Chirag Patel Marked gene: RAI2 as ready
Congenital Heart Defect v0.497 RAI2 Chirag Patel Gene: rai2 has been classified as Red List (Low Evidence).
Congenital Heart Defect v0.497 RAI2 Chirag Patel gene: RAI2 was added
gene: RAI2 was added to Congenital Heart Defect. Sources: ClinGen
disputed tags were added to gene: RAI2.
Mode of inheritance for gene: RAI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RAI2 were set to Congenital heart disease, MONDO:0005453
Review for gene: RAI2 was set to RED
Added comment: ClinGen DISPUTED - Apr 2024
Sources: ClinGen
Congenital Heart Defect v0.496 NFATC1 Chirag Patel Marked gene: NFATC1 as ready
Congenital Heart Defect v0.496 NFATC1 Chirag Patel Gene: nfatc1 has been classified as Red List (Low Evidence).
Congenital Heart Defect v0.496 NFATC1 Chirag Patel gene: NFATC1 was added
gene: NFATC1 was added to Congenital Heart Defect. Sources: ClinGen
disputed tags were added to gene: NFATC1.
Mode of inheritance for gene: NFATC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NFATC1 were set to Congenital heart disease, MONDO:0005453
Review for gene: NFATC1 was set to RED
Added comment: ClinGen DISPUTED - Jul 2023
Sources: ClinGen
Mendeliome v1.3681 Chirag Patel Added reviews for gene CTNNA3 from panel Congenital Heart Defect
Congenital Heart Defect v0.495 CTNNA3 Chirag Patel Marked gene: CTNNA3 as ready
Congenital Heart Defect v0.495 CTNNA3 Chirag Patel Gene: ctnna3 has been classified as Red List (Low Evidence).
Congenital Heart Defect v0.495 CTNNA3 Chirag Patel gene: CTNNA3 was added
gene: CTNNA3 was added to Congenital Heart Defect. Sources: ClinGen
disputed tags were added to gene: CTNNA3.
Mode of inheritance for gene: CTNNA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CTNNA3 were set to Congenital heart disease, MONDO:0005453
Review for gene: CTNNA3 was set to RED
Added comment: ClinGen DISPUTED - Oct 2023
Sources: ClinGen
Mendeliome v1.3680 Chirag Patel Copied gene NTRK3 from panel Congenital Heart Defect
Mendeliome v1.3680 NTRK3 Chirag Patel gene: NTRK3 was added
gene: NTRK3 was added to Mendeliome. Sources: Expert Review Red,ClinGen
disputed tags were added to gene: NTRK3.
Mode of inheritance for gene: NTRK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NTRK3 were set to Congenital heart disease, MONDO:0005453
Mendeliome v1.3680 Chirag Patel Copied gene HEY1 from panel Congenital Heart Defect
Mendeliome v1.3680 HEY1 Chirag Patel gene: HEY1 was added
gene: HEY1 was added to Mendeliome. Sources: Expert Review Red,ClinGen
disputed tags were added to gene: HEY1.
Mode of inheritance for gene: HEY1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HEY1 were set to Congenital heart disease, MONDO:0005453
Congenital Heart Defect v0.494 HEY1 Chirag Patel Marked gene: HEY1 as ready
Congenital Heart Defect v0.494 HEY1 Chirag Patel Gene: hey1 has been classified as Red List (Low Evidence).
Congenital Heart Defect v0.494 NTRK3 Chirag Patel Marked gene: NTRK3 as ready
Congenital Heart Defect v0.494 NTRK3 Chirag Patel Gene: ntrk3 has been classified as Red List (Low Evidence).
Congenital Heart Defect v0.494 NTRK3 Chirag Patel gene: NTRK3 was added
gene: NTRK3 was added to Congenital Heart Defect. Sources: ClinGen
disputed tags were added to gene: NTRK3.
Mode of inheritance for gene: NTRK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NTRK3 were set to Congenital heart disease, MONDO:0005453
Review for gene: NTRK3 was set to RED
Added comment: ClinGen DISPUTED - Feb 2024
Sources: ClinGen
Congenital Heart Defect v0.494 HEY1 Chirag Patel gene: HEY1 was added
gene: HEY1 was added to Congenital Heart Defect. Sources: ClinGen
disputed tags were added to gene: HEY1.
Mode of inheritance for gene: HEY1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HEY1 were set to Congenital heart disease, MONDO:0005453
Review for gene: HEY1 was set to RED
Added comment: ClinGen DISPUTED - Aug 2024
Sources: ClinGen
Congenital Heart Defect v0.493 OSR1 Chirag Patel Marked gene: OSR1 as ready
Congenital Heart Defect v0.493 OSR1 Chirag Patel Gene: osr1 has been classified as Red List (Low Evidence).
Mendeliome v1.3679 OSR1 Chirag Patel changed review comment from: ClinGen DISPUTED - Aug 2024; to: ClinGen DISPUTED - Apr 2024
Congenital Heart Defect v0.493 OSR1 Chirag Patel gene: OSR1 was added
gene: OSR1 was added to Congenital Heart Defect. Sources: ClinGen
disputed tags were added to gene: OSR1.
Mode of inheritance for gene: OSR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: OSR1 were set to Congenital heart disease, MONDO:0005453
Review for gene: OSR1 was set to RED
Added comment: ClinGen DISPUTED - Apr 2024
Sources: ClinGen
Mendeliome v1.3679 OSR1 Chirag Patel reviewed gene: OSR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.3679 OSR1 Chirag Patel Mode of inheritance for gene: OSR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.3679 OSR1 Chirag Patel Phenotypes for gene: OSR1 were changed from to Congenital heart disease, MONDO:0005453
Mendeliome v1.3678 Chirag Patel Added reviews for gene LEFTY2 from panel Congenital Heart Defect
Congenital Heart Defect v0.492 LEFTY2 Chirag Patel Marked gene: LEFTY2 as ready
Congenital Heart Defect v0.492 LEFTY2 Chirag Patel Gene: lefty2 has been classified as Red List (Low Evidence).
Congenital Heart Defect v0.492 LEFTY2 Chirag Patel gene: LEFTY2 was added
gene: LEFTY2 was added to Congenital Heart Defect. Sources: ClinGen
disputed tags were added to gene: LEFTY2.
Mode of inheritance for gene: LEFTY2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LEFTY2 were set to Congenital heart disease, MONDO:0005453
Review for gene: LEFTY2 was set to RED
Added comment: ClinGen DISPUTED - Feb 2024
Sources: ClinGen
Mendeliome v1.3677 Chirag Patel Copied gene CSRP1 from panel Congenital Heart Defect
Mendeliome v1.3677 CSRP1 Chirag Patel gene: CSRP1 was added
gene: CSRP1 was added to Mendeliome. Sources: Expert Review Red,ClinGen
disputed tags were added to gene: CSRP1.
Mode of inheritance for gene: CSRP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CSRP1 were set to Congenital heart disease, MONDO:0005453
Mendeliome v1.3677 Chirag Patel Copied gene ATE1 from panel Congenital Heart Defect
Mendeliome v1.3677 ATE1 Chirag Patel gene: ATE1 was added
gene: ATE1 was added to Mendeliome. Sources: Expert Review Red,ClinGen
disputed tags were added to gene: ATE1.
Mode of inheritance for gene: ATE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATE1 were set to Congenital heart disease, MONDO:0005453
Congenital Heart Defect v0.491 CSRP1 Chirag Patel Marked gene: CSRP1 as ready
Congenital Heart Defect v0.491 CSRP1 Chirag Patel Gene: csrp1 has been classified as Red List (Low Evidence).
Congenital Heart Defect v0.491 CSRP1 Chirag Patel gene: CSRP1 was added
gene: CSRP1 was added to Congenital Heart Defect. Sources: ClinGen
disputed tags were added to gene: CSRP1.
Mode of inheritance for gene: CSRP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CSRP1 were set to Congenital heart disease, MONDO:0005453
Review for gene: CSRP1 was set to RED
Added comment: ClinGen DISPUTED - Jul 2024
Sources: ClinGen
Congenital Heart Defect v0.490 ATE1 Chirag Patel Marked gene: ATE1 as ready
Congenital Heart Defect v0.490 ATE1 Chirag Patel Gene: ate1 has been classified as Red List (Low Evidence).
Congenital Heart Defect v0.490 ATE1 Chirag Patel gene: ATE1 was added
gene: ATE1 was added to Congenital Heart Defect. Sources: ClinGen
disputed tags were added to gene: ATE1.
Mode of inheritance for gene: ATE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATE1 were set to Congenital heart disease, MONDO:0005453
Review for gene: ATE1 was set to RED
Added comment: ClinGen DISPUTED - Aug 2023
Sources: ClinGen
Congenital Heart Defect v0.489 DCHS1 Chirag Patel Marked gene: DCHS1 as ready
Congenital Heart Defect v0.489 DCHS1 Chirag Patel Gene: dchs1 has been classified as Red List (Low Evidence).
Mendeliome v1.3676 FOXL1 Chirag Patel Phenotypes for gene: FOXL1 were changed from Otosclerosis 11 #MIM620576 to Otosclerosis 11 #MIM620576; Congenital heart disease, MONDO:0005453
Congenital Heart Defect v0.489 DCHS1 Chirag Patel gene: DCHS1 was added
gene: DCHS1 was added to Congenital Heart Defect. Sources: ClinGen
disputed tags were added to gene: DCHS1.
Mode of inheritance for gene: DCHS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DCHS1 were set to Congenital heart disease, MONDO:0005453
Review for gene: DCHS1 was set to RED
Added comment: ClinGen DISPUTED - Feb 2024
Sources: ClinGen
Mendeliome v1.3675 Chirag Patel Added reviews for gene FOXL1 from panel Congenital Heart Defect
Congenital Heart Defect v0.488 FOXL1 Chirag Patel Marked gene: FOXL1 as ready
Congenital Heart Defect v0.488 FOXL1 Chirag Patel Gene: foxl1 has been classified as Red List (Low Evidence).
Congenital Heart Defect v0.488 FOXL1 Chirag Patel gene: FOXL1 was added
gene: FOXL1 was added to Congenital Heart Defect. Sources: ClinGen
disputed tags were added to gene: FOXL1.
Mode of inheritance for gene: FOXL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FOXL1 were set to Congenital heart disease, MONDO:0005453
Review for gene: FOXL1 was set to RED
Added comment: ClinGen DISPUTED - Nov 2023
Sources: ClinGen
Mendeliome v1.3674 Chirag Patel Copied gene FMO5 from panel Congenital Heart Defect
Mendeliome v1.3674 FMO5 Chirag Patel gene: FMO5 was added
gene: FMO5 was added to Mendeliome. Sources: Expert Review Red,ClinGen
disputed tags were added to gene: FMO5.
Mode of inheritance for gene: FMO5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FMO5 were set to Congenital heart disease, MONDO:0005453
Congenital Heart Defect v0.487 FMO5 Chirag Patel Marked gene: FMO5 as ready
Congenital Heart Defect v0.487 FMO5 Chirag Patel Gene: fmo5 has been classified as Red List (Low Evidence).
Congenital Heart Defect v0.487 FMO5 Chirag Patel gene: FMO5 was added
gene: FMO5 was added to Congenital Heart Defect. Sources: ClinGen
disputed tags were added to gene: FMO5.
Mode of inheritance for gene: FMO5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FMO5 were set to Congenital heart disease, MONDO:0005453
Review for gene: FMO5 was set to RED
Added comment: ClinGen DISPUTED - Nov 2023
Sources: ClinGen
Congenital Heart Defect v0.486 DTNA Chirag Patel Marked gene: DTNA as ready
Congenital Heart Defect v0.486 DTNA Chirag Patel Gene: dtna has been classified as Red List (Low Evidence).
Mendeliome v1.3673 Chirag Patel Added reviews for gene DTNA from panel Congenital Heart Defect
Mendeliome v1.3672 Chirag Patel Added reviews for gene DTNA from panel Congenital Heart Defect
Congenital Heart Defect v0.486 DTNA Chirag Patel gene: DTNA was added
gene: DTNA was added to Congenital Heart Defect. Sources: ClinGen
disputed tags were added to gene: DTNA.
Mode of inheritance for gene: DTNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DTNA were set to Congenital heart disease, MONDO:0005453
Review for gene: DTNA was set to RED
Added comment: ClinGen DISPUTED - Feb 2024
Sources: ClinGen
Congenital Heart Defect v0.485 FOXP1 Chirag Patel Classified gene: FOXP1 as Red List (low evidence)
Congenital Heart Defect v0.485 FOXP1 Chirag Patel Gene: foxp1 has been classified as Red List (Low Evidence).
Congenital Heart Defect v0.485 FOXP1 Chirag Patel Classified gene: FOXP1 as Red List (low evidence)
Congenital Heart Defect v0.485 FOXP1 Chirag Patel Gene: foxp1 has been classified as Red List (Low Evidence).
Congenital Heart Defect v0.484 FOXP1 Chirag Patel Tag disputed tag was added to gene: FOXP1.
Congenital Heart Defect v0.484 FOXP1 Chirag Patel reviewed gene: FOXP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: congenital heart disease, MONDO:0005453; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v1.286 ZDHHC15 Chirag Patel Tag disputed tag was added to gene: ZDHHC15.
Callosome v0.573 LAMC3 Chirag Patel Mode of inheritance for gene: LAMC3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.573 LAMC3 Chirag Patel Mode of inheritance for gene: LAMC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.572 LAMC3 Chirag Patel Phenotypes for gene: LAMC3 were changed from Cortical malformations, occipital, MIM#614115 to Cortical malformations, occipital, MIM#614115
Callosome v0.572 LAMC3 Chirag Patel Phenotypes for gene: LAMC3 were changed from Cortical malformations, occipital, MIM#614115 to Cortical malformations, occipital, MIM#614115
Callosome v0.571 LAMC3 Chirag Patel Phenotypes for gene: LAMC3 were changed from Cortical malformations, occipital, MIM#614115 to Cortical malformations, occipital, MIM#614115
Callosome v0.571 LAMC3 Chirag Patel Phenotypes for gene: LAMC3 were changed from to Cortical malformations, occipital, MIM#614115
Callosome v0.570 LAMC3 Chirag Patel Deleted their comment
Callosome v0.570 LAMC3 Chirag Patel edited their review of gene: LAMC3: Added comment: Occipital cortical malformations not corpus callosum; Changed phenotypes: Cortical malformations, occipital, MIM#614115; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.570 LAMC3 Chirag Patel Classified gene: LAMC3 as Red List (low evidence)
Callosome v0.570 LAMC3 Chirag Patel Gene: lamc3 has been classified as Red List (Low Evidence).
Callosome v0.570 LAMC3 Chirag Patel reviewed gene: LAMC3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Callosome v0.570 LAMC3 Chirag Patel Classified gene: LAMC3 as Red List (low evidence)
Callosome v0.570 LAMC3 Chirag Patel Gene: lamc3 has been classified as Red List (Low Evidence).
Autism v0.230 MET Chirag Patel Phenotypes for gene: MET were changed from ?Deafness, autosomal recessive 97, OMIM #616705; {Osteofibrous dysplasia, susceptibility to}, OMIM #607278 to complex neurodevelopmental disorder, MONDO:0100038
Autism v0.229 MET Chirag Patel Tag disputed tag was added to gene: MET.
Autism v0.229 MET Chirag Patel edited their review of gene: MET: Added comment: ClinGen DISPUTED - Jan 2021; Changed phenotypes: complex neurodevelopmental disorder, MONDO:0100038; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v1.455 LAMC3 Chirag Patel Classified gene: LAMC3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.455 LAMC3 Chirag Patel Gene: lamc3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.455 LAMC3 Chirag Patel Classified gene: LAMC3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.455 LAMC3 Chirag Patel Gene: lamc3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.454 MET Chirag Patel Phenotypes for gene: MET were changed from ?Deafness, autosomal recessive 97, OMIM #616705; {Osteofibrous dysplasia, susceptibility to}, OMIM #607278 to complex neurodevelopmental disorder, MONDO:0100038
Intellectual disability syndromic and non-syndromic v1.454 MET Chirag Patel Mode of inheritance for gene: MET was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v1.453 MET Chirag Patel Tag disputed tag was added to gene: MET.
Intellectual disability syndromic and non-syndromic v1.453 MET Chirag Patel edited their review of gene: MET: Added comment: ClinGen DISPUTED - Jan 2021; Changed phenotypes: complex neurodevelopmental disorder, MONDO:0100038; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.229 RELN Chirag Patel Tag disputed tag was added to gene: RELN.
Intellectual disability syndromic and non-syndromic v1.453 Chirag Patel Added reviews for gene FAAH2 from panel Mendeliome
Mendeliome v1.3671 CLIC2 Chirag Patel Tag disputed tag was added to gene: CLIC2.
Mendeliome v1.3671 Chirag Patel Copied gene EN2 from panel Intellectual disability syndromic and non-syndromic
Mendeliome v1.3671 EN2 Chirag Patel gene: EN2 was added
gene: EN2 was added to Mendeliome. Sources: Expert Review Red,ClinGen
disputed tags were added to gene: EN2.
Mode of inheritance for gene: EN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EN2 were set to Complex neurodevelopmental disorder, MONDO:0100038
Intellectual disability syndromic and non-syndromic v1.452 EN2 Chirag Patel Marked gene: EN2 as ready
Intellectual disability syndromic and non-syndromic v1.452 EN2 Chirag Patel Gene: en2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v1.452 EN2 Chirag Patel gene: EN2 was added
gene: EN2 was added to Intellectual disability syndromic and non-syndromic. Sources: ClinGen
disputed tags were added to gene: EN2.
Mode of inheritance for gene: EN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EN2 were set to Complex neurodevelopmental disorder, MONDO:0100038
Review for gene: EN2 was set to RED
Added comment: ClinGen DISPUTED - Feb 2021

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_91eb2fc6-864c-4a4a-9b2d-0b2bdd695999-2021-02-16T170000.000Z?page=1&size=25&search=
Sources: ClinGen
Mendeliome v1.3670 CNTN4 Chirag Patel Mode of inheritance for gene: CNTN4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.3670 CNTN4 Chirag Patel Mode of inheritance for gene: CNTN4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.229 CNTN4 Chirag Patel Phenotypes for gene: CNTN4 were changed from complex neurodevelopmental disorder, MONDO:0100038 to complex neurodevelopmental disorder, MONDO:0100038
Autism v0.230 CNTN4 Chirag Patel Phenotypes for gene: CNTN4 were changed from complex neurodevelopmental disorder, MONDO:0100038 to complex neurodevelopmental disorder, MONDO:0100038
Autism v0.230 CNTN4 Chirag Patel Phenotypes for gene: CNTN4 were changed from complex neurodevelopmental disorder, MONDO:0100038 to complex neurodevelopmental disorder, MONDO:0100038
Intellectual disability syndromic and non-syndromic v1.451 KATNAL2 Chirag Patel Tag disputed tag was added to gene: KATNAL2.
Autism v0.230 CNTN4 Chirag Patel Phenotypes for gene: CNTN4 were changed from complex neurodevelopmental disorder, MONDO:0100038 to complex neurodevelopmental disorder, MONDO:0100038
Autism v0.230 CNTN4 Chirag Patel Phenotypes for gene: CNTN4 were changed from complex neurodevelopmental disorder, MONDO:0100038 to complex neurodevelopmental disorder, MONDO:0100038
Mendeliome v1.3669 KIRREL3 Chirag Patel reviewed gene: KIRREL3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Autism v0.229 CNTN4 Chirag Patel Phenotypes for gene: CNTN4 were changed from complex neurodevelopmental disorder, MONDO:0100038 to complex neurodevelopmental disorder, MONDO:0100038
Mendeliome v1.3669 KIRREL3 Chirag Patel Tag refuted was removed from gene: KIRREL3.
Tag disputed tag was added to gene: KIRREL3.
Autism v0.229 CNTN4 Chirag Patel Phenotypes for gene: CNTN4 were changed from complex neurodevelopmental disorder, MONDO:0100038 to complex neurodevelopmental disorder, MONDO:0100038
Intellectual disability syndromic and non-syndromic v1.451 KIRREL3 Chirag Patel Tag refuted was removed from gene: KIRREL3.
Tag disputed tag was added to gene: KIRREL3.
Autism v0.229 CNTN4 Chirag Patel Phenotypes for gene: CNTN4 were changed from complex neurodevelopmental disorder, MONDO:0100038 to complex neurodevelopmental disorder, MONDO:0100038
Autism v0.229 CNTN4 Chirag Patel Phenotypes for gene: CNTN4 were changed from complex neurodevelopmental disorder, MONDO:0100038 to complex neurodevelopmental disorder, MONDO:0100038
Autism v0.229 CNTN4 Chirag Patel Phenotypes for gene: CNTN4 were changed from complex neurodevelopmental disorder, MONDO:0100038 to complex neurodevelopmental disorder, MONDO:0100038
Autism v0.229 CNTN4 Chirag Patel Phenotypes for gene: CNTN4 were changed from Intellectual disability; SCA to complex neurodevelopmental disorder, MONDO:0100038
Autism v0.228 CNTN4 Chirag Patel Tag disputed tag was added to gene: CNTN4.
Mendeliome v1.3669 CNTN4 Chirag Patel Phenotypes for gene: CNTN4 were changed from complex neurodevelopmental disorder, MONDO:0100038 to complex neurodevelopmental disorder, MONDO:0100038
Mendeliome v1.3669 CNTN4 Chirag Patel Phenotypes for gene: CNTN4 were changed from complex neurodevelopmental disorder, MONDO:0100038 to complex neurodevelopmental disorder, MONDO:0100038
Mendeliome v1.3669 CNTN4 Chirag Patel Phenotypes for gene: CNTN4 were changed from complex neurodevelopmental disorder, MONDO:0100038 to complex neurodevelopmental disorder, MONDO:0100038
Mendeliome v1.3669 CNTN4 Chirag Patel Phenotypes for gene: CNTN4 were changed from complex neurodevelopmental disorder, MONDO:0100038 to complex neurodevelopmental disorder, MONDO:0100038
Mendeliome v1.3669 CNTN4 Chirag Patel Phenotypes for gene: CNTN4 were changed from complex neurodevelopmental disorder, MONDO:0100038 to complex neurodevelopmental disorder, MONDO:0100038
Mendeliome v1.3669 CNTN4 Chirag Patel Phenotypes for gene: CNTN4 were changed from complex neurodevelopmental disorder, MONDO:0100038 to complex neurodevelopmental disorder, MONDO:0100038
Mendeliome v1.3669 CNTN4 Chirag Patel Phenotypes for gene: CNTN4 were changed from complex neurodevelopmental disorder, MONDO:0100038 to complex neurodevelopmental disorder, MONDO:0100038
Mendeliome v1.3668 CNTN4 Chirag Patel Phenotypes for gene: CNTN4 were changed from to complex neurodevelopmental disorder, MONDO:0100038
Mendeliome v1.3667 CNTN4 Chirag Patel Tag disputed tag was added to gene: CNTN4.
Mendeliome v1.3667 Chirag Patel Added reviews for gene CNTN4 from panel Intellectual disability syndromic and non-syndromic
Autism v0.228 Chirag Patel Added reviews for gene CNTN4 from panel Intellectual disability syndromic and non-syndromic
Intellectual disability syndromic and non-syndromic v1.451 CNTN4 Chirag Patel Phenotypes for gene: CNTN4 were changed from complex neurodevelopmental disorder, MONDO:0100038 to complex neurodevelopmental disorder, MONDO:0100038
Intellectual disability syndromic and non-syndromic v1.451 CNTN4 Chirag Patel Phenotypes for gene: CNTN4 were changed from complex neurodevelopmental disorder, MONDO:0100038 to complex neurodevelopmental disorder, MONDO:0100038
Mendeliome v1.3666 CNTNAP5 Chirag Patel Marked gene: CNTNAP5 as ready
Mendeliome v1.3666 CNTNAP5 Chirag Patel Gene: cntnap5 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v1.451 CNTN4 Chirag Patel Phenotypes for gene: CNTN4 were changed from complex neurodevelopmental disorder, MONDO:0100038 to complex neurodevelopmental disorder, MONDO:0100038
Autism v0.228 CNTNAP2 Chirag Patel Phenotypes for gene: CNTNAP2 were changed from Cortical dysplasia-focal epilepsy syndrome, MIM# 610042 to Cortical dysplasia-focal epilepsy syndrome, MIM# 610042
Autism v0.227 CNTNAP2 Chirag Patel Phenotypes for gene: CNTNAP2 were changed from Cortical dysplasia-focal epilepsy syndrome, MIM# 610042 to Cortical dysplasia-focal epilepsy syndrome, MIM# 610042
Intellectual disability syndromic and non-syndromic v1.451 CNTN4 Chirag Patel Phenotypes for gene: CNTN4 were changed from complex neurodevelopmental disorder, MONDO:0100038 to complex neurodevelopmental disorder, MONDO:0100038
Intellectual disability syndromic and non-syndromic v1.451 CNTN4 Chirag Patel Phenotypes for gene: CNTN4 were changed from Intellectual disability; SCA to complex neurodevelopmental disorder, MONDO:0100038
Autism v0.226 CNTNAP2 Chirag Patel Phenotypes for gene: CNTNAP2 were changed from Cortical dysplasia-focal epilepsy syndrome, MIM# 610042 to Cortical dysplasia-focal epilepsy syndrome, MIM# 610042
Autism v0.227 CNTNAP2 Chirag Patel Phenotypes for gene: CNTNAP2 were changed from Cortical dysplasia-focal epilepsy syndrome, MIM# 610042 to Cortical dysplasia-focal epilepsy syndrome, MIM# 610042
Intellectual disability syndromic and non-syndromic v1.450 CNTN4 Chirag Patel Tag disputed tag was added to gene: CNTN4.
Autism v0.227 CNTNAP2 Chirag Patel Phenotypes for gene: CNTNAP2 were changed from Cortical dysplasia-focal epilepsy syndrome, MIM# 610042 to Cortical dysplasia-focal epilepsy syndrome, MIM# 610042
Intellectual disability syndromic and non-syndromic v1.450 CNTN4 Chirag Patel reviewed gene: CNTN4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: complex neurodevelopmental disorder, MONDO:0100038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.227 CNTNAP2 Chirag Patel Phenotypes for gene: CNTNAP2 were changed from Cortical dysplasia-focal epilepsy syndrome, MIM# 610042 to Cortical dysplasia-focal epilepsy syndrome, MIM# 610042
Autism v0.226 CNTNAP2 Chirag Patel Phenotypes for gene: CNTNAP2 were changed from Cortical dysplasia-focal epilepsy syndrome, MIM# 610042 to Cortical dysplasia-focal epilepsy syndrome, MIM# 610042
Autism v0.226 CNTNAP2 Chirag Patel Phenotypes for gene: CNTNAP2 were changed from to Cortical dysplasia-focal epilepsy syndrome, MIM# 610042
Autism v0.226 CNTNAP2 Chirag Patel Mode of inheritance for gene: CNTNAP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.3666 Chirag Patel Copied gene CNTNAP5 from panel Intellectual disability syndromic and non-syndromic
Mendeliome v1.3666 CNTNAP5 Chirag Patel gene: CNTNAP5 was added
gene: CNTNAP5 was added to Mendeliome. Sources: Expert Review Red,Genetic Health Queensland
disputed tags were added to gene: CNTNAP5.
Mode of inheritance for gene: CNTNAP5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CNTNAP5 were set to 20346443
Phenotypes for gene: CNTNAP5 were set to Autism
Intellectual disability syndromic and non-syndromic v1.450 CNTNAP5 Chirag Patel Tag disputed tag was added to gene: CNTNAP5.
Intellectual disability syndromic and non-syndromic v1.450 CNTNAP5 Chirag Patel reviewed gene: CNTNAP5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Complex neurodevelopmental disorder, MONDO:0100038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.225 Chirag Patel Added reviews for gene CNTNAP2 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.450 TMLHE Chirag Patel Tag disputed tag was added to gene: TMLHE.
Mendeliome v1.3665 TMLHE Chirag Patel Tag disputed tag was added to gene: TMLHE.
Intellectual disability syndromic and non-syndromic v1.450 SLC9A9 Chirag Patel Source Genetic Health Queensland was removed from SLC9A9.
Source ClinGen was added to SLC9A9.
Mode of inheritance for gene SLC9A9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tag disputed tag was added to SLC9A9.
Autism v0.224 TMLHE Chirag Patel Tag disputed tag was added to gene: TMLHE.
Autism v0.224 SLC9A9 Chirag Patel Tag disputed tag was added to gene: SLC9A9.
Mendeliome v1.3665 SLC9A9 Chirag Patel Tag disputed tag was added to gene: SLC9A9.
Intellectual disability syndromic and non-syndromic v1.449 SLC9A9 Chirag Patel reviewed gene: SLC9A9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v1.449 AVPR1A Chirag Patel Mode of inheritance for gene: AVPR1A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v1.449 AVPR1A Chirag Patel Mode of inheritance for gene: AVPR1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v1.449 AVPR1A Chirag Patel Phenotypes for gene: AVPR1A were changed from to autism spectrum disorder MONDO:0005258
Mendeliome v1.3665 SLC6A4 Chirag Patel Phenotypes for gene: SLC6A4 were changed from Autism spectrum disorder MONDO:0005258 to Autism spectrum disorder MONDO:0005258
Mendeliome v1.3665 SLC6A4 Chirag Patel Phenotypes for gene: SLC6A4 were changed from {Obsessive-compulsive disorder}, MIM# 164230; depression; alcohol dependence to Autism spectrum disorder MONDO:0005258
Mendeliome v1.3664 SLC6A4 Chirag Patel Tag disputed tag was added to gene: SLC6A4.
Mendeliome v1.3664 SLC6A4 Chirag Patel commented on gene: SLC6A4: ClinGen DISPUTED - Jan 2021
Mendeliome v1.3664 SLC6A4 Chirag Patel reviewed gene: SLC6A4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Autism spectrum disorder MONDO:0005258; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v1.448 Chirag Patel Added reviews for gene AVPR1A from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.447 COX4I1 Zornitza Stark Marked gene: COX4I1 as ready
Intellectual disability syndromic and non-syndromic v1.447 COX4I1 Zornitza Stark Gene: cox4i1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.447 COX4I1 Zornitza Stark Classified gene: COX4I1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.447 COX4I1 Zornitza Stark Gene: cox4i1 has been classified as Green List (High Evidence).
Regression v0.596 Lucy Spencer Added reviews for gene COX4I1 from panel Mendeliome
Mitochondrial disease v0.1091 Lucy Spencer Added reviews for gene COX4I1 from panel Mendeliome
Microcephaly v1.370 Lucy Spencer Copied gene COX4I1 from panel Mendeliome
Microcephaly v1.370 COX4I1 Lucy Spencer gene: COX4I1 was added
gene: COX4I1 was added to Microcephaly. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: COX4I1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX4I1 were set to 28766551; 22592081; 31290619; 40095452; 41203052
Phenotypes for gene: COX4I1 were set to Mitochondrial complex IV deficiency, nuclear type 16, MIM#619060
Intellectual disability syndromic and non-syndromic v1.446 Lucy Spencer Copied gene COX4I1 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.446 COX4I1 Lucy Spencer gene: COX4I1 was added
gene: COX4I1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: COX4I1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX4I1 were set to 28766551; 22592081; 31290619; 40095452; 41203052
Phenotypes for gene: COX4I1 were set to Mitochondrial complex IV deficiency, nuclear type 16, MIM#619060
Mendeliome v1.3664 COX4I1 Lucy Spencer Publications for gene: COX4I1 were set to 28766551; 22592081; 31290619
Mendeliome v1.3663 COX4I1 Lucy Spencer reviewed gene: COX4I1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28766551, 31290619, 40095452, 41203052; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 16 MIM#619060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v1.69 COQ5 Zornitza Stark Phenotypes for gene: COQ5 were changed from Coenzyme Q10 deficiency, primary 9, MIM#619028; Cerebellar ataxia; encephalopathy; generalized tonic-clonic seizures; intellectual disability to Coenzyme Q10 deficiency, primary, 9 MIM#619028
Ataxia v1.68 COQ5 Zornitza Stark Publications for gene: COQ5 were set to 29044765
Ataxia v1.67 COQ5 Zornitza Stark Classified gene: COQ5 as Green List (high evidence)
Ataxia v1.67 COQ5 Zornitza Stark Gene: coq5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.445 COQ5 Zornitza Stark Phenotypes for gene: COQ5 were changed from Coenzyme Q10 deficiency, primary 9, MIM#619028; Cerebellar ataxia; encephalopathy; generalized tonic-clonic seizures; intellectual disability to Coenzyme Q10 deficiency, primary, 9 MIM#619028
Intellectual disability syndromic and non-syndromic v1.444 COQ5 Zornitza Stark Publications for gene: COQ5 were set to 29044765
Intellectual disability syndromic and non-syndromic v1.443 COQ5 Zornitza Stark Classified gene: COQ5 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.443 COQ5 Zornitza Stark Gene: coq5 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.286 COQ5 Zornitza Stark Marked gene: COQ5 as ready
Genetic Epilepsy v1.286 COQ5 Zornitza Stark Gene: coq5 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1090 COQ5 Zornitza Stark Phenotypes for gene: COQ5 were changed from Coenzyme Q10 deficiency, primary 9, MIM#619028; Cerebellar ataxia; encephalopathy; generalized tonic-clonic seizures; intellectual disability to Coenzyme Q10 deficiency, primary, 9 MIM#619028
Mitochondrial disease v0.1089 COQ5 Zornitza Stark Publications for gene: COQ5 were set to 29044765
Mitochondrial disease v0.1088 COQ5 Zornitza Stark Classified gene: COQ5 as Green List (high evidence)
Mitochondrial disease v0.1088 COQ5 Zornitza Stark Gene: coq5 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.286 Zornitza Stark Copied gene COQ5 from panel Mendeliome
Genetic Epilepsy v1.286 COQ5 Zornitza Stark gene: COQ5 was added
gene: COQ5 was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list,Victorian Clinical Genetics Services
Mode of inheritance for gene: COQ5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ5 were set to 29044765; 37599337; 21937992; 41199775; 36266294
Phenotypes for gene: COQ5 were set to Coenzyme Q10 deficiency, primary 9, MIM#619028
Mitochondrial disease v0.1088 COQ5 Zornitza Stark Classified gene: COQ5 as Green List (high evidence)
Mitochondrial disease v0.1088 COQ5 Zornitza Stark Gene: coq5 has been classified as Green List (High Evidence).
Ataxia v1.66 Zornitza Stark Added reviews for gene COQ5 from panel Mendeliome
Mendeliome v1.3663 COQ5 Zornitza Stark Classified gene: COQ5 as Green List (high evidence)
Mendeliome v1.3663 COQ5 Zornitza Stark Gene: coq5 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1087 Lucy Spencer Added reviews for gene COQ5 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.442 Lucy Spencer Added reviews for gene COQ5 from panel Mendeliome
Ataxia v1.65 Lucy Spencer Added reviews for gene COQ5 from panel Mendeliome
Mendeliome v1.3662 COQ5 Lucy Spencer Phenotypes for gene: COQ5 were changed from Coenzyme Q10 deficiency, primary 9, MIM#619028; Cerebellar ataxia; encephalopathy; generalized tonic-clonic seizures; intellectual disability to Coenzyme Q10 deficiency, primary 9, MIM#619028
Mendeliome v1.3661 COQ5 Lucy Spencer Publications for gene: COQ5 were set to 29044765
Mendeliome v1.3660 COQ5 Lucy Spencer reviewed gene: COQ5: Rating: GREEN; Mode of pathogenicity: None; Publications: 29044765, 37599337, 21937992, 41199775, 36266294; Phenotypes: Coenzyme Q10 deficiency, primary, 9 MIM#619028; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Osteopetrosis v0.79 TYROBP Zornitza Stark Marked gene: TYROBP as ready
Osteopetrosis v0.79 TYROBP Zornitza Stark Gene: tyrobp has been classified as Red List (Low Evidence).
Osteopetrosis v0.79 TYROBP Zornitza Stark Phenotypes for gene: TYROBP were changed from to polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 MONDO:0020749
Osteopetrosis v0.78 TYROBP Zornitza Stark Publications for gene: TYROBP were set to
Osteopetrosis v0.77 TYROBP Zornitza Stark Mode of inheritance for gene: TYROBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Osteopetrosis v0.76 TYROBP Zornitza Stark Classified gene: TYROBP as Red List (low evidence)
Osteopetrosis v0.76 TYROBP Zornitza Stark Gene: tyrobp has been classified as Red List (Low Evidence).
Osteopetrosis v0.75 TNFRSF11A Zornitza Stark Marked gene: TNFRSF11A as ready
Osteopetrosis v0.75 TNFRSF11A Zornitza Stark Gene: tnfrsf11a has been classified as Green List (High Evidence).
Osteopetrosis v0.75 TNFRSF11A Zornitza Stark Phenotypes for gene: TNFRSF11A were changed from to Osteopetrosis, autosomal recessive 7 MIM#612301
Osteopetrosis v0.74 TNFRSF11A Zornitza Stark Publications for gene: TNFRSF11A were set to
Osteopetrosis v0.73 TNFRSF11A Zornitza Stark Mode of inheritance for gene: TNFRSF11A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Osteopetrosis v0.72 TGFB1 Zornitza Stark Marked gene: TGFB1 as ready
Osteopetrosis v0.72 TGFB1 Zornitza Stark Gene: tgfb1 has been classified as Green List (High Evidence).
Osteopetrosis v0.72 TGFB1 Zornitza Stark Phenotypes for gene: TGFB1 were changed from to Camurati-Engelmann disease MONDO:0007542
Osteopetrosis v0.71 TGFB1 Zornitza Stark Publications for gene: TGFB1 were set to
Osteopetrosis v0.70 TGFB1 Zornitza Stark Mode of inheritance for gene: TGFB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Osteopetrosis v0.69 TCIRG1 Zornitza Stark Marked gene: TCIRG1 as ready
Osteopetrosis v0.69 TCIRG1 Zornitza Stark Gene: tcirg1 has been classified as Green List (High Evidence).
Osteopetrosis v0.69 TCIRG1 Zornitza Stark Phenotypes for gene: TCIRG1 were changed from to Osteopetrosis, autosomal recessive 1 MIM#259700
Osteopetrosis v0.68 TCIRG1 Zornitza Stark Publications for gene: TCIRG1 were set to
Osteopetrosis v0.67 TCIRG1 Zornitza Stark Mode of inheritance for gene: TCIRG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Osteopetrosis v0.66 SOST Zornitza Stark Marked gene: SOST as ready
Osteopetrosis v0.66 SOST Zornitza Stark Gene: sost has been classified as Green List (High Evidence).
Osteopetrosis v0.66 SOST Zornitza Stark Phenotypes for gene: SOST were changed from to sclerosteosis 1 MONDO:0010016
Osteopetrosis v0.65 SOST Zornitza Stark Publications for gene: SOST were set to
Osteopetrosis v0.64 SOST Zornitza Stark Mode of inheritance for gene: SOST was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Osteopetrosis v0.63 SNX10 Zornitza Stark Marked gene: SNX10 as ready
Osteopetrosis v0.63 SNX10 Zornitza Stark Gene: snx10 has been classified as Green List (High Evidence).
Osteopetrosis v0.63 SNX10 Zornitza Stark Phenotypes for gene: SNX10 were changed from to Osteopetrosis, autosomal recessive 8 MIM#615085
Osteopetrosis v0.62 SNX10 Zornitza Stark Publications for gene: SNX10 were set to
Osteopetrosis v0.61 SNX10 Zornitza Stark Mode of inheritance for gene: SNX10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Osteopetrosis v0.60 PTH1R Zornitza Stark Marked gene: PTH1R as ready
Osteopetrosis v0.60 PTH1R Zornitza Stark Gene: pth1r has been classified as Green List (High Evidence).
Osteopetrosis v0.60 PTH1R Zornitza Stark Phenotypes for gene: PTH1R were changed from to Chondrodysplasia, Blomstrand type, MIM# 215045
Osteopetrosis v0.59 PTH1R Zornitza Stark Publications for gene: PTH1R were set to
Osteopetrosis v0.58 PTH1R Zornitza Stark Mode of inheritance for gene: PTH1R was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Osteopetrosis v0.57 PTH1R Zornitza Stark reviewed gene: PTH1R: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chondrodysplasia, Blomstrand type, MIM# 215045; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Osteopetrosis v0.57 LRP5 Zornitza Stark Marked gene: LRP5 as ready
Osteopetrosis v0.57 LRP5 Zornitza Stark Gene: lrp5 has been classified as Green List (High Evidence).
Osteopetrosis v0.57 LRP5 Zornitza Stark Phenotypes for gene: LRP5 were changed from autosomal dominant osteopetrosis 1 MONDO:0011877 to autosomal dominant osteopetrosis 1 MONDO:0011877
Osteopetrosis v0.57 LRP5 Zornitza Stark Phenotypes for gene: LRP5 were changed from to autosomal dominant osteopetrosis 1 MONDO:0011877
Osteopetrosis v0.56 LRP5 Zornitza Stark Publications for gene: LRP5 were set to
Osteopetrosis v0.55 LRP5 Zornitza Stark Mode of inheritance for gene: LRP5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Osteopetrosis v0.54 IKBKG Zornitza Stark Marked gene: IKBKG as ready
Osteopetrosis v0.54 IKBKG Zornitza Stark Gene: ikbkg has been classified as Green List (High Evidence).
Osteopetrosis v0.54 IKBKG Zornitza Stark Phenotypes for gene: IKBKG were changed from to IKBKG-related immunodeficiency with or without ectodermal dysplasia MONDO:0100162; incontinentia pigmenti MONDO:0010631
Osteopetrosis v0.53 IKBKG Zornitza Stark Publications for gene: IKBKG were set to
Osteopetrosis v0.52 IKBKG Zornitza Stark Mode of inheritance for gene: IKBKG was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Osteopetrosis v0.51 IKBKG Zornitza Stark Tag SV/CNV tag was added to gene: IKBKG.
Osteopetrosis v0.51 FERMT3 Zornitza Stark Marked gene: FERMT3 as ready
Osteopetrosis v0.51 FERMT3 Zornitza Stark Gene: fermt3 has been classified as Green List (High Evidence).
Osteopetrosis v0.51 FERMT3 Zornitza Stark Phenotypes for gene: FERMT3 were changed from to leukocyte adhesion deficiency 3 MONDO:0013016
Osteopetrosis v0.50 FERMT3 Zornitza Stark Publications for gene: FERMT3 were set to
Osteopetrosis v0.49 FERMT3 Zornitza Stark Mode of inheritance for gene: FERMT3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Osteopetrosis v0.48 CTSK Zornitza Stark Marked gene: CTSK as ready
Osteopetrosis v0.48 CTSK Zornitza Stark Gene: ctsk has been classified as Green List (High Evidence).
Osteopetrosis v0.48 CTSK Zornitza Stark Phenotypes for gene: CTSK were changed from to pycnodysostosis MONDO:0009940
Osteopetrosis v0.47 CTSK Zornitza Stark Publications for gene: CTSK were set to
Osteopetrosis v0.46 CTSK Zornitza Stark Mode of inheritance for gene: CTSK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Osteopetrosis v0.45 ANKH Zornitza Stark Marked gene: ANKH as ready
Osteopetrosis v0.45 ANKH Zornitza Stark Gene: ankh has been classified as Green List (High Evidence).
Osteopetrosis v0.45 ANKH Zornitza Stark Phenotypes for gene: ANKH were changed from to craniometaphyseal dysplasia MONDO:0015465
Osteopetrosis v0.44 ANKH Zornitza Stark Publications for gene: ANKH were set to
Osteopetrosis v0.43 ANKH Zornitza Stark Mode of inheritance for gene: ANKH was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.359 AMER1 Zornitza Stark Marked gene: AMER1 as ready
Skeletal dysplasia v0.359 AMER1 Zornitza Stark Gene: amer1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.359 AMER1 Zornitza Stark Phenotypes for gene: AMER1 were changed from Osteopathia striata with cranial sclerosis 300373; Osteopathia striata with cranial sclerosis 300373 to Osteopathia striata with cranial sclerosis, MIM# 300373
Skeletal dysplasia v0.358 AMER1 Zornitza Stark Publications for gene: AMER1 were set to
Pierre Robin Sequence v0.57 AMER1 Zornitza Stark Marked gene: AMER1 as ready
Pierre Robin Sequence v0.57 AMER1 Zornitza Stark Gene: amer1 has been classified as Green List (High Evidence).
Pierre Robin Sequence v0.57 AMER1 Zornitza Stark Phenotypes for gene: AMER1 were changed from to Osteopathia striata with cranial sclerosis, MIM# 300373
Pierre Robin Sequence v0.56 AMER1 Zornitza Stark Publications for gene: AMER1 were set to
Pierre Robin Sequence v0.55 AMER1 Zornitza Stark Mode of inheritance for gene: AMER1 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Osteopetrosis v0.42 AMER1 Zornitza Stark Marked gene: AMER1 as ready
Osteopetrosis v0.42 AMER1 Zornitza Stark Gene: amer1 has been classified as Green List (High Evidence).
Osteopetrosis v0.42 AMER1 Zornitza Stark Phenotypes for gene: AMER1 were changed from to Osteopathia striata with cranial sclerosis, MIM# 300373; MONDO:0010310
Osteopetrosis v0.41 AMER1 Zornitza Stark Publications for gene: AMER1 were set to
Osteopetrosis v0.40 AMER1 Zornitza Stark Mode of inheritance for gene: AMER1 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Clefting disorders v0.289 AMER1 Zornitza Stark Marked gene: AMER1 as ready
Clefting disorders v0.289 AMER1 Zornitza Stark Gene: amer1 has been classified as Green List (High Evidence).
Clefting disorders v0.289 AMER1 Zornitza Stark Phenotypes for gene: AMER1 were changed from OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS; OSCS; Cleft palate to Osteopathia striata with cranial sclerosis, MIM# 300373
Osteopetrosis v0.39 Zornitza Stark Added reviews for gene AMER1 from panel Mendeliome
Clefting disorders v0.288 AMER1 Zornitza Stark Publications for gene: AMER1 were set to
Pierre Robin Sequence v0.54 Zornitza Stark Added reviews for gene AMER1 from panel Mendeliome
Clefting disorders v0.287 Zornitza Stark Added reviews for gene AMER1 from panel Mendeliome
Clefting disorders v0.286 ANKRD11 Zornitza Stark Marked gene: ANKRD11 as ready
Clefting disorders v0.286 ANKRD11 Zornitza Stark Gene: ankrd11 has been classified as Green List (High Evidence).
Clefting disorders v0.286 ANKRD11 Zornitza Stark Phenotypes for gene: ANKRD11 were changed from Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome; Orofacial Clefting with skeletal features; KBG syndrome,148050 (orofacial clefting, intellectual disability, dental anomalies, dysmorphism) to KBG syndrome, MIM# 148050
Clefting disorders v0.285 ANKRD11 Zornitza Stark Publications for gene: ANKRD11 were set to 25838844; 2705097; 21782149; 27900361
Clefting disorders v0.284 ANKRD11 Zornitza Stark reviewed gene: ANKRD11: Rating: GREEN; Mode of pathogenicity: None; Publications: 35861666; Phenotypes: KBG syndrome, MIM# 148050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Clefting disorders v0.284 ACTG1 Zornitza Stark Marked gene: ACTG1 as ready
Clefting disorders v0.284 ACTG1 Zornitza Stark Gene: actg1 has been classified as Green List (High Evidence).
Clefting disorders v0.284 ACTG1 Zornitza Stark Phenotypes for gene: ACTG1 were changed from BARAITSER-WINTER SYNDROME 2; BRWS2 to Baraitser-Winter syndrome 2, MIM# 614583
Clefting disorders v0.283 ACTG1 Zornitza Stark reviewed gene: ACTG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Baraitser-Winter syndrome 2, MIM# 614583; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Clefting disorders v0.283 ACTB Zornitza Stark Marked gene: ACTB as ready
Clefting disorders v0.283 ACTB Zornitza Stark Gene: actb has been classified as Green List (High Evidence).
Clefting disorders v0.283 ACTB Zornitza Stark Phenotypes for gene: ACTB were changed from BRWS1; BARAITSER-WINTER SYNDROME 1 to Baraitser-Winter syndrome 1, MIM# 243310
Clefting disorders v0.282 ACTB Zornitza Stark reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Baraitser-Winter syndrome 1, MIM# 243310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.357 AGA Zornitza Stark Marked gene: AGA as ready
Skeletal dysplasia v0.357 AGA Zornitza Stark Gene: aga has been classified as Green List (High Evidence).
Skeletal dysplasia v0.357 AGA Zornitza Stark Phenotypes for gene: AGA were changed from Aspartylglucosaminuria 208400 (Patients may be tall for their age, but lack of a growth spurt in puberty typically causes adults to be short) to Aspartylglucosaminuria, MIM# 208400; MONDO:0008830
Skeletal dysplasia v0.356 AGA Zornitza Stark Publications for gene: AGA were set to
Skeletal dysplasia v0.355 AGA Zornitza Stark Deleted their comment
Skeletal dysplasia v0.355 ADAMTSL2 Zornitza Stark Marked gene: ADAMTSL2 as ready
Skeletal dysplasia v0.355 ADAMTSL2 Zornitza Stark Gene: adamtsl2 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.355 ADAMTSL2 Zornitza Stark Phenotypes for gene: ADAMTSL2 were changed from Geleophysic dysplasia 1 MIM#231050 to Geleophysic dysplasia 1 MIM#231050
Skeletal dysplasia v0.354 ADAMTSL2 Zornitza Stark Phenotypes for gene: ADAMTSL2 were changed from Geleophysic dysplasia 1 231050 to Geleophysic dysplasia 1 MIM#231050
Skeletal dysplasia v0.353 ADAMTSL2 Zornitza Stark Publications for gene: ADAMTSL2 were set to
Skeletal dysplasia v0.352 ADAMTS17 Zornitza Stark Marked gene: ADAMTS17 as ready
Skeletal dysplasia v0.352 ADAMTS17 Zornitza Stark Gene: adamts17 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.352 ADAMTS17 Zornitza Stark Phenotypes for gene: ADAMTS17 were changed from Weill-Marchesani syndrome type 4 to Weill-Marchesani syndrome type 4 MIM# 613195
Skeletal dysplasia v0.351 ADAMTS10 Zornitza Stark Marked gene: ADAMTS10 as ready
Skeletal dysplasia v0.351 ADAMTS10 Zornitza Stark Gene: adamts10 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.351 ABCC9 Zornitza Stark commented on gene: ABCC9: Well established gene-disease association.
Skeletal dysplasia v0.351 ABCC9 Zornitza Stark Deleted their comment
Skeletal dysplasia v0.351 ABCC9 Zornitza Stark Marked gene: ABCC9 as ready
Skeletal dysplasia v0.351 ABCC9 Zornitza Stark Gene: abcc9 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.351 ABCC9 Zornitza Stark Publications for gene: ABCC9 were set to
Skeletal dysplasia v0.350 ACP5 Zornitza Stark Marked gene: ACP5 as ready
Skeletal dysplasia v0.350 ACP5 Zornitza Stark Gene: acp5 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.350 ACP5 Zornitza Stark Phenotypes for gene: ACP5 were changed from Spondyloenchondrodysplasia with immune dysregulation 607944 to Spondyloenchondrodysplasia with immune dysregulation MIM#607944
Skeletal dysplasia v0.349 ACP5 Zornitza Stark Publications for gene: ACP5 were set to
Skeletal dysplasia v0.348 ACAN Zornitza Stark Marked gene: ACAN as ready
Skeletal dysplasia v0.348 ACAN Zornitza Stark Gene: acan has been classified as Green List (High Evidence).
Skeletal dysplasia v0.348 ACAN Zornitza Stark Publications for gene: ACAN were set to 24762113
Mendeliome v1.3660 LAMB1 Zornitza Stark Phenotypes for gene: LAMB1 were changed from Lissencephaly 5, MIM# 615191; Cystic leukoencephalopathy; Adult-onset leukoencephalopathy to Lissencephaly 5, MIM# 615191; Leukoencephalopathy, adult-onset, MIM# 621424
Mendeliome v1.3659 LAMB1 Zornitza Stark edited their review of gene: LAMB1: Changed phenotypes: Lissencephaly 5, MIM# 615191, Leukoencephalopathy, adult-onset, MIM# 621424
Leukodystrophy - adult onset v0.153 LAMB1 Zornitza Stark Phenotypes for gene: LAMB1 were changed from Leukodystrophy, MONDO:0019046, LAMB1-related; Retinal Vascular Abnormality; mild intellectual disability; white matter lesions; lower limb spasticity to Leukoencephalopathy, adult-onset, MIM# 621424
Common deletion and duplication syndromes v0.144 ISCA-46743-Gain Sarah Milton Region: ISCA-46743-Gain was added
Region: ISCA-46743-Gain was added to Common deletion and duplication syndromes. Sources: ClinGen
Mode of inheritance for Region: ISCA-46743-Gain was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for Region: ISCA-46743-Gain were set to Xq25 duplication syndrome, MIM#300979; Xq25 deletion syndrome
Review for Region: ISCA-46743-Gain was set to GREEN
Added comment: Established recurrent CNV associated with short stature, delayed development ID, carrier females may be affected.
Sources: ClinGen
Common deletion and duplication syndromes v0.143 ISCA-46302-Gain Sarah Milton Region: ISCA-46302-Gain was added
Region: ISCA-46302-Gain was added to Common deletion and duplication syndromes. Sources: ClinGen
Mode of inheritance for Region: ISCA-46302-Gain was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for Region: ISCA-46302-Gain were set to 46,XY sex reversal 2, MONDO:0010226
Review for Region: ISCA-46302-Gain was set to GREEN
Added comment: Established triplosensitive region with XY individuals affected and XX carriers unaffected. Presents with male to female sex reversal.
Sources: ClinGen
Common deletion and duplication syndromes v0.142 ISCA-46300-Loss Sarah Milton Region: ISCA-46300-Loss was added
Region: ISCA-46300-Loss was added to Common deletion and duplication syndromes. Sources: ClinGen
Mode of inheritance for Region: ISCA-46300-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-46300-Loss were set to Chromosome 15q24 deletion syndrome, MONDO:0013256
Review for Region: ISCA-46300-Loss was set to GREEN
Added comment: Established recurrent CNV, distal breakpoints, defined in clingen as HI3
Sources: ClinGen
Common deletion and duplication syndromes v0.141 Sarah Milton removed region:ISCA-46296 from the panel
Common deletion and duplication syndromes v0.140 ISCA-46296 Sarah Milton Region: ISCA-46296 was added
Region: ISCA-46296 was added to Common deletion and duplication syndromes. Sources: ClinGen
Mode of inheritance for Region: ISCA-46296 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-46296 were set to Chromosome 15q24 deletion syndrome, MONDO:0013256
Review for Region: ISCA-46296 was set to GREEN
Added comment: Well described recurrent CNV
Sources: ClinGen
Common deletion and duplication syndromes v0.139 ISCA-37498-Loss Sarah Milton Region: ISCA-37498-Loss was added
Region: ISCA-37498-Loss was added to Common deletion and duplication syndromes. Sources: ClinGen
Mode of inheritance for Region: ISCA-37498-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37498-Loss were set to 11q13.2q13.4 deletion syndrome
Review for Region: ISCA-37498-Loss was set to GREEN
Added comment: Well described recurrent CNV by Clingen with associated ID and dysmorphism. Overlaps 2 HI3 genes - KMT5B and SHANK2
Sources: ClinGen
Common deletion and duplication syndromes v0.138 ISCA-37448-Loss Sarah Milton Region: ISCA-37448-Loss was added
Region: ISCA-37448-Loss was added to Common deletion and duplication syndromes. Sources: ClinGen
Mode of inheritance for Region: ISCA-37448-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37448-Loss were set to Chromosome 15q11.2 deletion syndrome, MIM#615656
Penetrance for Region: ISCA-37448-Loss were set to Incomplete
Review for Region: ISCA-37448-Loss was set to GREEN
Added comment: Established recurrent CNV with neuropsychiatric and neurodevelopmental phenotypes. Known to have significantly reduced penetrance.
Sources: ClinGen
Congenital ophthalmoplegia v1.12 TUBA1A Lucy Spencer Phenotypes for gene: TUBA1A were changed from Congenital fibrosis of the extraocular muscles, AD to Congenital fibrosis of the extraocular muscles, MONDO:0007614, TUBA1A-related
Congenital ophthalmoplegia v1.11 TUBA1A Lucy Spencer reviewed gene: TUBA1A: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital fibrosis of the extraocular muscles, MONDO:0007614, TUBA1A-related; Mode of inheritance: None
Congenital ophthalmoplegia v1.11 TUBA1A Lucy Spencer Publications for gene: TUBA1A were set to 30677308
Congenital Heart Defect v0.484 Sangavi Sivagnanasundram Copied gene FGD5 from panel Mendeliome
Congenital Heart Defect v0.484 FGD5 Sangavi Sivagnanasundram gene: FGD5 was added
gene: FGD5 was added to Congenital Heart Defect. Sources: Literature
Mode of inheritance for gene: FGD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FGD5 were set to 32037394; 30232381
Phenotypes for gene: FGD5 were set to tetralogy of fallot MONDO:0008542
Mendeliome v1.3659 FGD5 Sangavi Sivagnanasundram gene: FGD5 was added
gene: FGD5 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FGD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FGD5 were set to 32037394; 30232381
Phenotypes for gene: FGD5 were set to tetralogy of fallot MONDO:0008542
Review for gene: FGD5 was set to RED
Added comment: Appears to be two separate families reported with different nonsense variants in FGD5 associated with TOF. There is some author and recruitment overlap however there is no compelling evidence to state the two probands are related.

32037394 - one family reported with a nonsense variant in an individual with pulmonary stenosis and dysplastic valve, ASD - Glu322* (variant is absent in gnomAD v4.1)
30232381 (missed this publication) - individual reported with TOF, ASD, AF, hypertension, aortic dilation Arg1225* - present in gnomADv4.1 singleton in EAS population.

There is no clear evidence that LoF is the mechanism of disease. No pathogenic variants have been reported in ClinVar at this stage thus the gene should remain as Red till further evidence is provided.
Sources: Literature
Genetic Epilepsy v1.285 Zornitza Stark Copied gene HECTD4 from panel Intellectual disability syndromic and non-syndromic
Genetic Epilepsy v1.285 HECTD4 Zornitza Stark gene: HECTD4 was added
gene: HECTD4 was added to Genetic Epilepsy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: HECTD4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HECTD4 were set to PMID: 36401616
Phenotypes for gene: HECTD4 were set to Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, MIM# 620250
Dilated Cardiomyopathy v1.53 KLF13 Zornitza Stark Marked gene: KLF13 as ready
Dilated Cardiomyopathy v1.53 KLF13 Zornitza Stark Gene: klf13 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v1.441 CUL1 Zornitza Stark Marked gene: CUL1 as ready
Intellectual disability syndromic and non-syndromic v1.441 CUL1 Zornitza Stark Gene: cul1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.284 CUL1 Zornitza Stark Marked gene: CUL1 as ready
Genetic Epilepsy v1.284 CUL1 Zornitza Stark Gene: cul1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.441 Zornitza Stark Copied gene CUL1 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.441 CUL1 Zornitza Stark gene: CUL1 was added
gene: CUL1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Literature
Mode of inheritance for gene: CUL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CUL1 were set to PMID: 41189326
Phenotypes for gene: CUL1 were set to Neurodevelopmental disorder, MONDO:0700092, CUL1-related
Genetic Epilepsy v1.284 CUL1 Zornitza Stark Classified gene: CUL1 as Green List (high evidence)
Genetic Epilepsy v1.284 CUL1 Zornitza Stark Gene: cul1 has been classified as Green List (High Evidence).
Mendeliome v1.3658 CUL1 Zornitza Stark Marked gene: CUL1 as ready
Mendeliome v1.3658 CUL1 Zornitza Stark Gene: cul1 has been classified as Green List (High Evidence).
Mendeliome v1.3658 CUL1 Zornitza Stark Classified gene: CUL1 as Green List (high evidence)
Mendeliome v1.3658 CUL1 Zornitza Stark Gene: cul1 has been classified as Green List (High Evidence).
Microcephaly v1.369 CUL1 Zornitza Stark Marked gene: CUL1 as ready
Microcephaly v1.369 CUL1 Zornitza Stark Gene: cul1 has been classified as Green List (High Evidence).
Microcephaly v1.369 CUL1 Zornitza Stark Classified gene: CUL1 as Green List (high evidence)
Microcephaly v1.369 CUL1 Zornitza Stark Gene: cul1 has been classified as Green List (High Evidence).
Mendeliome v1.3657 PDE11A Zornitza Stark Tag disputed was removed from gene: PDE11A.
Mendeliome v1.3657 KLF13 Krithika Murali Marked gene: KLF13 as ready
Mendeliome v1.3657 KLF13 Krithika Murali Gene: klf13 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3657 KLF13 Krithika Murali Classified gene: KLF13 as Amber List (moderate evidence)
Mendeliome v1.3657 KLF13 Krithika Murali Gene: klf13 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3656 KLF13 Krithika Murali gene: KLF13 was added
gene: KLF13 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KLF13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KLF13 were set to Congenital heart disease MONDO:0005453 - KLF13-related; Dilated cardiomyopathy - MONDO:0005021, KLF13-related
Review for gene: KLF13 was set to AMBER
Added comment: Curated by ClinGen as Moderate for association with congenital heart disease (12/2/2024)

PMID: 33215447 Wang et al 2020 - novel heterozygous variation, NM_015995.3: c.370G>T; p.(Glu124*), co-segregating with congenital heart disease in a 3-generation Chinese family. Supportive functional evidence.

PMID: 35369534 Abhinav et al 2022 - NM_015995.3: c.430G>T; p.(Glu144*) co-segregated with congenital heart disease in a Han Chinese family. Supportive functional evidence.

PMID: 32293321 Li et al 2020 - Two heterozygous missense variants in two unrelated patients with congenital heart disease. However, they have much higher gnomAD frequencies - c.487C > T (P163S) (11 hets gnomAD v4) and c.467G > A (S156N)(22 hets gnomAD v4). No segregation information and the functional evidence was not convincing. This paper was included as genetic evidence in the ClinGen curation.

Monoallelic variants have also been reported in association with adult-onset DCM.

PMID 36346048 Guo et al 2022 – Identified heterozygous KLF13 gene variants co-segregating with adult-onset DCM in 3 unrelated families - c.430G>T (p.E144X); c.580G>T (p.E194X) and c.595T>C (p.C199R). Functional studies support disrupted synergistic transactivation between mutant KLF13 and target genes ACTC1, MYH7 and GATA4. Monoallelic variants in KLF13 have also been associated with congenital heart disease. Of note, 2 individuals from Family 1 and 1 individual from Family 2 also had an atrial septal defect.

PMID 41201692 Tang et al 2025 – report a novel heterozygous truncating KLF13 mutation, i.e., NM_015995.3:c.534 C>G;p.(Tyr178) in two unrelated patients with adult onset DCM (42-year-old male patient and a 51-year old female case 51 years old). Variant was absent in healthy controls. No segregation evidence. Supportive functional evidence.

More evidence including segregation information, genotype-phenotype correlation between DCM and/or congenital heart disease and ascertainment from diverse ancestries required.
Sources: Literature
Dilated Cardiomyopathy v1.53 KLF13 Krithika Murali Classified gene: KLF13 as Amber List (moderate evidence)
Dilated Cardiomyopathy v1.53 KLF13 Krithika Murali Gene: klf13 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v1.52 KLF13 Krithika Murali changed review comment from: PMID 36346048 Guo et al 2022 – Identified heterozygous KLF13 gene variants co-segregating with adult-onset DCM in 3 unrelated families - c.430G>T (p.E144X); c.580G>T (p.E194X) and c.595T>C (p.C199R). Functional studies support disrupted synergistic transactivation between mutant KLF13 and target genes ACTC1, MYH7 and GATA4. Monoallelic variants in KLF13 have also been associated with congenital heart disease. Of note, 2 individuals from Family 1 and 1 individual from Family 2 also had an atrial septal defect.

PMID 41201692 Tang et al 2025 – report a novel heterozygous truncating KLF13 mutation, i.e., NM_015995.3:c.534 C>G;p.(Tyr178) in two unrelated patients with adult onset DCM (42-year-old male patient and a 51-year old female case 51 years old). Variant was absent in healthy controls. No segregation evidence. Supportive functional evidence.

More genetic evidence including segregation information and ascertainment from diverse ancestries required.
Sources: Literature; to: PMID 36346048 Guo et al 2022 – Identified heterozygous KLF13 gene variants co-segregating with adult-onset DCM in 3 unrelated families - c.430G>T (p.E144X); c.580G>T (p.E194X) and c.595T>C (p.C199R). Functional studies support disrupted synergistic transactivation between mutant KLF13 and target genes ACTC1, MYH7 and GATA4. Monoallelic variants in KLF13 have also been associated with congenital heart disease. Of note, 2 individuals from Family 1 and 1 individual from Family 2 also had an atrial septal defect.

PMID 41201692 Tang et al 2025 – report a novel heterozygous truncating KLF13 mutation, i.e., NM_015995.3:c.534 C>G;p.(Tyr178) in two unrelated patients with adult onset DCM (42-year-old male patient and a 51-year old female case 51 years old). Variant was absent in healthy controls. No segregation evidence. Supportive functional evidence.

More evidence including segregation information, genotype-phenotype correlation DCM and/or congenital heart disease and ascertainment from diverse ancestries required.

Sources: Literature
Dilated Cardiomyopathy v1.52 KLF13 Krithika Murali gene: KLF13 was added
gene: KLF13 was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: KLF13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KLF13 were set to PMID: 36346048; 41201692
Phenotypes for gene: KLF13 were set to Dilated cardiomyopathy - MONDO:0005021, KLF13-related
Review for gene: KLF13 was set to AMBER
Added comment: PMID 36346048 Guo et al 2022 – Identified heterozygous KLF13 gene variants co-segregating with adult-onset DCM in 3 unrelated families - c.430G>T (p.E144X); c.580G>T (p.E194X) and c.595T>C (p.C199R). Functional studies support disrupted synergistic transactivation between mutant KLF13 and target genes ACTC1, MYH7 and GATA4. Monoallelic variants in KLF13 have also been associated with congenital heart disease. Of note, 2 individuals from Family 1 and 1 individual from Family 2 also had an atrial septal defect.

PMID 41201692 Tang et al 2025 – report a novel heterozygous truncating KLF13 mutation, i.e., NM_015995.3:c.534 C>G;p.(Tyr178) in two unrelated patients with adult onset DCM (42-year-old male patient and a 51-year old female case 51 years old). Variant was absent in healthy controls. No segregation evidence. Supportive functional evidence.

More genetic evidence including segregation information and ascertainment from diverse ancestries required.
Sources: Literature
Microcephaly v1.368 Sarah Milton Copied gene CUL1 from panel Mendeliome
Microcephaly v1.368 CUL1 Sarah Milton gene: CUL1 was added
gene: CUL1 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: CUL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CUL1 were set to PMID: 41189326
Phenotypes for gene: CUL1 were set to Neurodevelopmental disorder, MONDO:0700092, CUL1-related
Genetic Epilepsy v1.283 Sarah Milton Copied gene CUL1 from panel Mendeliome
Genetic Epilepsy v1.283 CUL1 Sarah Milton gene: CUL1 was added
gene: CUL1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: CUL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CUL1 were set to PMID: 41189326
Phenotypes for gene: CUL1 were set to Neurodevelopmental disorder, MONDO:0700092, CUL1-related
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.146 FOXC1 Zornitza Stark Marked gene: FOXC1 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.146 FOXC1 Zornitza Stark Gene: foxc1 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.146 FOXC1 Zornitza Stark Phenotypes for gene: FOXC1 were changed from Congenital anomalies of the kidney and urinary tract (CAKUT) to Congenital anomalies of the kidney and urinary tract (CAKUT),MONDO:0019719, FOXC1-related
Mendeliome v1.3655 CUL1 Sarah Milton gene: CUL1 was added
gene: CUL1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CUL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CUL1 were set to PMID: 41189326
Phenotypes for gene: CUL1 were set to Neurodevelopmental disorder, MONDO:0700092, CUL1-related
Review for gene: CUL1 was set to GREEN
Added comment: CUL1 encodes Cullin 1 and is part of the SCF ubiquitin ligase complex which is involved in protein degradation and cell cycle progression.

Other Cullin proteins have previously been implicated in neurodevelopmental disorders e.g. CUL3

PMID: 41189326 describes 4 probands with microcephaly (postnatal in 3 out of 4), severe ID, seizures (2/4) and variable dysmorphic features. Variant types include nonsense, missense and splice with proposed LOF mechanism.
One individual inherited the variant from an affected mother with a slightly milder phenotype.
All variants were very rare (1 het) or absent from gnomAD v4.

CUL1 is under LOF constraint with very few NMD predicted variants in the population.

The paper described supportive zebrafish studies showing knockout models had reduced forebrain proportion and abnormal growth.
Sources: Literature
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.145 FOXC1 Zornitza Stark Publications for gene: FOXC1 were set to PMID: 32475988
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.144 FOXC1 Zornitza Stark Classified gene: FOXC1 as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.144 FOXC1 Zornitza Stark Gene: foxc1 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.143 ROBO2 Zornitza Stark Marked gene: ROBO2 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.143 ROBO2 Zornitza Stark Gene: robo2 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.143 ROBO2 Zornitza Stark Phenotypes for gene: ROBO2 were changed from to Vesicoureteral reflux 2 - MIM#610878; CAKUT
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.142 ROBO2 Zornitza Stark Publications for gene: ROBO2 were set to 18235093; 19350278; 24429398; 17357069; 26026792; 29194579; 34059960
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.142 ROBO2 Zornitza Stark Publications for gene: ROBO2 were set to
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.141 ROBO2 Zornitza Stark Mode of inheritance for gene: ROBO2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.140 RET Zornitza Stark Marked gene: RET as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.140 RET Zornitza Stark Gene: ret has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.140 RET Zornitza Stark Phenotypes for gene: RET were changed from to CAKUT MONDO:0019719, RET-related
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.139 RET Zornitza Stark Publications for gene: RET were set to
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.138 RET Zornitza Stark Mode of inheritance for gene: RET was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.137 RET Zornitza Stark reviewed gene: RET: Rating: GREEN; Mode of pathogenicity: None; Publications: 22729463; Phenotypes: CAKUT MONDO:0019719, RET-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.137 PAX2 Zornitza Stark Marked gene: PAX2 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.137 PAX2 Zornitza Stark Gene: pax2 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.137 PAX2 Zornitza Stark Phenotypes for gene: PAX2 were changed from to Papillorenal syndrome, MIM# 120330; Renal coloboma syndrome, MONDO:0007352
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.136 PAX2 Zornitza Stark Publications for gene: PAX2 were set to
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.135 PAX2 Zornitza Stark Mode of inheritance for gene: PAX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.134 LRIG2 Zornitza Stark Marked gene: LRIG2 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.134 LRIG2 Zornitza Stark Gene: lrig2 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.134 LRIG2 Zornitza Stark Phenotypes for gene: LRIG2 were changed from to Urofacial syndrome 2, MIM# 615112
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.133 LRIG2 Zornitza Stark Publications for gene: LRIG2 were set to
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.132 LRIG2 Zornitza Stark Mode of inheritance for gene: LRIG2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.131 HNF1B Zornitza Stark Marked gene: HNF1B as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.131 HNF1B Zornitza Stark Gene: hnf1b has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.131 HNF1B Zornitza Stark Phenotypes for gene: HNF1B were changed from to Renal cysts and diabetes syndrome, MIM# 137920
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.130 HNF1B Zornitza Stark Mode of inheritance for gene: HNF1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.396 B3GLCT Zornitza Stark Marked gene: B3GLCT as ready
Cataract v0.396 B3GLCT Zornitza Stark Gene: b3glct has been classified as Green List (High Evidence).
Cataract v0.396 B3GLCT Zornitza Stark Phenotypes for gene: B3GLCT were changed from to Peters-plus syndrome, MIM# 261540
Cataract v0.395 B3GLCT Zornitza Stark Publications for gene: B3GLCT were set to
Cataract v0.394 B3GLCT Zornitza Stark Mode of inheritance for gene: B3GLCT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.393 DHCR7 Zornitza Stark Marked gene: DHCR7 as ready
Cataract v0.393 DHCR7 Zornitza Stark Gene: dhcr7 has been classified as Amber List (Moderate Evidence).
Cataract v0.393 DHCR7 Zornitza Stark Phenotypes for gene: DHCR7 were changed from to Smith-Lemli-Opitz syndrome, MIM#270400
Cataract v0.392 DHCR7 Zornitza Stark Publications for gene: DHCR7 were set to
Cataract v0.391 DHCR7 Zornitza Stark Mode of inheritance for gene: DHCR7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.390 DHCR7 Zornitza Stark Classified gene: DHCR7 as Amber List (moderate evidence)
Cataract v0.390 DHCR7 Zornitza Stark Gene: dhcr7 has been classified as Amber List (Moderate Evidence).
Cataract v0.389 DHCR7 Zornitza Stark reviewed gene: DHCR7: Rating: AMBER; Mode of pathogenicity: None; Publications: 18076100, 9880216; Phenotypes: Smith-Lemli-Opitz syndrome, MIM#270400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.389 Zornitza Stark Added reviews for gene CYP27A1 from panel Mendeliome
Cataract v0.388 Zornitza Stark Added reviews for gene B3GLCT from panel Eye Anterior Segment Abnormalities
Cataract v0.387 AGPS Zornitza Stark Marked gene: AGPS as ready
Cataract v0.387 AGPS Zornitza Stark Gene: agps has been classified as Green List (High Evidence).
Cataract v0.387 AGPS Zornitza Stark Phenotypes for gene: AGPS were changed from to Rhizomelic chondrodysplasia punctata, type 3, MIM# 600121
Cataract v0.386 AGPS Zornitza Stark Publications for gene: AGPS were set to
Cataract v0.385 AGPS Zornitza Stark Mode of inheritance for gene: AGPS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Heart Defect v0.483 KLF13 Krithika Murali Marked gene: KLF13 as ready
Congenital Heart Defect v0.483 KLF13 Krithika Murali Gene: klf13 has been classified as Amber List (Moderate Evidence).
Congenital Heart Defect v0.483 KLF13 Krithika Murali Classified gene: KLF13 as Amber List (moderate evidence)
Congenital Heart Defect v0.483 KLF13 Krithika Murali Gene: klf13 has been classified as Amber List (Moderate Evidence).
Cataract v0.384 AGPS Zornitza Stark changed review comment from: well established gene-disease association.; to: Well established gene-disease association. Cataracts reported.
Cataract v0.384 AGPS Zornitza Stark edited their review of gene: AGPS: Changed publications: 9553082, 8611652, 21990100, 35986576
Congenital Heart Defect v0.482 KLF13 Krithika Murali changed review comment from: Curated by ClinGen as Moderate for association with congenital heart disease (12/2/2024)

PMID: 33215447 Wang et al 2020 - novel heterozygous variation, NM_015995.3: c.370G>T; p.(Glu124*), co-segregating with congenital heart disease in a 3-generation Chinese family. Supportive functional evidence.

PMID: 35369534 Abhinav et al 2022 - NM_015995.3: c.430G>T; p.(Glu144*) co-segregated with congenital heart disease in a Han Chinese family. Supportive functional evidence.

PMID: 32293321 Li et al 2020 - Two heterozygous missense variants in two unrelated patients with congenital heart disease. However, they have much higher gnomAD frequencies - c.487C > T (P163S) (11 hets gnomAD v4) and c.467G > A (S156N)(22 hets gnomAD v4). No segregation information and the functional evidence was not convincing. This paper was included as genetic evidence in the ClinGen curation.
Sources: Literature; to: Curated by ClinGen as Moderate for association with congenital heart disease (12/2/2024)

PMID: 33215447 Wang et al 2020 - novel heterozygous variation, NM_015995.3: c.370G>T; p.(Glu124*), co-segregating with congenital heart disease in a 3-generation Chinese family. Supportive functional evidence.

PMID: 35369534 Abhinav et al 2022 - NM_015995.3: c.430G>T; p.(Glu144*) co-segregated with congenital heart disease in a Han Chinese family. Supportive functional evidence.

PMID: 32293321 Li et al 2020 - Two heterozygous missense variants in two unrelated patients with congenital heart disease. However, they have much higher gnomAD frequencies - c.487C > T (P163S) (11 hets gnomAD v4) and c.467G > A (S156N)(22 hets gnomAD v4). No segregation information and the functional evidence was not convincing. This paper was included as genetic evidence in the ClinGen curation.

Note monoallelic variants, particularly PTC, have also been reported in association with adult-onset DCM.
Sources: Literature
Cataract v0.384 ADAMTS10 Zornitza Stark Marked gene: ADAMTS10 as ready
Cataract v0.384 ADAMTS10 Zornitza Stark Gene: adamts10 has been classified as Green List (High Evidence).
Cataract v0.384 ADAMTS10 Zornitza Stark Phenotypes for gene: ADAMTS10 were changed from to Weill-Marchesani syndrome 1, recessive, MIM#277600
Cataract v0.383 ADAMTS10 Zornitza Stark Publications for gene: ADAMTS10 were set to
Cataract v0.382 ADAMTS10 Zornitza Stark Mode of inheritance for gene: ADAMTS10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.381 ADAMTS10 Zornitza Stark changed review comment from: Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, eye anomalies, including microspherophakia, ectopia of the lenses, severe myopia, and glaucoma, and, occasionally, heart defects.

Multiple families reported.

Sources: Expert list; to: Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, eye anomalies, including microspherophakia, ectopia of the lenses, severe myopia, and glaucoma, and, occasionally, heart defects.

Cataracts are a feature.

Multiple families reported.

Sources: Expert list
Cataract v0.381 ALDH18A1 Zornitza Stark Marked gene: ALDH18A1 as ready
Cataract v0.381 ALDH18A1 Zornitza Stark Gene: aldh18a1 has been classified as Green List (High Evidence).
Cataract v0.381 ALDH18A1 Zornitza Stark Phenotypes for gene: ALDH18A1 were changed from to Cutis laxa, autosomal recessive, type IIIA MIM#219150; Spastic paraplegia 9A, autosomal dominant MIM#601162; Spastic paraplegia 9B, autosomal recessive MIM#616586; Cutis laxa, autosomal dominant 3 MIM#616603
Cataract v0.380 ALDH18A1 Zornitza Stark Mode of inheritance for gene: ALDH18A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cataract v0.379 ALDH18A1 Zornitza Stark reviewed gene: ALDH18A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cutis laxa, autosomal recessive, type IIIA MIM#219150, Spastic paraplegia 9A, autosomal dominant MIM#601162, Spastic paraplegia 9B, autosomal recessive MIM#616586, Cutis laxa, autosomal dominant 3 MIM#616603; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital Heart Defect v0.482 KLF13 Krithika Murali gene: KLF13 was added
gene: KLF13 was added to Congenital Heart Defect. Sources: Literature
Mode of inheritance for gene: KLF13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KLF13 were set to PMID: 32293321; 35369534; 33215447
Phenotypes for gene: KLF13 were set to Congenital heart disease MONDO:0005453 - KLF13-related
Review for gene: KLF13 was set to AMBER
Added comment: Curated by ClinGen as Moderate for association with congenital heart disease (12/2/2024)

PMID: 33215447 Wang et al 2020 - novel heterozygous variation, NM_015995.3: c.370G>T; p.(Glu124*), co-segregating with congenital heart disease in a 3-generation Chinese family. Supportive functional evidence.

PMID: 35369534 Abhinav et al 2022 - NM_015995.3: c.430G>T; p.(Glu144*) co-segregated with congenital heart disease in a Han Chinese family. Supportive functional evidence.

PMID: 32293321 Li et al 2020 - Two heterozygous missense variants in two unrelated patients with congenital heart disease. However, they have much higher gnomAD frequencies - c.487C > T (P163S) (11 hets gnomAD v4) and c.467G > A (S156N)(22 hets gnomAD v4). No segregation information and the functional evidence was not convincing. This paper was included as genetic evidence in the ClinGen curation.
Sources: Literature
Cataract v0.379 Zornitza Stark Added reviews for gene AGPS from panel Mendeliome
Cataract v0.379 Zornitza Stark Added reviews for gene ADAMTS10 from panel Mendeliome
Autoinflammatory Disorders v2.31 LYN Zornitza Stark Marked gene: LYN as ready
Autoinflammatory Disorders v2.31 LYN Zornitza Stark Gene: lyn has been classified as Green List (High Evidence).
Arthrogryposis v1.0 Zornitza Stark promoted panel to version 1.0
Arthrogryposis v0.674 TUBB3 Zornitza Stark Marked gene: TUBB3 as ready
Arthrogryposis v0.674 TUBB3 Zornitza Stark Gene: tubb3 has been classified as Green List (High Evidence).
Arthrogryposis v0.674 Zornitza Stark Copied gene TUBB3 from panel Hereditary Neuropathy - complex
Arthrogryposis v0.674 TUBB3 Zornitza Stark gene: TUBB3 was added
gene: TUBB3 was added to Arthrogryposis. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TUBB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TUBB3 were set to 20074521; 34652576
Phenotypes for gene: TUBB3 were set to Fibrosis of extraocular muscles, congenital, 3A (MIM#600638); Neuropathy
Arthrogryposis v0.673 SVIL Zornitza Stark Marked gene: SVIL as ready
Arthrogryposis v0.673 SVIL Zornitza Stark Gene: svil has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.673 Zornitza Stark Copied gene SVIL from panel Mendeliome
Arthrogryposis v0.673 SVIL Zornitza Stark gene: SVIL was added
gene: SVIL was added to Arthrogryposis. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: SVIL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SVIL were set to 32779703
Phenotypes for gene: SVIL were set to Myofibrillar myopathy, MIM#619040
Penetrance for gene: SVIL were set to unknown
Genetic Epilepsy v1.282 SEC31A Zornitza Stark Marked gene: SEC31A as ready
Genetic Epilepsy v1.282 SEC31A Zornitza Stark Gene: sec31a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v1.440 SEC31A Zornitza Stark Phenotypes for gene: SEC31A were changed from ?Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies, OMIM #618651 to Halperin-Birk syndrome, MIM# 618651
Intellectual disability syndromic and non-syndromic v1.439 SEC31A Zornitza Stark Publications for gene: SEC31A were set to 30464055
Microcephaly v1.367 SEC31A Zornitza Stark Publications for gene: SEC31A were set to 30464055
Microcephaly v1.366 SEC31A Zornitza Stark Phenotypes for gene: SEC31A were changed from ?Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies, OMIM #618651 to Halperin-Birk syndrome, MIM# 618651
Mendeliome v1.3654 SEC31A Zornitza Stark Phenotypes for gene: SEC31A were changed from Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies, MIM# 618651; congenital neurodevelopmental syndrome; spastic paraplegia; multiple contractures; profound developmental delay; epilepsy; failure to thrive to Halperin-Birk syndrome, MIM# 618651
Mendeliome v1.3653 SEC31A Zornitza Stark Publications for gene: SEC31A were set to PMID: 30464055
Microcephaly v1.365 Zornitza Stark Added reviews for gene SEC31A from panel Arthrogryposis
Mendeliome v1.3652 Zornitza Stark Added reviews for gene SEC31A from panel Arthrogryposis
Intellectual disability syndromic and non-syndromic v1.438 Zornitza Stark Added reviews for gene SEC31A from panel Arthrogryposis
Genetic Epilepsy v1.282 Zornitza Stark Copied gene SEC31A from panel Arthrogryposis
Genetic Epilepsy v1.282 SEC31A Zornitza Stark gene: SEC31A was added
gene: SEC31A was added to Genetic Epilepsy. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: SEC31A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEC31A were set to 30464055; 40508110
Phenotypes for gene: SEC31A were set to Halperin-Birk syndrome, MIM# 618651
Arthrogryposis v0.672 SEC31A Zornitza Stark Marked gene: SEC31A as ready
Arthrogryposis v0.672 SEC31A Zornitza Stark Gene: sec31a has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.672 SEC31A Zornitza Stark Classified gene: SEC31A as Amber List (moderate evidence)
Arthrogryposis v0.672 SEC31A Zornitza Stark Gene: sec31a has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.671 SEC31A Zornitza Stark gene: SEC31A was added
gene: SEC31A was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: SEC31A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEC31A were set to 30464055; 40508110
Phenotypes for gene: SEC31A were set to Halperin-Birk syndrome, MIM# 618651
Review for gene: SEC31A was set to AMBER
Added comment: PMID 30464055 reports 2 individuals from 1 family with a homozygous frameshift duplication in SEC31A, and PMID 40508110 reports 1 individual from an unrelated family with a homozygous missense (p.Cys453Trp) variant; all present with severe congenital arthrogryposis, spastic quadriplegia, profound developmental delay, epilepsy, microcephaly and brain malformations.
Sources: Literature
Arthrogryposis v0.670 PSAT1 Zornitza Stark Marked gene: PSAT1 as ready
Arthrogryposis v0.670 PSAT1 Zornitza Stark Gene: psat1 has been classified as Green List (High Evidence).
Arthrogryposis v0.670 PSAT1 Zornitza Stark Classified gene: PSAT1 as Green List (high evidence)
Arthrogryposis v0.670 PSAT1 Zornitza Stark Gene: psat1 has been classified as Green List (High Evidence).
Arthrogryposis v0.669 PSAT1 Zornitza Stark gene: PSAT1 was added
gene: PSAT1 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSAT1 were set to 38278647
Phenotypes for gene: PSAT1 were set to Neu-Laxova syndrome 2, MIM# 616038
Review for gene: PSAT1 was set to GREEN
Added comment: Contractures are part of the phenotype at the severe end of the spectrum for this enzyme deficiency.
Sources: Literature
Arthrogryposis v0.668 PRUNE1 Zornitza Stark Marked gene: PRUNE1 as ready
Arthrogryposis v0.668 PRUNE1 Zornitza Stark Gene: prune1 has been classified as Green List (High Evidence).
Arthrogryposis v0.668 PRUNE1 Zornitza Stark Classified gene: PRUNE1 as Green List (high evidence)
Arthrogryposis v0.668 PRUNE1 Zornitza Stark Gene: prune1 has been classified as Green List (High Evidence).
Arthrogryposis v0.667 PRUNE1 Zornitza Stark gene: PRUNE1 was added
gene: PRUNE1 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: PRUNE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRUNE1 were set to 28334956
Phenotypes for gene: PRUNE1 were set to Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, MIM#617481
Review for gene: PRUNE1 was set to GREEN
Added comment: Progressive joint contractures are a feature.
Sources: Literature
Arthrogryposis v0.666 PIGS Zornitza Stark Marked gene: PIGS as ready
Arthrogryposis v0.666 PIGS Zornitza Stark Gene: pigs has been classified as Green List (High Evidence).
Arthrogryposis v0.666 PIGS Zornitza Stark Classified gene: PIGS as Green List (high evidence)
Arthrogryposis v0.666 PIGS Zornitza Stark Gene: pigs has been classified as Green List (High Evidence).
Arthrogryposis v0.665 PIGS Zornitza Stark gene: PIGS was added
gene: PIGS was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: PIGS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGS were set to 30269814
Phenotypes for gene: PIGS were set to Glycosylphosphatidylinositol biosynthesis defect 18, MIM# 618143
Review for gene: PIGS was set to GREEN
Added comment: Established gene-disease association. Can present with a spectrum of severity, including fetal akinesia with contractures.
Sources: Literature
Arthrogryposis v0.664 PHGDH Zornitza Stark Marked gene: PHGDH as ready
Arthrogryposis v0.664 PHGDH Zornitza Stark Gene: phgdh has been classified as Green List (High Evidence).
Arthrogryposis v0.664 PHGDH Zornitza Stark Classified gene: PHGDH as Green List (high evidence)
Arthrogryposis v0.664 PHGDH Zornitza Stark Gene: phgdh has been classified as Green List (High Evidence).
Arthrogryposis v0.663 PHGDH Zornitza Stark gene: PHGDH was added
gene: PHGDH was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PHGDH were set to 25913727
Phenotypes for gene: PHGDH were set to Neu-Laxova syndrome 1, MIM# 256520
Review for gene: PHGDH was set to GREEN
Added comment: Joint contractures are a feature at the severe end of the spectrum of this enzyme deficiency.
Sources: Literature
Arthrogryposis v0.662 NKAP Zornitza Stark Marked gene: NKAP as ready
Arthrogryposis v0.662 NKAP Zornitza Stark Gene: nkap has been classified as Green List (High Evidence).
Arthrogryposis v0.662 NKAP Zornitza Stark Classified gene: NKAP as Green List (high evidence)
Arthrogryposis v0.662 NKAP Zornitza Stark Gene: nkap has been classified as Green List (High Evidence).
Arthrogryposis v0.661 NKAP Zornitza Stark gene: NKAP was added
gene: NKAP was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: NKAP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: NKAP were set to 31587868
Phenotypes for gene: NKAP were set to Intellectual developmental disorder, X-linked syndromic, Hackman-Di Donato type, MIM# 301039
Review for gene: NKAP was set to GREEN
Added comment: PMID 31587868 reports 10 individuals from 8 unrelated families with X-linked recessive missense NKAP variants presenting with developmental delay/intellectual disability, hypotonia, joint contractures, Marfanoid habitus, scoliosis, tall stature and behavioral abnormalities. The NKAP variants are clustered in the C-terminal region where NKAP interacts with HDAC3 and post-catalytic spliceosomal complex proteins. Consistent with a role for the C-terminal region of NKAP in embryogenesis, nkap mutant zebrafish with a C-terminally truncated NKAP demonstrate severe developmental defects.
Sources: Literature
Arthrogryposis v0.660 MYO18B Zornitza Stark Marked gene: MYO18B as ready
Arthrogryposis v0.660 MYO18B Zornitza Stark Gene: myo18b has been classified as Green List (High Evidence).
Arthrogryposis v0.660 MYO18B Zornitza Stark Classified gene: MYO18B as Green List (high evidence)
Arthrogryposis v0.660 MYO18B Zornitza Stark Gene: myo18b has been classified as Green List (High Evidence).
Arthrogryposis v0.659 MYO18B Zornitza Stark gene: MYO18B was added
gene: MYO18B was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: MYO18B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYO18B were set to 33179433
Phenotypes for gene: MYO18B were set to Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, MIM# 616549
Review for gene: MYO18B was set to GREEN
Added comment: Established gene-disease association, distal arthrogryposis is a feature.
Sources: Literature
Arthrogryposis v0.658 MADD Zornitza Stark Marked gene: MADD as ready
Arthrogryposis v0.658 MADD Zornitza Stark Gene: madd has been classified as Green List (High Evidence).
Arthrogryposis v0.658 MADD Zornitza Stark Classified gene: MADD as Green List (high evidence)
Arthrogryposis v0.658 MADD Zornitza Stark Gene: madd has been classified as Green List (High Evidence).
Arthrogryposis v0.657 MADD Zornitza Stark gene: MADD was added
gene: MADD was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: MADD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MADD were set to 33723354
Phenotypes for gene: MADD were set to DEEAH syndrome, MIM# 619004
Review for gene: MADD was set to GREEN
Added comment: Distal arthrogryposis is a feature of this syndrome.
Sources: Literature
Arthrogryposis v0.656 IGHMBP2 Zornitza Stark Marked gene: IGHMBP2 as ready
Arthrogryposis v0.656 IGHMBP2 Zornitza Stark Gene: ighmbp2 has been classified as Green List (High Evidence).
Arthrogryposis v0.656 IGHMBP2 Zornitza Stark Classified gene: IGHMBP2 as Green List (high evidence)
Arthrogryposis v0.656 IGHMBP2 Zornitza Stark Gene: ighmbp2 has been classified as Green List (High Evidence).
Arthrogryposis v0.655 IGHMBP2 Zornitza Stark gene: IGHMBP2 was added
gene: IGHMBP2 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: IGHMBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IGHMBP2 were set to 10521314; 27570397
Phenotypes for gene: IGHMBP2 were set to Neuronopathy, distal hereditary motor, autosomal recessive 1, MIM# 604320
Review for gene: IGHMBP2 was set to GREEN
Added comment: Established gene-disease association, contractures are part of the phenotype.
Sources: Literature
Arthrogryposis v0.654 GAD1 Zornitza Stark Marked gene: GAD1 as ready
Arthrogryposis v0.654 GAD1 Zornitza Stark Gene: gad1 has been classified as Green List (High Evidence).
Arthrogryposis v0.654 GAD1 Zornitza Stark Classified gene: GAD1 as Green List (high evidence)
Arthrogryposis v0.654 GAD1 Zornitza Stark Gene: gad1 has been classified as Green List (High Evidence).
Arthrogryposis v0.653 GAD1 Zornitza Stark gene: GAD1 was added
gene: GAD1 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: GAD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GAD1 were set to 32282878
Phenotypes for gene: GAD1 were set to Developmental and epileptic encephalopathy 89, MIM# 619124
Review for gene: GAD1 was set to GREEN
Added comment: Eight of the 11 affected individuals reported in the gene discovery paper had joint contractures.
Sources: Literature
Arthrogryposis v0.652 ERCC2 Zornitza Stark Marked gene: ERCC2 as ready
Arthrogryposis v0.652 ERCC2 Zornitza Stark Gene: ercc2 has been classified as Green List (High Evidence).
Arthrogryposis v0.652 ERCC2 Zornitza Stark Classified gene: ERCC2 as Green List (high evidence)
Arthrogryposis v0.652 ERCC2 Zornitza Stark Gene: ercc2 has been classified as Green List (High Evidence).
Arthrogryposis v0.651 ERCC2 Zornitza Stark gene: ERCC2 was added
gene: ERCC2 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC2 were set to 33369099; 32557569; 25716912
Phenotypes for gene: ERCC2 were set to Cerebrooculofacioskeletal syndrome 2, MIM# 610756
Review for gene: ERCC2 was set to GREEN
Added comment: DNA repair disorder. At the severe end of the spectrums associated with COFS, contractures are part of the phenotype.
Sources: Literature
Arthrogryposis v0.650 EMD Zornitza Stark Marked gene: EMD as ready
Arthrogryposis v0.650 EMD Zornitza Stark Gene: emd has been classified as Green List (High Evidence).
Arthrogryposis v0.650 EMD Zornitza Stark Classified gene: EMD as Green List (high evidence)
Arthrogryposis v0.650 EMD Zornitza Stark Gene: emd has been classified as Green List (High Evidence).
Arthrogryposis v0.649 EMD Zornitza Stark gene: EMD was added
gene: EMD was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: EMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: EMD were set to 26247046; 34026875; 35175440; 36031908; 37257496
Phenotypes for gene: EMD were set to Emery-Dreifuss muscular dystrophy 1, X-linked, MIM#310300
Review for gene: EMD was set to GREEN
Added comment: Established gene-disease association, joint contractures are part of the phenotype.
Sources: Literature
Arthrogryposis v0.648 DSE Zornitza Stark Marked gene: DSE as ready
Arthrogryposis v0.648 DSE Zornitza Stark Gene: dse has been classified as Green List (High Evidence).
Arthrogryposis v0.648 DSE Zornitza Stark Classified gene: DSE as Green List (high evidence)
Arthrogryposis v0.648 DSE Zornitza Stark Gene: dse has been classified as Green List (High Evidence).
Arthrogryposis v0.647 DSE Zornitza Stark gene: DSE was added
gene: DSE was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: DSE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DSE were set to 25703627; 32130795; 35842784; 36902515
Phenotypes for gene: DSE were set to Ehlers-Danlos syndrome, musculocontractural type 2, MIM# 615539
Review for gene: DSE was set to GREEN
Added comment: Established gene-disease association, contractures are key part of the phenotype.
Sources: Literature
Arthrogryposis v0.646 COG6 Zornitza Stark Marked gene: COG6 as ready
Arthrogryposis v0.646 COG6 Zornitza Stark Gene: cog6 has been classified as Green List (High Evidence).
Arthrogryposis v0.646 COG6 Zornitza Stark Classified gene: COG6 as Green List (high evidence)
Arthrogryposis v0.646 COG6 Zornitza Stark Gene: cog6 has been classified as Green List (High Evidence).
Arthrogryposis v0.645 COG6 Zornitza Stark gene: COG6 was added
gene: COG6 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: COG6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COG6 were set to 32905044; 35048409; 35068072; 38278647; 40213872
Phenotypes for gene: COG6 were set to Congenital disorder of glycosylation, type IIl 614576
Review for gene: COG6 was set to GREEN
Added comment: Established gene-disease association, multiple reports of arthrogryposis.
Sources: Literature
Arthrogryposis v0.644 BRAT1 Zornitza Stark Marked gene: BRAT1 as ready
Arthrogryposis v0.644 BRAT1 Zornitza Stark Gene: brat1 has been classified as Green List (High Evidence).
Arthrogryposis v0.644 BRAT1 Zornitza Stark Classified gene: BRAT1 as Green List (high evidence)
Arthrogryposis v0.644 BRAT1 Zornitza Stark Gene: brat1 has been classified as Green List (High Evidence).
Arthrogryposis v0.643 BRAT1 Zornitza Stark gene: BRAT1 was added
gene: BRAT1 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: BRAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BRAT1 were set to 36599696
Phenotypes for gene: BRAT1 were set to Rigidity and multifocal seizure syndrome, lethal neonatal, MIM# 614498
Review for gene: BRAT1 was set to GREEN
Added comment: PMID 36599696 reviews a cohort of 19 neonates with this condition, 7/19 (37%) had arthrogryposis at birth.
Sources: Literature
Arthrogryposis v0.642 B3GAT3 Zornitza Stark Marked gene: B3GAT3 as ready
Arthrogryposis v0.642 B3GAT3 Zornitza Stark Gene: b3gat3 has been classified as Green List (High Evidence).
Arthrogryposis v0.642 B3GAT3 Zornitza Stark Classified gene: B3GAT3 as Green List (high evidence)
Arthrogryposis v0.642 B3GAT3 Zornitza Stark Gene: b3gat3 has been classified as Green List (High Evidence).
Arthrogryposis v0.641 B3GAT3 Zornitza Stark gene: B3GAT3 was added
gene: B3GAT3 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: B3GAT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B3GAT3 were set to 35151321; 31196143; 26086840
Phenotypes for gene: B3GAT3 were set to Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects -MIM#245600
Review for gene: B3GAT3 was set to GREEN
Added comment: Established gene-disease association. Joint contractures as well as dislocations are part of the phenotype.
Sources: Literature
Arthrogryposis v0.640 ATN1 Zornitza Stark Marked gene: ATN1 as ready
Arthrogryposis v0.640 ATN1 Zornitza Stark Gene: atn1 has been classified as Green List (High Evidence).
Arthrogryposis v0.640 ATN1 Zornitza Stark Classified gene: ATN1 as Green List (high evidence)
Arthrogryposis v0.640 ATN1 Zornitza Stark Gene: atn1 has been classified as Green List (High Evidence).
Arthrogryposis v0.639 ATN1 Zornitza Stark gene: ATN1 was added
gene: ATN1 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: ATN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATN1 were set to 34212383
Phenotypes for gene: ATN1 were set to Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, MIM# 618494
Review for gene: ATN1 was set to GREEN
Added comment: Nine individuals reported with de novo missense or in-frame deletions/duplications within the "HX motif" of exon 7 of ATN1 and presenting with 'congenital hypotonia, epilepsy, developmental delay, and digital anomalies (CHEDDA)' syndrome, distinct from dentatorubral-pallidoluysian atrophy (DRPLA) secondary to expansion variants in exon 5 of ATN1.

Arthrogryposis is a feature.
Sources: Literature
Arthrogryposis v0.638 ASAH1 Zornitza Stark Marked gene: ASAH1 as ready
Arthrogryposis v0.638 ASAH1 Zornitza Stark Gene: asah1 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.638 ASAH1 Zornitza Stark Classified gene: ASAH1 as Amber List (moderate evidence)
Arthrogryposis v0.638 ASAH1 Zornitza Stark Gene: asah1 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.637 ASAH1 Zornitza Stark gene: ASAH1 was added
gene: ASAH1 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: ASAH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASAH1 were set to 31022067
Phenotypes for gene: ASAH1 were set to Farber lipogranulomatosis, MIM# 228000
Review for gene: ASAH1 was set to AMBER
Added comment: Progressive joint contractures can be part of the phenotype.
Sources: Literature
Arthrogryposis v0.636 ALG14 Zornitza Stark Marked gene: ALG14 as ready
Arthrogryposis v0.636 ALG14 Zornitza Stark Gene: alg14 has been classified as Green List (High Evidence).
Arthrogryposis v0.636 ALG14 Zornitza Stark Classified gene: ALG14 as Green List (high evidence)
Arthrogryposis v0.636 ALG14 Zornitza Stark Gene: alg14 has been classified as Green List (High Evidence).
Arthrogryposis v0.635 ALG14 Zornitza Stark gene: ALG14 was added
gene: ALG14 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: ALG14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG14 were set to 28733338; 34971077
Phenotypes for gene: ALG14 were set to ALG14-congenital disorder of glycosylation, MONDO:0100559
Review for gene: ALG14 was set to GREEN
Added comment: Variants in this gene cause a range of phenotypes consistent with a CDG, but at least 4 unrelated families reported with multiple contractures.
Sources: Literature
Arthrogryposis v0.634 ACTB Zornitza Stark Marked gene: ACTB as ready
Arthrogryposis v0.634 ACTB Zornitza Stark Gene: actb has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.634 ACTB Zornitza Stark Classified gene: ACTB as Amber List (moderate evidence)
Arthrogryposis v0.634 ACTB Zornitza Stark Gene: actb has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.633 ACTB Zornitza Stark gene: ACTB was added
gene: ACTB was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACTB were set to 32588558; 27625340
Phenotypes for gene: ACTB were set to Baraitser-Winter syndrome 1 (MIM#243310)
Review for gene: ACTB was set to AMBER
Added comment: Contractures reported in some affected individuals.
Sources: Literature
Mendeliome v1.3651 KCTD19 Zornitza Stark Marked gene: KCTD19 as ready
Mendeliome v1.3651 KCTD19 Zornitza Stark Gene: kctd19 has been classified as Green List (High Evidence).
Mendeliome v1.3651 Zornitza Stark Copied gene KCTD19 from panel Infertility and Recurrent Pregnancy Loss
Mendeliome v1.3651 KCTD19 Zornitza Stark gene: KCTD19 was added
gene: KCTD19 was added to Mendeliome. Sources: Expert Review Green,Literature
Mode of inheritance for gene: KCTD19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KCTD19 were set to 37192818; 37485353; 39318590; 40410542; 41221840
Phenotypes for gene: KCTD19 were set to Infertility disorder, MONDO:0005047, KCTD19-related
Infertility and Recurrent Pregnancy Loss v1.55 KCTD19 Zornitza Stark Marked gene: KCTD19 as ready
Infertility and Recurrent Pregnancy Loss v1.55 KCTD19 Zornitza Stark Gene: kctd19 has been classified as Green List (High Evidence).
Infertility and Recurrent Pregnancy Loss v1.55 KCTD19 Zornitza Stark Classified gene: KCTD19 as Green List (high evidence)
Infertility and Recurrent Pregnancy Loss v1.55 KCTD19 Zornitza Stark Gene: kctd19 has been classified as Green List (High Evidence).
Infertility and Recurrent Pregnancy Loss v1.54 KCTD19 Zornitza Stark gene: KCTD19 was added
gene: KCTD19 was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature
Mode of inheritance for gene: KCTD19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KCTD19 were set to 37192818; 37485353; 39318590; 40410542; 41221840
Phenotypes for gene: KCTD19 were set to Infertility disorder, MONDO:0005047, KCTD19-related
Review for gene: KCTD19 was set to GREEN
Added comment: More than 15 individuals from 10 unrelated families reported with bi-allelic variants in this gene and male infertility. Supportive functional data.
Sources: Literature
Cerebral Palsy v1.402 ZMYND11 Zornitza Stark Marked gene: ZMYND11 as ready
Cerebral Palsy v1.402 ZMYND11 Zornitza Stark Gene: zmynd11 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.402 ZMYND11 Zornitza Stark Classified gene: ZMYND11 as Red List (low evidence)
Cerebral Palsy v1.402 ZMYND11 Zornitza Stark Gene: zmynd11 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.401 TRIT1 Zornitza Stark Marked gene: TRIT1 as ready
Cerebral Palsy v1.401 TRIT1 Zornitza Stark Gene: trit1 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.401 TRIT1 Zornitza Stark Classified gene: TRIT1 as Red List (low evidence)
Cerebral Palsy v1.401 TRIT1 Zornitza Stark Gene: trit1 has been classified as Red List (Low Evidence).
Neurodegeneration with brain iron accumulation v1.3 ATP13A2 Zornitza Stark Marked gene: ATP13A2 as ready
Neurodegeneration with brain iron accumulation v1.3 ATP13A2 Zornitza Stark Gene: atp13a2 has been classified as Green List (High Evidence).
Neurodegeneration with brain iron accumulation v1.3 ATP13A2 Zornitza Stark Publications for gene: ATP13A2 were set to
Intellectual disability syndromic and non-syndromic v1.437 RNU6ATAC Zornitza Stark Marked gene: RNU6ATAC as ready
Intellectual disability syndromic and non-syndromic v1.437 RNU6ATAC Zornitza Stark Gene: rnu6atac has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v1.437 RNU6ATAC Zornitza Stark Classified gene: RNU6ATAC as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v1.437 RNU6ATAC Zornitza Stark Gene: rnu6atac has been classified as Red List (Low Evidence).
Genetic Epilepsy v1.281 RNU6ATAC Zornitza Stark Marked gene: RNU6ATAC as ready
Genetic Epilepsy v1.281 RNU6ATAC Zornitza Stark Gene: rnu6atac has been classified as Red List (Low Evidence).
Mendeliome v1.3650 MAFA Zornitza Stark Marked gene: MAFA as ready
Mendeliome v1.3650 MAFA Zornitza Stark Gene: mafa has been classified as Green List (High Evidence).
Mendeliome v1.3650 MAFA Zornitza Stark Classified gene: MAFA as Green List (high evidence)
Mendeliome v1.3650 MAFA Zornitza Stark Gene: mafa has been classified as Green List (High Evidence).
Cataract v0.378 SRD5A3 Zornitza Stark Marked gene: SRD5A3 as ready
Cataract v0.378 SRD5A3 Zornitza Stark Gene: srd5a3 has been classified as Green List (High Evidence).
Cataract v0.378 SRD5A3 Zornitza Stark Phenotypes for gene: SRD5A3 were changed from to Kahrizi syndrome, MIM# 612713
Cataract v0.377 SRD5A3 Zornitza Stark Mode of inheritance for gene: SRD5A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.376 SRD5A3 Zornitza Stark Publications for gene: SRD5A3 were set to
Retinitis pigmentosa v0.223 ACTG1 Zornitza Stark Marked gene: ACTG1 as ready
Retinitis pigmentosa v0.223 ACTG1 Zornitza Stark Gene: actg1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3649 Zornitza Stark Added reviews for gene C1GALT1C1 from panel Atypical Haemolytic Uraemic Syndrome_MPGN
Atypical Haemolytic Uraemic Syndrome_MPGN v0.55 C1GALT1C1 Zornitza Stark Classified gene: C1GALT1C1 as Green List (high evidence)
Atypical Haemolytic Uraemic Syndrome_MPGN v0.55 C1GALT1C1 Zornitza Stark Gene: c1galt1c1 has been classified as Green List (High Evidence).
Retinitis pigmentosa v0.223 DHX38 Zornitza Stark Marked gene: DHX38 as ready
Retinitis pigmentosa v0.223 DHX38 Zornitza Stark Added comment: Comment when marking as ready: Maintain Amber rating after reviewing PMID 35719279: another homozygous ?synonymous variant without supportive data.
Retinitis pigmentosa v0.223 DHX38 Zornitza Stark Gene: dhx38 has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa v0.223 DHX38 Zornitza Stark Publications for gene: DHX38 were set to 24737827; 30208423
Retinitis pigmentosa v0.222 Zornitza Stark Added reviews for gene DHX38 from panel Mendeliome
Mendeliome v1.3648 DHX38 Zornitza Stark Marked gene: DHX38 as ready
Mendeliome v1.3648 DHX38 Zornitza Stark Added comment: Comment when marking as ready: Maintain Amber rating after reviewing PMID 35719279, another homozygous ?synonymous variant with little supportive data.
Mendeliome v1.3648 DHX38 Zornitza Stark Gene: dhx38 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3648 DHX38 Zornitza Stark Publications for gene: DHX38 were set to 24737827; 30208423
Mendeliome v1.3647 ASIC5 Zornitza Stark Marked gene: ASIC5 as ready
Mendeliome v1.3647 ASIC5 Zornitza Stark Gene: asic5 has been classified as Red List (Low Evidence).
Mendeliome v1.3647 Zornitza Stark Copied gene ASIC5 from panel Infertility and Recurrent Pregnancy Loss
Mendeliome v1.3647 ASIC5 Zornitza Stark gene: ASIC5 was added
gene: ASIC5 was added to Mendeliome. Sources: Expert Review Red,Literature
Mode of inheritance for gene: ASIC5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASIC5 were set to PMID: 34395479
Phenotypes for gene: ASIC5 were set to Unexplained recurrent pregnancy loss
Infertility and Recurrent Pregnancy Loss v1.53 ASIC5 Zornitza Stark Marked gene: ASIC5 as ready
Infertility and Recurrent Pregnancy Loss v1.53 ASIC5 Zornitza Stark Gene: asic5 has been classified as Red List (Low Evidence).
Infertility and Recurrent Pregnancy Loss v1.53 ASIC5 Zornitza Stark Classified gene: ASIC5 as Red List (low evidence)
Infertility and Recurrent Pregnancy Loss v1.53 ASIC5 Zornitza Stark Gene: asic5 has been classified as Red List (Low Evidence).
Infertility and Recurrent Pregnancy Loss v1.52 ASIC5 Zornitza Stark reviewed gene: ASIC5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Red cell disorders v1.39 A4GALT Zornitza Stark Marked gene: A4GALT as ready
Red cell disorders v1.39 A4GALT Zornitza Stark Gene: a4galt has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v1.79 A4GALT Zornitza Stark Marked gene: A4GALT as ready
Congenital Disorders of Glycosylation v1.79 A4GALT Zornitza Stark Gene: a4galt has been classified as Green List (High Evidence).
Red cell disorders v1.39 Zornitza Stark Copied gene A4GALT from panel Mendeliome
Red cell disorders v1.39 A4GALT Zornitza Stark gene: A4GALT was added
gene: A4GALT was added to Red cell disorders. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: A4GALT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: A4GALT were set to 12823750; 15142124; 10747952; 10993874; 11896312; 27612185
Phenotypes for gene: A4GALT were set to A4GALT-congenital disorder of glycosylation MONDO:0100587
Congenital Disorders of Glycosylation v1.79 Zornitza Stark Copied gene A4GALT from panel Mendeliome
Congenital Disorders of Glycosylation v1.79 A4GALT Zornitza Stark gene: A4GALT was added
gene: A4GALT was added to Congenital Disorders of Glycosylation. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: A4GALT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: A4GALT were set to 12823750; 15142124; 10747952; 10993874; 11896312; 27612185
Phenotypes for gene: A4GALT were set to A4GALT-congenital disorder of glycosylation MONDO:0100587
Mendeliome v1.3646 A4GALT Zornitza Stark Phenotypes for gene: A4GALT were changed from [Blood group, P1Pk system, p phenotype], MIM# 111400 to A4GALT-congenital disorder of glycosylation MONDO:0100587
Mendeliome v1.3645 A4GALT Zornitza Stark Publications for gene: A4GALT were set to
Mendeliome v1.3644 A4GALT Zornitza Stark Mode of inheritance for gene: A4GALT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.3643 A4GALT Zornitza Stark Classified gene: A4GALT as Green List (high evidence)
Mendeliome v1.3643 A4GALT Zornitza Stark Gene: a4galt has been classified as Green List (High Evidence).
Cardiac conduction disease v1.4 TRPM4 Zornitza Stark Publications for gene: TRPM4 were set to 19726882; 26820365; 21887725; 32681584; 20562447; 25531103; 27207958; 29568272; 29748318; 36352534; 35205305
Cardiac conduction disease v1.3 TRPM4 Zornitza Stark reviewed gene: TRPM4: Rating: AMBER; Mode of pathogenicity: None; Publications: 41195386; Phenotypes: progressive familial heart block type IB MONDO:0011474; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v2.31 ZNF334 Zornitza Stark Marked gene: ZNF334 as ready
Autoinflammatory Disorders v2.31 ZNF334 Zornitza Stark Gene: znf334 has been classified as Red List (Low Evidence).
Autoinflammatory Disorders v2.31 Zornitza Stark Copied gene ZNF334 from panel Mendeliome
Autoinflammatory Disorders v2.31 ZNF334 Zornitza Stark gene: ZNF334 was added
gene: ZNF334 was added to Autoinflammatory Disorders. Sources: Expert Review Red,Literature
Mode of inheritance for gene: ZNF334 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZNF334 were set to PIMD: 41168503
Phenotypes for gene: ZNF334 were set to Familial cold autoinflammatory syndrome, MONDO:0018768, ZNF334-related
Mendeliome v1.3642 ZNF334 Zornitza Stark Marked gene: ZNF334 as ready
Mendeliome v1.3642 ZNF334 Zornitza Stark Gene: znf334 has been classified as Red List (Low Evidence).
Joubert syndrome and other neurological ciliopathies v1.32 SUFU Lucy Spencer Phenotypes for gene: SUFU were changed from Joubert syndrome 32, MIM#617757; SUFU-related neurodevelopmental disorder, Joubert-like to Joubert syndrome 32, MIM#617757; Neurodevelopmental disorder, MONDO:0700092, SUFU-related
Ataxia v1.64 SUFU Lucy Spencer Phenotypes for gene: SUFU were changed from congenital ocular motor apraxia (forme fruste of Joubert syndrome) to Joubert syndrome 32, MIM#617757; Neurodevelopmental disorder, MONDO:0700092, SUFU-related
Intellectual disability syndromic and non-syndromic v1.436 SUFU Lucy Spencer Phenotypes for gene: SUFU were changed from Joubert syndrome 32, MIM#617757; SUFU-related neurodevelopmental syndrome to Joubert syndrome 32, MIM#617757; Neurodevelopmental disorder, MONDO:0700092, SUFU-related
Genetic Epilepsy v1.281 NCKAP1 Zornitza Stark Marked gene: NCKAP1 as ready
Genetic Epilepsy v1.281 NCKAP1 Zornitza Stark Gene: nckap1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.281 NCKAP1 Zornitza Stark commented on gene: NCKAP1: 7/17 individuals reported as having seizures.
Genetic Epilepsy v1.281 Zornitza Stark Copied gene NCKAP1 from panel Intellectual disability syndromic and non-syndromic
Genetic Epilepsy v1.281 NCKAP1 Zornitza Stark gene: NCKAP1 was added
gene: NCKAP1 was added to Genetic Epilepsy. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NCKAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NCKAP1 were set to 33157009
Phenotypes for gene: NCKAP1 were set to Neurodevelopmental disorder (MONDO#0700092)​​​​​​​, NCKAP1-related
Fetal anomalies v1.472 GPKOW Zornitza Stark Publications for gene: GPKOW were set to 28612833; 40221893
Microcephaly v1.364 GPKOW Zornitza Stark Publications for gene: GPKOW were set to PMID: 40221893, 28612833
Microcephaly v1.363 GPKOW Zornitza Stark Mode of inheritance for gene: GPKOW was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v1.3642 GPKOW Zornitza Stark Publications for gene: GPKOW were set to 28612833; 40221893
Microcephaly v1.362 Zornitza Stark Added reviews for gene GPKOW from panel Mendeliome
Fetal anomalies v1.471 Zornitza Stark Added reviews for gene GPKOW from panel Mendeliome
Mendeliome v1.3641 GPKOW Zornitza Stark changed review comment from: Possible additional report in PMID 32426895, adult proband, extreme short stature and microcephaly, severe ID. De novo missense p.Gly427Arg.; to: Possible additional report in PMID 32426895, adult proband, extreme short stature and microcephaly, severe ID. De novo missense p.Gly427Arg.

MODERATE by ClinGen.
Mendeliome v1.3641 GPKOW Zornitza Stark reviewed gene: GPKOW: Rating: GREEN; Mode of pathogenicity: None; Publications: 32426895; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v1.3641 ARFGEF1 Zornitza Stark commented on gene: ARFGEF1: DEFINITIVE by ClinGen.
Mendeliome v1.3641 COL4A2 Zornitza Stark Phenotypes for gene: COL4A2 were changed from Cerebral Palsy MONDO#0006497, COL4A2-related; Brain small vessel disease 2 MIM# 614483 to Cerebral Palsy MONDO#0006497, COL4A2-related; Brain small vessel disease 2A, autosomal dominant MIM# 614483; Brain small vessel disease 2B, autosomal recessive, MIM# 621414
Mendeliome v1.3640 COL4A2 Zornitza Stark reviewed gene: COL4A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Brain small vessel disease 2B, autosomal recessive, MIM# 621414; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v1.435 Zornitza Stark Added reviews for gene GLS from panel Mendeliome
Genetic Epilepsy v1.280 Zornitza Stark Added reviews for gene GLS from panel Mendeliome
Aminoacidopathy v1.138 Zornitza Stark Added reviews for gene GLS from panel Mendeliome
Severe early-onset obesity v1.22 BSN Zornitza Stark Marked gene: BSN as ready
Severe early-onset obesity v1.22 BSN Zornitza Stark Gene: bsn has been classified as Green List (High Evidence).
Severe early-onset obesity v1.22 BSN Zornitza Stark Phenotypes for gene: BSN were changed from Epilepsy; developmental delay; obesity to Neurodevelopmental disorder (MONDO:0700092), BSN-related
Severe early-onset obesity v1.21 BSN Zornitza Stark Classified gene: BSN as Green List (high evidence)
Severe early-onset obesity v1.21 BSN Zornitza Stark Gene: bsn has been classified as Green List (High Evidence).
Mendeliome v1.3640 GLB1 Zornitza Stark Phenotypes for gene: GLB1 were changed from GM1 gangliosidosis MONDO:0018149; GM1-gangliosidosis, type I MIM#230500; GM1-gangliosidosis, type II MIM# 230600; GM1-gangliosidosis, type III MIM#230650; Mucopolysaccharidosis type IVB (Morquio) MIM#253010 to GM1 gangliosidosis MONDO:0018149; Mucopolysaccharidosis type IVB (Morquio) MIM#253010
Glycogen Storage Diseases v1.4 GBE1 Zornitza Stark Phenotypes for gene: GBE1 were changed from Glycogen storage disease IV, MIM# 232500 to Glycogen storage disease due to glycogen branching enzyme deficiency MONDO:0009292
Glycogen Storage Diseases v1.3 GBE1 Zornitza Stark edited their review of gene: GBE1: Changed phenotypes: Glycogen storage disease due to glycogen branching enzyme deficiency MONDO:0009292
Mendeliome v1.3639 GBE1 Zornitza Stark Phenotypes for gene: GBE1 were changed from Glycogen storage disease due to glycogen branching enzyme deficiency MONDO:0009292; Glycogen storage disease IV, MIM# 232500; Polyglucosan body disease, adult form MIM#263570 to Glycogen storage disease due to glycogen branching enzyme deficiency MONDO:0009292
Congenital diaphragmatic hernia v1.18 GATA6 Zornitza Stark Phenotypes for gene: GATA6 were changed from Pancreatic agenesis and congenital heart defects, MIM# 600001 to GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes MONDO:0100540
Congenital diaphragmatic hernia v1.17 GATA6 Zornitza Stark edited their review of gene: GATA6: Changed phenotypes: GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes MONDO:0100540
Congenital Heart Defect v0.481 GATA6 Zornitza Stark Phenotypes for gene: GATA6 were changed from Pancreatic agenesis and congenital heart defects, MIM# 600001 to GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes MONDO:0100540
Congenital Heart Defect v0.480 GATA6 Zornitza Stark reviewed gene: GATA6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes MONDO:0100540; Mode of inheritance: None
Mendeliome v1.3638 GATA6 Zornitza Stark Phenotypes for gene: GATA6 were changed from GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes MONDO:0100540; Pancreatic agenesis and congenital heart defects, 600001; Atrial septal defect 9, 614475; Atrioventricular septal defect 5, 614474; Tetralogy of Fallot, 187500; Persistent truncus arteriosus, 217095 to GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes MONDO:0100540
Congenital Heart Defect v0.480 GATA4 Zornitza Stark Phenotypes for gene: GATA4 were changed from Atrial septal defect 2 MIM#607941; Atrioventricular septal defect 4 MIM#614430; Ventricular septal defect 1 MIM#614429 to Structural congenital heart disease, multiple types - GATA4 MONDO:0100009
Congenital Heart Defect v0.479 GATA4 Zornitza Stark edited their review of gene: GATA4: Changed phenotypes: Structural congenital heart disease, multiple types - GATA4 MONDO:0100009
Mendeliome v1.3637 GATA4 Zornitza Stark Phenotypes for gene: GATA4 were changed from Structural congenital heart disease, multiple types - GATA4 MONDO:0100009; Atrial septal defect 2 MIM#607941; Atrioventricular septal defect 4 MIM#614430; Ventricular septal defect 1 MIM#614429 to Structural congenital heart disease, multiple types - GATA4 MONDO:0100009
Deafness_IsolatedAndComplex v1.295 GATA2 Zornitza Stark Phenotypes for gene: GATA2 were changed from Emberger syndrome, MIM# 614038; Deafness-lymphoedema-leukaemia syndrome MONDO:0013540 to GATA2 deficiency with susceptibility to MDS/AML MONDO:0042982
Deafness_IsolatedAndComplex v1.294 GATA2 Zornitza Stark edited their review of gene: GATA2: Changed phenotypes: GATA2 deficiency with susceptibility to MDS/AML MONDO:0042982
Bone Marrow Failure v1.130 GATA2 Zornitza Stark Phenotypes for gene: GATA2 were changed from Immunodeficiency 21, MIM# 614172; GATA2 deficiency with susceptibility to MDS/AML MONDO:0042982; Emberger syndrome, MIM# 614038; Deafness-lymphoedema-leukaemia syndrome MONDO:0013540 to GATA2 deficiency with susceptibility to MDS/AML MONDO:0042982
Bone Marrow Failure v1.129 GATA2 Zornitza Stark edited their review of gene: GATA2: Added comment: Lumped by ClinGen.; Changed phenotypes: GATA2 deficiency with susceptibility to MDS/AML MONDO:0042982
Mendeliome v1.3636 GATA2 Zornitza Stark Phenotypes for gene: GATA2 were changed from Immunodeficiency 21, MIM# 614172; GATA2 deficiency with susceptibility to MDS/AML MONDO:0042982; Emberger syndrome, MIM# 614038; Deafness-lymphoedema-leukaemia syndrome MONDO:0013540 to GATA2 deficiency with susceptibility to MDS/AML MONDO:0042982
Intellectual disability syndromic and non-syndromic v1.434 GAD1 Zornitza Stark Phenotypes for gene: GAD1 were changed from Cerebral palsy, spastic quadriplegic, 1, MIM#603513; Developmental and epileptic encephalopathy 89, MIM# 619124 to Developmental and epileptic encephalopathy 89, MIM# 619124
Mendeliome v1.3635 GLS Lucy Spencer Phenotypes for gene: GLS were changed from Epileptic encephalopathy, early infantile, 71, MIM# 618328; Global developmental delay, progressive ataxia, and elevated glutamine, MIM# 618412; Cataract to Epileptic encephalopathy, early infantile, 71, MIM#618328; Global developmental delay, progressive ataxia, and elevated glutamine, MIM#618412; CASGID syndrome MIM#618339
Mendeliome v1.3634 GLS Lucy Spencer reviewed gene: GLS: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: CASGID syndrome MIM#618339; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Severe early-onset obesity v1.20 BSN Sinead OSullivan gene: BSN was added
gene: BSN was added to Severe early-onset obesity. Sources: Literature
Mode of inheritance for gene: BSN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BSN were set to 40393460
Phenotypes for gene: BSN were set to Epilepsy; developmental delay; obesity
Review for gene: BSN was set to GREEN
Added comment: Guzman et al 2025: Described 12 additional patients with missense (3/12) and premature termination variants (9/12) which included de novo and inherited variants, suggesting incomplete penetrance.

They assessed all reported patients (n=29) which revealed common clinical characteristics including epilepsy(13/29), febrile seizures (7/29), generalised tonic-clonic seizures (5/29), and focal-onset seizures (3/29). Behavioural phenotypes were present in almost half of all individuals (14/29), which included ADHD (7/29) and autistic behaviour (5/29). Additional common features included developmental delay (11/29), obesity (10/29), and delayed speech (8/29). In adults with BSN PTVs, milder features were common, suggesting phenotypic variability, including a range of individuals without obvious neurodevelopmental features (7/29).
Sources: Literature
Mendeliome v1.3634 GLI1 Lucy Spencer Phenotypes for gene: GLI1 were changed from Polydactyly, postaxial, type A8 MIM#618123; Polydactyly, preaxial I MIM#174400 to Postaxial polydactyly MONDO:0020927, GLI1-related; Polydactyly, postaxial, type A8 MIM#618123; Polydactyly, preaxial I MIM#174400
Mendeliome v1.3633 GLI1 Lucy Spencer reviewed gene: GLI1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Postaxial polydactyly MONDO:0020927, GLI1-related; Mode of inheritance: None
Mendeliome v1.3633 CACNA1A Zornitza Stark Phenotypes for gene: CACNA1A were changed from Episodic ataxia, type 2 MIM#108500 to Developmental and epileptic encephalopathy 42, MIM# 617106
Mendeliome v1.3632 GLB1 Lucy Spencer Phenotypes for gene: GLB1 were changed from GM1-gangliosidosis, type I MIM#230500; GM1-gangliosidosis, type II MIM# 230600; GM1-gangliosidosis, type III MIM#230650; Mucopolysaccharidosis type IVB (Morquio) MIM#253010 to GM1 gangliosidosis MONDO:0018149; GM1-gangliosidosis, type I MIM#230500; GM1-gangliosidosis, type II MIM# 230600; GM1-gangliosidosis, type III MIM#230650; Mucopolysaccharidosis type IVB (Morquio) MIM#253010
Mendeliome v1.3631 GLB1 Lucy Spencer reviewed gene: GLB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: GM1 gangliosidosis MONDO:0018149; Mode of inheritance: None
Mendeliome v1.3631 GJC2 Lucy Spencer commented on gene: GJC2
Mendeliome v1.3631 GBE1 Lucy Spencer Phenotypes for gene: GBE1 were changed from Glycogen storage disease IV, MIM# 232500; Polyglucosan body disease, adult form MIM#263570 to Glycogen storage disease due to glycogen branching enzyme deficiency MONDO:0009292; Glycogen storage disease IV, MIM# 232500; Polyglucosan body disease, adult form MIM#263570
Mendeliome v1.3630 GBE1 Lucy Spencer reviewed gene: GBE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease due to glycogen branching enzyme deficiency MONDO:0009292; Mode of inheritance: None
Mendeliome v1.3630 GATA6 Lucy Spencer Phenotypes for gene: GATA6 were changed from Pancreatic agenesis and congenital heart defects, 600001; Atrial septal defect 9, 614475; Atrioventricular septal defect 5, 614474; Tetralogy of Fallot, 187500; Persistent truncus arteriosus, 217095 to GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes MONDO:0100540; Pancreatic agenesis and congenital heart defects, 600001; Atrial septal defect 9, 614475; Atrioventricular septal defect 5, 614474; Tetralogy of Fallot, 187500; Persistent truncus arteriosus, 217095
Mendeliome v1.3629 GATA6 Lucy Spencer reviewed gene: GATA6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes MONDO:0100540; Mode of inheritance: None
Mendeliome v1.3629 GATA4 Lucy Spencer Phenotypes for gene: GATA4 were changed from Atrial septal defect 2 MIM#607941; Atrioventricular septal defect 4 MIM#614430; Ventricular septal defect 1 MIM#614429 to Structural congenital heart disease, multiple types - GATA4 MONDO:0100009; Atrial septal defect 2 MIM#607941; Atrioventricular septal defect 4 MIM#614430; Ventricular septal defect 1 MIM#614429
Mendeliome v1.3628 GATA4 Lucy Spencer reviewed gene: GATA4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Structural congenital heart disease, multiple types - GATA4 MONDO:0100009; Mode of inheritance: None
Mendeliome v1.3628 GATA2 Lucy Spencer reviewed gene: GATA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: GATA2 deficiency with susceptibility to MDS/AML MONDO:0042982; Mode of inheritance: None
Mendeliome v1.3628 GAD1 Lucy Spencer Phenotypes for gene: GAD1 were changed from Cerebral palsy, spastic quadriplegic, 1, MIM#603513; Developmental and epileptic encephalopathy 89, MIM# 619124 to Developmental and epileptic encephalopathy 89, MIM# 619124
Mendeliome v1.3627 GAD1 Lucy Spencer commented on gene: GAD1
Brain Calcification v1.100 WDR45 Zornitza Stark Marked gene: WDR45 as ready
Brain Calcification v1.100 WDR45 Zornitza Stark Gene: wdr45 has been classified as Amber List (Moderate Evidence).
Brain Calcification v1.100 WDR45 Zornitza Stark reviewed gene: WDR45: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Brain Calcification v1.100 PSMG2 Zornitza Stark Marked gene: PSMG2 as ready
Brain Calcification v1.100 PSMG2 Zornitza Stark Gene: psmg2 has been classified as Red List (Low Evidence).
Brain Calcification v1.100 C1QB Zornitza Stark Marked gene: C1QB as ready
Brain Calcification v1.100 C1QB Zornitza Stark Gene: c1qb has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.110 ALDH4A1 Sinead OSullivan gene: ALDH4A1 was added
gene: ALDH4A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Literature
Mode of inheritance for gene: ALDH4A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH4A1 were set to 9700195 34037900 31884946
Review for gene: ALDH4A1 was set to GREEN
Added comment: At least 5 unrelated families reported, clinical features are predominantly ID and seizures.
Sources: Literature
Brain Calcification v1.100 RRP12 Zornitza Stark Marked gene: RRP12 as ready
Brain Calcification v1.100 RRP12 Zornitza Stark Gene: rrp12 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v1.433 CACNA1A Zornitza Stark Publications for gene: CACNA1A were set to 27476654; 33985586
Intellectual disability syndromic and non-syndromic v1.432 CACNA1A Zornitza Stark Mode of inheritance for gene: CACNA1A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v1.431 Zornitza Stark Added reviews for gene CACNA1A from panel Genetic Epilepsy
Genetic Epilepsy v1.279 CACNA1A Zornitza Stark Phenotypes for gene: CACNA1A were changed from Developmental and epileptic encephalopathy 42, MIM# 617106 to Developmental and epileptic encephalopathy 42, MIM# 617106; Episodic ataxia, type 2 MIM#108500
Mendeliome v1.3627 CACNA1A Zornitza Stark Mode of inheritance for gene: CACNA1A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.3626 CACNA1A Zornitza Stark reviewed gene: CACNA1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27476654, 36063114; Phenotypes: Developmental and epileptic encephalopathy 42, MIM# 617106; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v1.278 CACNA1A Zornitza Stark Mode of inheritance for gene: CACNA1A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v1.277 CACNA1A Zornitza Stark edited their review of gene: CACNA1A: Added comment: PMID 36063114: further evidence for bi-alleic association. Summarises 10 individuals from 5 families.; Changed publications: 27476654, 36063114
Progressive Myoclonic Epilepsy v0.28 CLN3 Zornitza Stark Marked gene: CLN3 as ready
Progressive Myoclonic Epilepsy v0.28 CLN3 Zornitza Stark Gene: cln3 has been classified as Green List (High Evidence).
Progressive Myoclonic Epilepsy v0.28 CLN3 Zornitza Stark Phenotypes for gene: CLN3 were changed from Ceroid lipofuscinosis, neuronal, 3 204200 to Ceroid lipofuscinosis, neuronal, 3 MIM#204200
Progressive Myoclonic Epilepsy v0.27 CLN3 Zornitza Stark Publications for gene: CLN3 were set to
Progressive Myoclonic Epilepsy v0.26 CLN3 Zornitza Stark reviewed gene: CLN3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 3 MIM#204200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Progressive Myoclonic Epilepsy v0.26 CLN5 Zornitza Stark Marked gene: CLN5 as ready
Progressive Myoclonic Epilepsy v0.26 CLN5 Zornitza Stark Gene: cln5 has been classified as Green List (High Evidence).
Progressive Myoclonic Epilepsy v0.26 CLN5 Zornitza Stark Publications for gene: CLN5 were set to
Progressive Myoclonic Epilepsy v0.25 CLN5 Zornitza Stark reviewed gene: CLN5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 5, MIM# 256731; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Progressive Myoclonic Epilepsy v0.25 CLN6 Zornitza Stark Marked gene: CLN6 as ready
Progressive Myoclonic Epilepsy v0.25 CLN6 Zornitza Stark Gene: cln6 has been classified as Green List (High Evidence).
Progressive Myoclonic Epilepsy v0.25 CLN6 Zornitza Stark Publications for gene: CLN6 were set to
Progressive Myoclonic Epilepsy v0.24 CLN6 Zornitza Stark reviewed gene: CLN6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, Kufs type, adult onset MIM#204300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Progressive Myoclonic Epilepsy v0.24 CLN8 Zornitza Stark Marked gene: CLN8 as ready
Progressive Myoclonic Epilepsy v0.24 CLN8 Zornitza Stark Gene: cln8 has been classified as Green List (High Evidence).
Progressive Myoclonic Epilepsy v0.24 CLN8 Zornitza Stark Publications for gene: CLN8 were set to
Progressive Myoclonic Epilepsy v0.23 CLN8 Zornitza Stark reviewed gene: CLN8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 8, MIM# 600143 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Progressive Myoclonic Epilepsy v0.23 EPM2A Zornitza Stark Marked gene: EPM2A as ready
Progressive Myoclonic Epilepsy v0.23 EPM2A Zornitza Stark Gene: epm2a has been classified as Green List (High Evidence).
Progressive Myoclonic Epilepsy v0.23 EPM2A Zornitza Stark Publications for gene: EPM2A were set to
Progressive Myoclonic Epilepsy v0.22 EPM2A Zornitza Stark reviewed gene: EPM2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 2A (Lafora) MIM#254780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Macrocystic Disease v0.100 HNF1B Zornitza Stark commented on gene: HNF1B: LoF is the established mechanism of disease.
Renal Macrocystic Disease v0.100 HNF1B Zornitza Stark Marked gene: HNF1B as ready
Renal Macrocystic Disease v0.100 HNF1B Zornitza Stark Gene: hnf1b has been classified as Green List (High Evidence).
Renal Macrocystic Disease v0.100 HNF1B Zornitza Stark Phenotypes for gene: HNF1B were changed from to Renal cysts and diabetes syndrome, MIM# 137920
Renal Macrocystic Disease v0.99 HNF1B Zornitza Stark Publications for gene: HNF1B were set to
Renal Macrocystic Disease v0.98 HNF1B Zornitza Stark Mode of inheritance for gene: HNF1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Renal Macrocystic Disease v0.97 HNF1B Zornitza Stark Tag SV/CNV tag was added to gene: HNF1B.
Renal Macrocystic Disease v0.97 HNF1B Zornitza Stark reviewed gene: HNF1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal cysts and diabetes syndrome, MIM# 137920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Renal Macrocystic Disease v0.97 MUC1 Zornitza Stark Marked gene: MUC1 as ready
Renal Macrocystic Disease v0.97 MUC1 Zornitza Stark Gene: muc1 has been classified as Green List (High Evidence).
Renal Macrocystic Disease v0.97 MUC1 Zornitza Stark Phenotypes for gene: MUC1 were changed from to Medullary cystic kidney disease 1 (MIM#174000)
Renal Macrocystic Disease v0.96 MUC1 Zornitza Stark Publications for gene: MUC1 were set to
Renal Macrocystic Disease v0.95 MUC1 Zornitza Stark Mode of inheritance for gene: MUC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Renal Macrocystic Disease v0.94 MUC1 Zornitza Stark Tag VNTR tag was added to gene: MUC1.
Renal Macrocystic Disease v0.94 MUC1 Zornitza Stark reviewed gene: MUC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Medullary cystic kidney disease 1 (MIM#174000); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Renal Macrocystic Disease v0.94 UMOD Zornitza Stark Marked gene: UMOD as ready
Renal Macrocystic Disease v0.94 UMOD Zornitza Stark Gene: umod has been classified as Green List (High Evidence).
Renal Macrocystic Disease v0.94 UMOD Zornitza Stark Phenotypes for gene: UMOD were changed from to Tubulointerstitial kidney disease, autosomal dominant, 1, MIM# 162000
Renal Macrocystic Disease v0.93 UMOD Zornitza Stark Publications for gene: UMOD were set to
Renal Macrocystic Disease v0.92 UMOD Zornitza Stark Mode of inheritance for gene: UMOD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Renal Macrocystic Disease v0.91 UMOD Zornitza Stark reviewed gene: UMOD: Rating: GREEN; Mode of pathogenicity: None; Publications: 40533238; Phenotypes: Tubulointerstitial kidney disease, autosomal dominant, 1, MIM# 162000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v1.430 EXOSC10 Zornitza Stark Marked gene: EXOSC10 as ready
Intellectual disability syndromic and non-syndromic v1.430 EXOSC10 Zornitza Stark Gene: exosc10 has been classified as Amber List (Moderate Evidence).
Microcephaly v1.361 EXOSC10 Zornitza Stark Marked gene: EXOSC10 as ready
Microcephaly v1.361 EXOSC10 Zornitza Stark Gene: exosc10 has been classified as Amber List (Moderate Evidence).
Microcephaly v1.361 Zornitza Stark Copied gene EXOSC10 from panel Mendeliome
Microcephaly v1.361 EXOSC10 Zornitza Stark gene: EXOSC10 was added
gene: EXOSC10 was added to Microcephaly. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: EXOSC10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EXOSC10 were set to 41132091
Phenotypes for gene: EXOSC10 were set to Microcephaly, MONDO:0001149, EXOSC10-related
Intellectual disability syndromic and non-syndromic v1.430 Zornitza Stark Copied gene EXOSC10 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.430 EXOSC10 Zornitza Stark gene: EXOSC10 was added
gene: EXOSC10 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: EXOSC10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EXOSC10 were set to 41132091
Phenotypes for gene: EXOSC10 were set to Microcephaly, MONDO:0001149, EXOSC10-related
Mendeliome v1.3626 EXOSC10 Zornitza Stark Marked gene: EXOSC10 as ready
Mendeliome v1.3626 EXOSC10 Zornitza Stark Gene: exosc10 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3626 EXOSC10 Zornitza Stark Classified gene: EXOSC10 as Amber List (moderate evidence)
Mendeliome v1.3626 EXOSC10 Zornitza Stark Gene: exosc10 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.632 DNM2 Zornitza Stark Marked gene: DNM2 as ready
Arthrogryposis v0.632 DNM2 Zornitza Stark Gene: dnm2 has been classified as Red List (Low Evidence).
Arthrogryposis v0.632 DNM2 Zornitza Stark Publications for gene: DNM2 were set to
Arthrogryposis v0.631 DNM2 Zornitza Stark Mode of inheritance for gene: DNM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.630 KIF21A Zornitza Stark Marked gene: KIF21A as ready
Arthrogryposis v0.630 KIF21A Zornitza Stark Gene: kif21a has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.630 TRPV4 Zornitza Stark Marked gene: TRPV4 as ready
Arthrogryposis v0.630 TRPV4 Zornitza Stark Gene: trpv4 has been classified as Green List (High Evidence).
Arthrogryposis v0.630 TRPV4 Zornitza Stark Phenotypes for gene: TRPV4 were changed from to Neuronopathy, distal hereditary motor, autosomal dominant 8, MIM# 600175
Arthrogryposis v0.629 TRPV4 Zornitza Stark Mode of inheritance for gene: TRPV4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arthrogryposis v0.628 TRPV4 Zornitza Stark reviewed gene: TRPV4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuronopathy, distal hereditary motor, autosomal dominant 8, MIM# 600175; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arthrogryposis v0.628 TPM3 Zornitza Stark Marked gene: TPM3 as ready
Arthrogryposis v0.628 TPM3 Zornitza Stark Gene: tpm3 has been classified as Green List (High Evidence).
Arthrogryposis v0.628 TPM3 Zornitza Stark Phenotypes for gene: TPM3 were changed from to Congenital myopathy 4B, autosomal recessive, MIM# 609284
Arthrogryposis v0.627 TPM3 Zornitza Stark Mode of inheritance for gene: TPM3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.626 TPM3 Zornitza Stark reviewed gene: TPM3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital myopathy 4B, autosomal recessive, MIM# 609284; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.626 TGFB3 Zornitza Stark Marked gene: TGFB3 as ready
Arthrogryposis v0.626 TGFB3 Zornitza Stark Gene: tgfb3 has been classified as Green List (High Evidence).
Arthrogryposis v0.626 TGFB3 Zornitza Stark Phenotypes for gene: TGFB3 were changed from to Loeys-Dietz syndrome 5, MI# 615582
Arthrogryposis v0.625 TGFB3 Zornitza Stark Publications for gene: TGFB3 were set to
Arthrogryposis v0.624 TGFB3 Zornitza Stark Mode of inheritance for gene: TGFB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arthrogryposis v0.623 TGFB3 Zornitza Stark reviewed gene: TGFB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23824657; Phenotypes: Loeys-Dietz syndrome 5, MI# 615582; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Aortopathy_Connective Tissue Disorders v1.101 TGFBR1 Zornitza Stark Mode of inheritance for gene: TGFBR1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arthrogryposis v0.623 TGFBR2 Zornitza Stark Marked gene: TGFBR2 as ready
Arthrogryposis v0.623 TGFBR2 Zornitza Stark Gene: tgfbr2 has been classified as Green List (High Evidence).
Arthrogryposis v0.623 TGFBR2 Zornitza Stark Phenotypes for gene: TGFBR2 were changed from to Loeys-Dietz syndrome 2, MIM# 610168
Arthrogryposis v0.622 TGFBR2 Zornitza Stark Publications for gene: TGFBR2 were set to
Arthrogryposis v0.621 TGFBR2 Zornitza Stark Mode of inheritance for gene: TGFBR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arthrogryposis v0.620 TGFBR2 Zornitza Stark reviewed gene: TGFBR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28163941; Phenotypes: Loeys-Dietz syndrome 2, MIM# 610168; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arthrogryposis v0.620 TGFBR1 Zornitza Stark Marked gene: TGFBR1 as ready
Arthrogryposis v0.620 TGFBR1 Zornitza Stark Gene: tgfbr1 has been classified as Green List (High Evidence).
Arthrogryposis v0.620 TGFBR1 Zornitza Stark Phenotypes for gene: TGFBR1 were changed from to Loeys-Dietz syndrome 1, MIM# 609192
Arthrogryposis v0.619 TGFBR1 Zornitza Stark Publications for gene: TGFBR1 were set to
Arthrogryposis v0.618 TGFBR1 Zornitza Stark Mode of inheritance for gene: TGFBR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arthrogryposis v0.617 TGFBR1 Zornitza Stark reviewed gene: TGFBR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35668506; Phenotypes: Loeys-Dietz syndrome 1, MIM# 609192; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arthrogryposis v0.617 SELENON Zornitza Stark Marked gene: SELENON as ready
Arthrogryposis v0.617 SELENON Zornitza Stark Gene: selenon has been classified as Green List (High Evidence).
Arthrogryposis v0.617 SELENON Zornitza Stark Phenotypes for gene: SELENON were changed from to Congenital myopathy 3 with rigid spine, MIM# 602771
Arthrogryposis v0.616 SELENON Zornitza Stark Publications for gene: SELENON were set to
Arthrogryposis v0.615 SELENON Zornitza Stark reviewed gene: SELENON: Rating: GREEN; Mode of pathogenicity: None; Publications: 30642275; Phenotypes: Congenital myopathy 3 with rigid spine, MIM# 602771; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa v0.220 Bryony Thompson Added reviews for gene RDH12 from panel Retinitis pigmentosa_Autosomal Dominant
Retinitis pigmentosa v0.219 Bryony Thompson Added reviews for gene NR2E3 from panel Retinitis pigmentosa_Autosomal Dominant
Retinitis pigmentosa v0.218 PDE6B Bryony Thompson Mode of inheritance for gene: PDE6B was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Retinitis pigmentosa v0.217 NRL Bryony Thompson Publications for gene: NRL were set to 39766861; 36140584; 35693422
Retinitis pigmentosa v0.216 NRL Bryony Thompson Mode of inheritance for gene: NRL was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: ICoNS v0.16 MYH7 François BOEMER edited their review of gene: MYH7: Added comment: The natural history of MYH7-related cardiomyopathies shows considerable variation in age of onset. In the 2022 paper by de Frutos et al., only 9 of 115 reported cases developed symptoms before 10 years of age. Moreover, substantial phenotypic heterogeneity can occur among affected members of the same family.
Consequently, within the BabyDetect project, the reporting criteria for MYH7 variants are restricted to cases in which two variants are identified—either in a homozygous state or as possible compound heterozygotes.; Set current diagnostic: yes
Retinitis pigmentosa v0.215 Bryony Thompson Panel name changed from Retinitis pigmentosa_Autosomal Recessive/X-linked to Retinitis pigmentosa
Retinitis pigmentosa v0.214 Bryony Thompson Copied gene SPP2 from panel Retinitis pigmentosa_Autosomal Dominant
Retinitis pigmentosa v0.214 SPP2 Bryony Thompson gene: SPP2 was added
gene: SPP2 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: SPP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SPP2 were set to 26459573
Phenotypes for gene: SPP2 were set to Autosomal dominant retinitis pigmentosa
Mendeliome v1.3625 Bryony Thompson Copied gene SPP2 from panel Retinitis pigmentosa_Autosomal Dominant
Mendeliome v1.3625 SPP2 Bryony Thompson gene: SPP2 was added
gene: SPP2 was added to Mendeliome. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: SPP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SPP2 were set to 26459573
Phenotypes for gene: SPP2 were set to Autosomal dominant retinitis pigmentosa
Retinitis pigmentosa v0.213 Bryony Thompson Added reviews for gene SEMA4A from panel Retinitis pigmentosa_Autosomal Dominant
Retinitis pigmentosa v0.212 Bryony Thompson Added reviews for gene SAG from panel Retinitis pigmentosa_Autosomal Dominant
Genomic newborn screening: ICoNS v0.16 MYH7 François BOEMER gene: MYH7 was added
gene: MYH7 was added to Genomic newborn screening: ICoNS. Sources: Expert Review
Mode of inheritance for gene: MYH7 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MYH7 were set to doi.org/10.1016/j.jacc.2022.07.023; doi.org/10.1038/gim.2017.218
Phenotypes for gene: MYH7 were set to Cardiomyopathy, dilated, 1S; Cardiomyopathy, hypertrophic, 1; Congenital myopathy 7A, myosin storage, autosomal dominant; Congenital myopathy 7B, myosin storage, autosomal recessive; Laing distal myopathy; Left ventricular noncompaction 5
Penetrance for gene: MYH7 were set to Complete
Mode of pathogenicity for gene: MYH7 was set to Other
Review for gene: MYH7 was set to GREEN
Added comment: Sources: Expert Review
Retinitis pigmentosa v0.211 Bryony Thompson Copied gene RP9 from panel Retinitis pigmentosa_Autosomal Dominant
Retinitis pigmentosa v0.211 RP9 Bryony Thompson gene: RP9 was added
gene: RP9 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: RP9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RP9 were set to 16799052; 16671097
Phenotypes for gene: RP9 were set to Retinitis pigmentosa 9, 180104
Retinitis pigmentosa v0.210 Bryony Thompson Copied gene PRKCG from panel Retinitis pigmentosa_Autosomal Dominant
Retinitis pigmentosa v0.210 PRKCG Bryony Thompson gene: PRKCG was added
gene: PRKCG was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert list
Mode of inheritance for gene: PRKCG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRKCG were set to 9545390; 16828200
Phenotypes for gene: PRKCG were set to Retinitis pigmentosa 11 MIM#600138
Retinitis pigmentosa v0.209 Bryony Thompson Copied gene PITPNM3 from panel Retinitis pigmentosa_Autosomal Dominant
Retinitis pigmentosa v0.209 PITPNM3 Bryony Thompson gene: PITPNM3 was added
gene: PITPNM3 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: PITPNM3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PITPNM3 were set to 22405330; 17377520
Phenotypes for gene: PITPNM3 were set to Cone-rod dystrophy 5, 600977
Retinitis pigmentosa v0.208 Bryony Thompson Copied gene FSCN2 from panel Retinitis pigmentosa_Autosomal Dominant
Retinitis pigmentosa v0.208 FSCN2 Bryony Thompson gene: FSCN2 was added
gene: FSCN2 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review Red,Royal Melbourne Hospital,Royal Melbourne Hospital
Mode of inheritance for gene: FSCN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FSCN2 were set to 16043865; 18450588
Phenotypes for gene: FSCN2 were set to Retinitis pigmentosa 30 MIM#607921; Macular degeneration
Retinitis pigmentosa v0.207 Bryony Thompson Copied gene CA4 from panel Retinitis pigmentosa_Autosomal Dominant
Retinitis pigmentosa v0.207 CA4 Bryony Thompson gene: CA4 was added
gene: CA4 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review Red,Royal Melbourne Hospital
disputed tags were added to gene: CA4.
Mode of inheritance for gene: CA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CA4 were set to 15563508; 15090652; 17652713; 16260723
Phenotypes for gene: CA4 were set to Retinitis pigmentosa 17, 600852
Retinitis pigmentosa v0.206 Bryony Thompson Copied gene PRPF6 from panel Retinitis pigmentosa_Autosomal Dominant
Retinitis pigmentosa v0.206 PRPF6 Bryony Thompson gene: PRPF6 was added
gene: PRPF6 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: PRPF6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRPF6 were set to 21549338; 32335390
Phenotypes for gene: PRPF6 were set to Retinitis pigmentosa 60, MIM# 613983
Retinitis pigmentosa v0.205 Bryony Thompson Copied gene GUCA1B from panel Retinitis pigmentosa_Autosomal Dominant
Retinitis pigmentosa v0.205 GUCA1B Bryony Thompson gene: GUCA1B was added
gene: GUCA1B was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review Amber,Royal Melbourne Hospital
founder tags were added to gene: GUCA1B.
Mode of inheritance for gene: GUCA1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GUCA1B were set to 15452722; 26161267
Phenotypes for gene: GUCA1B were set to Retinitis pigmentosa 48, MIM#613827
Retinitis pigmentosa v0.204 Bryony Thompson Copied gene ARL3 from panel Retinitis pigmentosa_Autosomal Dominant
Retinitis pigmentosa v0.204 ARL3 Bryony Thompson gene: ARL3 was added
gene: ARL3 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: ARL3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ARL3 were set to 26936825; 16565502; 26964041; 26814127; 30932721; 30269812
Phenotypes for gene: ARL3 were set to Retinitis pigmentosa 83; Joubert syndrome 35
Retinitis pigmentosa v0.203 Bryony Thompson Copied gene ACTG1 from panel Retinitis pigmentosa_Autosomal Dominant
Retinitis pigmentosa v0.203 ACTG1 Bryony Thompson gene: ACTG1 was added
gene: ACTG1 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: ACTG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACTG1 were set to PMID: 28000701, PMID 34448047, PMID 39734360
Phenotypes for gene: ACTG1 were set to Retinitis pigmentosa MONDO:0019200, ACTG1-related
Mode of pathogenicity for gene: ACTG1 was set to Other
Retinitis pigmentosa v0.202 Bryony Thompson Copied gene VWA8 from panel Retinitis pigmentosa_Autosomal Dominant
Retinitis pigmentosa v0.202 VWA8 Bryony Thompson gene: VWA8 was added
gene: VWA8 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review Green,Literature
Mode of inheritance for gene: VWA8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VWA8 were set to 37012052; 40638000
Phenotypes for gene: VWA8 were set to Retinitis pigmentosa 97, MIM#620422
Retinitis pigmentosa v0.201 Bryony Thompson Copied gene TOPORS from panel Retinitis pigmentosa_Autosomal Dominant
Retinitis pigmentosa v0.201 TOPORS Bryony Thompson gene: TOPORS was added
gene: TOPORS was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TOPORS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TOPORS were set to 17924349; 28041643; 18509552; 24938718; 31736247; 28224992; 19183411; 19373681; 28453362; 33576794; 33691693
Phenotypes for gene: TOPORS were set to Retinitis pigmentosa 31, MIM#609923; TOPORS-related retinopathy MONDO:0700233
Retinitis pigmentosa v0.200 Bryony Thompson Copied gene SNRNP200 from panel Retinitis pigmentosa_Autosomal Dominant
Retinitis pigmentosa v0.200 SNRNP200 Bryony Thompson gene: SNRNP200 was added
gene: SNRNP200 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SNRNP200 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SNRNP200 were set to 23029027; 26720483; 21618346; 33553197; 33090715; 33598457
Phenotypes for gene: SNRNP200 were set to Retinitis pigmentosa 33, MIM#610359; SNRNP200-related dominant retinopathy MONDO:0800098
Retinitis pigmentosa v0.199 Bryony Thompson Added reviews for gene RPE65 from panel Retinitis pigmentosa_Autosomal Dominant
Retinitis pigmentosa v0.198 Bryony Thompson Added reviews for gene RP1 from panel Retinitis pigmentosa_Autosomal Dominant
Retinitis pigmentosa v0.197 Bryony Thompson Copied gene ROM1 from panel Retinitis pigmentosa_Autosomal Dominant
Retinitis pigmentosa v0.197 ROM1 Bryony Thompson gene: ROM1 was added
gene: ROM1 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ROM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ROM1 were set to 32036094; 8202715; 30630813; 24618324; 20300562; 32716032
Phenotypes for gene: ROM1 were set to Retinitis pigmentosa 7, digenic, 608133
Retinitis pigmentosa v0.196 Bryony Thompson Added reviews for gene RDH12 from panel Retinitis pigmentosa_Autosomal Dominant
Retinitis pigmentosa v0.195 Bryony Thompson Copied gene PRPF8 from panel Retinitis pigmentosa_Autosomal Dominant
Retinitis pigmentosa v0.195 PRPF8 Bryony Thompson gene: PRPF8 was added
gene: PRPF8 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PRPF8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PRPF8 were set to 17061239; 11910553; 11468273; 20301590
Phenotypes for gene: PRPF8 were set to Retinitis pigmentosa 13, MIM#600059; PRPF8-related retinopathy MONDO:0700234
Retinitis pigmentosa v0.194 Bryony Thompson Copied gene PRPF4 from panel Retinitis pigmentosa_Autosomal Dominant
Retinitis pigmentosa v0.194 PRPF4 Bryony Thompson gene: PRPF4 was added
gene: PRPF4 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PRPF4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRPF4 were set to 24419317; 25383878
Phenotypes for gene: PRPF4 were set to Retinitis pigmentosa 70, MIM# 615922
Retinitis pigmentosa v0.193 Bryony Thompson Copied gene PRPF31 from panel Retinitis pigmentosa_Autosomal Dominant
Retinitis pigmentosa v0.193 PRPF31 Bryony Thompson gene: PRPF31 was added
gene: PRPF31 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review Green,Royal Melbourne Hospital
SV/CNV tags were added to gene: PRPF31.
Mode of inheritance for gene: PRPF31 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRPF31 were set to 32014492
Phenotypes for gene: PRPF31 were set to Retinitis pigmentosa 11, 600138
Retinitis pigmentosa v0.192 Bryony Thompson Copied gene PRPF3 from panel Retinitis pigmentosa_Autosomal Dominant
Retinitis pigmentosa v0.192 PRPF3 Bryony Thompson gene: PRPF3 was added
gene: PRPF3 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PRPF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRPF3 were set to 11773002; 27886254
Phenotypes for gene: PRPF3 were set to Retinitis pigmentosa 18, MIM# 601414
Retinitis pigmentosa v0.191 Bryony Thompson Added reviews for gene PDE6B from panel Retinitis pigmentosa_Autosomal Dominant
Retinitis pigmentosa v0.190 Bryony Thompson Added reviews for gene NRL from panel Retinitis pigmentosa_Autosomal Dominant
Retinitis pigmentosa v0.189 Bryony Thompson Added reviews for gene NR2E3 from panel Retinitis pigmentosa_Autosomal Dominant
Retinitis pigmentosa v0.188 Bryony Thompson Copied gene KLHL7 from panel Retinitis pigmentosa_Autosomal Dominant
Retinitis pigmentosa v0.188 KLHL7 Bryony Thompson gene: KLHL7 was added
gene: KLHL7 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KLHL7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KLHL7 were set to Retinitis pigmentosa 42, 612943
Retinitis pigmentosa v0.187 Bryony Thompson Added reviews for gene IMPG1 from panel Retinitis pigmentosa_Autosomal Dominant
Retinitis pigmentosa v0.186 Bryony Thompson Copied gene IMPDH1 from panel Retinitis pigmentosa_Autosomal Dominant
Retinitis pigmentosa v0.186 IMPDH1 Bryony Thompson gene: IMPDH1 was added
gene: IMPDH1 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: IMPDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IMPDH1 were set to 16384941
Phenotypes for gene: IMPDH1 were set to Retinitis pigmentosa 10, 180105; Leber Congenital Amaurosis; Leber congenital amaurosis 11
Retinitis pigmentosa v0.185 Bryony Thompson Copied gene HK1 from panel Retinitis pigmentosa_Autosomal Dominant
Retinitis pigmentosa v0.185 HK1 Bryony Thompson gene: HK1 was added
gene: HK1 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: HK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HK1 were set to 25316723; 25190649; 31621442; 32814480
Phenotypes for gene: HK1 were set to Retinitis pigmentosa 79, MIM# 617460
Retinitis pigmentosa v0.184 Bryony Thompson Copied gene CRX from panel Retinitis pigmentosa_Autosomal Dominant
Retinitis pigmentosa v0.184 CRX Bryony Thompson gene: CRX was added
gene: CRX was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CRX was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CRX were set to Cone-rod retinal dystrophy-2, 120970; Leber congenital amaurosis 7, 613829
Mendeliome v1.3624 Bryony Thompson Added reviews for gene CRB1 from panel Retinitis pigmentosa_Autosomal Dominant
Retinitis pigmentosa v0.183 Bryony Thompson Copied gene C1QTNF5 from panel Retinitis pigmentosa_Autosomal Dominant
Retinitis pigmentosa v0.183 C1QTNF5 Bryony Thompson gene: C1QTNF5 was added
gene: C1QTNF5 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: C1QTNF5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: C1QTNF5 were set to 33949280; 12944416; 30451557; 28939808; 32036094
Phenotypes for gene: C1QTNF5 were set to Retinal degeneration, late-onset, autosomal dominant MIM#605670
Mode of pathogenicity for gene: C1QTNF5 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Arthrogryposis v0.615 TGFB2 Zornitza Stark Marked gene: TGFB2 as ready
Arthrogryposis v0.615 TGFB2 Zornitza Stark Gene: tgfb2 has been classified as Green List (High Evidence).
Arthrogryposis v0.615 TGFB2 Zornitza Stark Phenotypes for gene: TGFB2 were changed from to Loeys-Dietz syndrome 4, MIM# 614816
Arthrogryposis v0.614 TGFB2 Zornitza Stark Mode of inheritance for gene: TGFB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arthrogryposis v0.613 TGFB2 Zornitza Stark reviewed gene: TGFB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 4, MIM# 614816; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arthrogryposis v0.613 SMAD4 Zornitza Stark Marked gene: SMAD4 as ready
Arthrogryposis v0.613 SMAD4 Zornitza Stark Gene: smad4 has been classified as Green List (High Evidence).
Arthrogryposis v0.613 SMAD4 Zornitza Stark Phenotypes for gene: SMAD4 were changed from to Myhre syndrome, MIM# 139210
Arthrogryposis v0.612 SMAD4 Zornitza Stark Mode of inheritance for gene: SMAD4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arthrogryposis v0.611 SMAD4 Zornitza Stark reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myhre syndrome, MIM# 139210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arthrogryposis v0.611 SMAD3 Zornitza Stark Marked gene: SMAD3 as ready
Arthrogryposis v0.611 SMAD3 Zornitza Stark Gene: smad3 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.611 SMAD3 Zornitza Stark Phenotypes for gene: SMAD3 were changed from to Loeys-Dietz syndrome 3, MIM# 613795
Arthrogryposis v0.610 SMAD3 Zornitza Stark Mode of inheritance for gene: SMAD3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arthrogryposis v0.609 SMAD3 Zornitza Stark Classified gene: SMAD3 as Amber List (moderate evidence)
Arthrogryposis v0.609 SMAD3 Zornitza Stark Gene: smad3 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.608 SMAD3 Zornitza Stark reviewed gene: SMAD3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 3, MIM# 613795; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arthrogryposis v0.608 SKI Zornitza Stark Marked gene: SKI as ready
Arthrogryposis v0.608 SKI Zornitza Stark Gene: ski has been classified as Green List (High Evidence).
Arthrogryposis v0.608 SKI Zornitza Stark Phenotypes for gene: SKI were changed from to Shprintzen-Goldberg syndrome, MIM# 182212
Arthrogryposis v0.607 SKI Zornitza Stark Publications for gene: SKI were set to
Arthrogryposis v0.606 SKI Zornitza Stark Mode of inheritance for gene: SKI was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arthrogryposis v0.605 SKI Zornitza Stark reviewed gene: SKI: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301454; Phenotypes: Shprintzen-Goldberg syndrome, MIM# 182212; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.3623 PCSK5 Chirag Patel Marked gene: PCSK5 as ready
Mendeliome v1.3623 PCSK5 Chirag Patel Gene: pcsk5 has been classified as Red List (Low Evidence).
Mendeliome v1.3623 Chirag Patel Copied gene PCSK5 from panel Congenital Heart Defect
Mendeliome v1.3623 PCSK5 Chirag Patel gene: PCSK5 was added
gene: PCSK5 was added to Mendeliome. Sources: Expert Review Red,ClinGen
disputed tags were added to gene: PCSK5.
Mode of inheritance for gene: PCSK5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PCSK5 were set to Syndromic congenital heart disease, MONDO:0100614
Congenital Heart Defect v0.479 PCSK5 Chirag Patel Marked gene: PCSK5 as ready
Congenital Heart Defect v0.479 PCSK5 Chirag Patel Gene: pcsk5 has been classified as Red List (Low Evidence).
Congenital Heart Defect v0.479 PCSK5 Chirag Patel gene: PCSK5 was added
gene: PCSK5 was added to Congenital Heart Defect. Sources: ClinGen
disputed tags were added to gene: PCSK5.
Mode of inheritance for gene: PCSK5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PCSK5 were set to Syndromic congenital heart disease, MONDO:0100614
Review for gene: PCSK5 was set to RED
Added comment: ClinGen DISPUTED - Apr 2025
Sources: ClinGen
Arthrogryposis v0.605 RYR1 Zornitza Stark Marked gene: RYR1 as ready
Arthrogryposis v0.605 RYR1 Zornitza Stark Gene: ryr1 has been classified as Green List (High Evidence).
Arthrogryposis v0.605 RYR1 Zornitza Stark Phenotypes for gene: RYR1 were changed from to Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia, MIM# 117000; Congenital myopathy 1B, autosomal recessive, MIM# 255320
Arthrogryposis v0.604 RYR1 Zornitza Stark Publications for gene: RYR1 were set to
Arthrogryposis v0.603 RYR1 Zornitza Stark Mode of inheritance for gene: RYR1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Arthrogryposis v0.602 RYR1 Zornitza Stark changed review comment from: Established gene-disease association, contractures reported.; to: Established gene-disease association, contractures reported, including severe fetal akinesia sequence.
Mendeliome v1.3622 SCN2B Chirag Patel Marked gene: SCN2B as ready
Mendeliome v1.3622 SCN2B Chirag Patel Gene: scn2b has been classified as Red List (Low Evidence).
Mendeliome v1.3622 SCN2B Chirag Patel Marked gene: SCN2B as ready
Mendeliome v1.3622 SCN2B Chirag Patel Gene: scn2b has been classified as Red List (Low Evidence).
Arthrogryposis v0.602 RYR1 Zornitza Stark edited their review of gene: RYR1: Changed publications: 38520674; Changed phenotypes: Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia, MIM# 117000, Congenital myopathy 1B, autosomal recessive, MIM# 255320; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.3622 SLMAP Chirag Patel Marked gene: SLMAP as ready
Mendeliome v1.3622 SLMAP Chirag Patel Gene: slmap has been classified as Red List (Low Evidence).
Mendeliome v1.3622 Chirag Patel Copied gene SCN2B from panel Brugada syndrome
Mendeliome v1.3622 SCN2B Chirag Patel gene: SCN2B was added
gene: SCN2B was added to Mendeliome. Sources: Expert Review Red,ClinGen
disputed tags were added to gene: SCN2B.
Mode of inheritance for gene: SCN2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SCN2B were set to Brugada syndrome, MONDO:0015263
Brugada syndrome v0.44 SCN2B Chirag Patel Marked gene: SCN2B as ready
Brugada syndrome v0.44 SCN2B Chirag Patel Gene: scn2b has been classified as Red List (Low Evidence).
Mendeliome v1.3621 Chirag Patel Copied gene SLMAP from panel Brugada syndrome
Mendeliome v1.3621 SLMAP Chirag Patel gene: SLMAP was added
gene: SLMAP was added to Mendeliome. Sources: Expert Review Red,ClinGen
disputed tags were added to gene: SLMAP.
Mode of inheritance for gene: SLMAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLMAP were set to Brugada syndrome, MONDO:0015263
Brugada syndrome v0.44 TRPM4 Chirag Patel Marked gene: TRPM4 as ready
Brugada syndrome v0.44 TRPM4 Chirag Patel Gene: trpm4 has been classified as Red List (Low Evidence).
Brugada syndrome v0.44 SLMAP Chirag Patel Marked gene: SLMAP as ready
Brugada syndrome v0.44 SLMAP Chirag Patel Gene: slmap has been classified as Red List (Low Evidence).
Brugada syndrome v0.44 PKP2 Chirag Patel Marked gene: PKP2 as ready
Brugada syndrome v0.44 PKP2 Chirag Patel Gene: pkp2 has been classified as Red List (Low Evidence).
Arthrogryposis v0.602 RYR1 Zornitza Stark reviewed gene: RYR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia, MIM# 117000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.3620 KCNE5 Chirag Patel Tag disputed tag was added to gene: KCNE5.
Brugada syndrome v0.44 KCNE5 Chirag Patel Mode of inheritance for gene: KCNE5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Brugada syndrome v0.43 KCNE5 Chirag Patel Deleted their comment
Brugada syndrome v0.43 KCNE5 Chirag Patel edited their review of gene: KCNE5: Added comment: ClinGen DISPUTED - Nov 2017; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Arthrogryposis v0.602 POMT2 Zornitza Stark Marked gene: POMT2 as ready
Arthrogryposis v0.602 POMT2 Zornitza Stark Gene: pomt2 has been classified as Green List (High Evidence).
Arthrogryposis v0.602 POMT2 Zornitza Stark Phenotypes for gene: POMT2 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, MIM# 613150
Mendeliome v1.3620 KCNE5 Chirag Patel Phenotypes for gene: KCNE5 were changed from Atrial fibrillation to Atrial fibrillation; Brugada syndrome, MONDO:0015263
Arthrogryposis v0.601 POMT2 Zornitza Stark Publications for gene: POMT2 were set to
Mendeliome v1.3619 Chirag Patel Added reviews for gene KCNE5 from panel Brugada syndrome
Arthrogryposis v0.600 POMT2 Zornitza Stark Mode of inheritance for gene: POMT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.599 POMT2 Zornitza Stark reviewed gene: POMT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19138766; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, MIM# 613150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Brugada syndrome v0.43 KCNE5 Chirag Patel Marked gene: KCNE5 as ready
Brugada syndrome v0.43 KCNE5 Chirag Patel Gene: kcne5 has been classified as Red List (Low Evidence).
Brugada syndrome v0.43 HCN4 Chirag Patel Marked gene: HCN4 as ready
Brugada syndrome v0.43 HCN4 Chirag Patel Gene: hcn4 has been classified as Red List (Low Evidence).
Brugada syndrome v0.43 ANK2 Chirag Patel Marked gene: ANK2 as ready
Brugada syndrome v0.43 ANK2 Chirag Patel Gene: ank2 has been classified as Red List (Low Evidence).
Brugada syndrome v0.43 PKP2 Chirag Patel gene: PKP2 was added
gene: PKP2 was added to Brugada syndrome. Sources: ClinGen
disputed tags were added to gene: PKP2.
Mode of inheritance for gene: PKP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PKP2 were set to Brugada syndrome, MONDO:0015263
Review for gene: PKP2 was set to RED
Added comment: ClinGen DISPUTED - Nov 2017
Sources: ClinGen
Brugada syndrome v0.43 SLMAP Chirag Patel gene: SLMAP was added
gene: SLMAP was added to Brugada syndrome. Sources: ClinGen
disputed tags were added to gene: SLMAP.
Mode of inheritance for gene: SLMAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLMAP were set to Brugada syndrome, MONDO:0015263
Review for gene: SLMAP was set to RED
Added comment: ClinGen DISPUTED - Nov 2017
Sources: ClinGen
Brugada syndrome v0.43 SCN2B Chirag Patel gene: SCN2B was added
gene: SCN2B was added to Brugada syndrome. Sources: ClinGen
disputed tags were added to gene: SCN2B.
Mode of inheritance for gene: SCN2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SCN2B were set to Brugada syndrome, MONDO:0015263
Review for gene: SCN2B was set to RED
Added comment: ClinGen DISPUTED - Nov 2017
Sources: ClinGen
Brugada syndrome v0.43 TRPM4 Chirag Patel gene: TRPM4 was added
gene: TRPM4 was added to Brugada syndrome. Sources: ClinGen
disputed tags were added to gene: TRPM4.
Mode of inheritance for gene: TRPM4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TRPM4 were set to Brugada syndrome, MONDO:0015263
Review for gene: TRPM4 was set to RED
Added comment: ClinGen DISPUTED - Nov 2017
Sources: ClinGen
Brugada syndrome v0.42 KCNE5 Chirag Patel gene: KCNE5 was added
gene: KCNE5 was added to Brugada syndrome. Sources: ClinGen
disputed tags were added to gene: KCNE5.
Mode of inheritance for gene: KCNE5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNE5 were set to Brugada syndrome, MONDO:0015263
Review for gene: KCNE5 was set to RED
Added comment: ClinGen DISPUTED - Nov 2017
Sources: ClinGen
Brugada syndrome v0.42 HCN4 Chirag Patel gene: HCN4 was added
gene: HCN4 was added to Brugada syndrome. Sources: ClinGen
disputed tags were added to gene: HCN4.
Mode of inheritance for gene: HCN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HCN4 were set to Brugada syndrome, MONDO:0015263
Review for gene: HCN4 was set to RED
Added comment: ClinGen DISPUTED - Nov 2017
Sources: ClinGen
Brugada syndrome v0.42 ANK2 Chirag Patel gene: ANK2 was added
gene: ANK2 was added to Brugada syndrome. Sources: ClinGen
disputed tags were added to gene: ANK2.
Mode of inheritance for gene: ANK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ANK2 were set to Brugada syndrome, MONDO:0015263
Review for gene: ANK2 was set to RED
Added comment: ClinGen DISPUTED - Nov 2017
Sources: ClinGen
Brugada syndrome v0.41 KCNE3 Chirag Patel Phenotypes for gene: KCNE3 were changed from Brugada syndrome, MONDO:0015263 to Brugada syndrome, MONDO:0015263
Brugada syndrome v0.41 KCNE3 Chirag Patel Phenotypes for gene: KCNE3 were changed from Brugada syndrome, MONDO:0015263 to Brugada syndrome, MONDO:0015263
Brugada syndrome v0.41 KCNE3 Chirag Patel Phenotypes for gene: KCNE3 were changed from Brugada syndrome, MONDO:0015263 to Brugada syndrome, MONDO:0015263
Brugada syndrome v0.41 KCNE3 Chirag Patel Phenotypes for gene: KCNE3 were changed from Brugada syndrome, MONDO:0015263 to Brugada syndrome, MONDO:0015263
Brugada syndrome v0.41 KCNE3 Chirag Patel Phenotypes for gene: KCNE3 were changed from Brugada syndrome, MONDO:0015263 to Brugada syndrome, MONDO:0015263
Brugada syndrome v0.41 KCNE3 Chirag Patel Phenotypes for gene: KCNE3 were changed from Brugada syndrome, MONDO:0015263 to Brugada syndrome, MONDO:0015263
Brugada syndrome v0.40 KCNE3 Chirag Patel Phenotypes for gene: KCNE3 were changed from Brugada syndrome, MONDO:0015263 to Brugada syndrome, MONDO:0015263
Brugada syndrome v0.40 KCNE3 Chirag Patel Phenotypes for gene: KCNE3 were changed from Brugada syndrome, MONDO:0015263 to Brugada syndrome, MONDO:0015263
Brugada syndrome v0.40 KCNE3 Chirag Patel Phenotypes for gene: KCNE3 were changed from to Brugada syndrome, MONDO:0015263
Brugada syndrome v0.39 CACNA2D1 Chirag Patel Phenotypes for gene: CACNA2D1 were changed from to Brugada syndrome 1, MONDO:0011001
Brugada syndrome v0.38 KCNJ8 Chirag Patel Phenotypes for gene: KCNJ8 were changed from Brugada syndrome 1, MONDO:0011001 to Brugada syndrome 1, MONDO:0011001
Brugada syndrome v0.38 KCNJ8 Chirag Patel Phenotypes for gene: KCNJ8 were changed from Brugada syndrome to Brugada syndrome 1, MONDO:0011001
Brugada syndrome v0.37 SCN1B Chirag Patel Phenotypes for gene: SCN1B were changed from Brugada syndrome 1, MONDO:0011001 to Brugada syndrome 1, MONDO:0011001
Brugada syndrome v0.37 SCN1B Chirag Patel Phenotypes for gene: SCN1B were changed from to Brugada syndrome 1, MONDO:0011001
Mendeliome v1.3618 PLAT Chirag Patel Marked gene: PLAT as ready
Mendeliome v1.3618 PLAT Chirag Patel Gene: plat has been classified as Red List (Low Evidence).
Mendeliome v1.3618 TP53BP2 Chirag Patel Marked gene: TP53BP2 as ready
Mendeliome v1.3618 TP53BP2 Chirag Patel Gene: tp53bp2 has been classified as Red List (Low Evidence).
Mendeliome v1.3618 TP53BP2 Chirag Patel gene: TP53BP2 was added
gene: TP53BP2 was added to Mendeliome. Sources: ClinGen
disputed tags were added to gene: TP53BP2.
Mode of inheritance for gene: TP53BP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TP53BP2 were set to Open-angle glaucoma MONDO:0005338
Review for gene: TP53BP2 was set to RED
Added comment: ClinGen DISPUTED - May 2023
Sources: ClinGen
Mendeliome v1.3617 Chirag Patel Copied gene PLAT from panel Bleeding and Platelet Disorders
Mendeliome v1.3617 PLAT Chirag Patel gene: PLAT was added
gene: PLAT was added to Mendeliome. Sources: Expert Review Red,ClinGen
disputed tags were added to gene: PLAT.
Mode of inheritance for gene: PLAT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PLAT were set to Thrombophilia, familial, due to decreased release of tissue plasminogen activator MONDO:0012872
Bleeding and Platelet Disorders v1.63 PLAT Chirag Patel Marked gene: PLAT as ready
Bleeding and Platelet Disorders v1.63 PLAT Chirag Patel Gene: plat has been classified as Red List (Low Evidence).
Bleeding and Platelet Disorders v1.63 PLAT Chirag Patel gene: PLAT was added
gene: PLAT was added to Bleeding and Platelet Disorders. Sources: ClinGen
disputed tags were added to gene: PLAT.
Mode of inheritance for gene: PLAT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PLAT were set to Thrombophilia, familial, due to decreased release of tissue plasminogen activator MONDO:0012872
Review for gene: PLAT was set to RED
Added comment: ClinGen DISPUTED - Jun 2023
Sources: ClinGen
Oligodontia v0.32 MSX1 Chirag Patel Phenotypes for gene: MSX1 were changed from Tooth agenesis, selective, 1, MONDO:0007129 to Tooth agenesis, selective, 1, MONDO:0007129
Oligodontia v0.32 MSX1 Chirag Patel Phenotypes for gene: MSX1 were changed from Tooth agenesis, selective, 1, MONDO:0007129 to Tooth agenesis, selective, 1, MONDO:0007129
Oligodontia v0.32 MSX1 Chirag Patel Phenotypes for gene: MSX1 were changed from to Tooth agenesis, selective, 1, MONDO:0007129
Oligodontia v0.31 MSX1 Chirag Patel reviewed gene: MSX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tooth agenesis, selective, 1, MONDO:0007129; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Oligodontia v0.31 Chirag Patel Added reviews for gene MSX1 from panel Mendeliome
Ectodermal Dysplasia v0.103 Chirag Patel Added reviews for gene MSX1 from panel Mendeliome
Clefting disorders v0.282 Chirag Patel Added reviews for gene MSX1 from panel Mendeliome
Mendeliome v1.3616 ACADL Chirag Patel Phenotypes for gene: ACADL were changed from Hereditary pulmonary alveoral proteinosis, MONDO:0012580, ACADL-related to Long chain acyl-CoA dehydrogenase deficiency MONDO:0020531
Mendeliome v1.3615 Chirag Patel Added reviews for gene ACADL from panel Fatty Acid Oxidation Defects
Fatty Acid Oxidation Defects v1.15 ACADL Chirag Patel Phenotypes for gene: ACADL were changed from Pulmonary surfactant dysfunction to Long chain acyl-CoA dehydrogenase deficiency MONDO:0020531
Fatty Acid Oxidation Defects v1.14 ACADL Chirag Patel reviewed gene: ACADL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Long chain acyl-CoA dehydrogenase deficiency MONDO:0020531; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Metal Metabolism Disorders v0.52 STEAP3 Chirag Patel Phenotypes for gene: STEAP3 were changed from Anaemia, hypochromic microcytic, with iron overload 2 MIM# 615234 to Severe congenital hypochromic anemia with ringed sideroblasts, MONDO:0014094
Red cell disorders v1.38 STEAP3 Chirag Patel Phenotypes for gene: STEAP3 were changed from Anaemia, hypochromic microcytic, with iron overload 2 MIM# 615234 to Severe congenital hypochromic anemia with ringed sideroblasts, MONDO:0014094
Mendeliome v1.3614 STEAP3 Chirag Patel Phenotypes for gene: STEAP3 were changed from Severe congenital hypochromic anemia with ringed sideroblasts, MONDO:0014094 to Severe congenital hypochromic anemia with ringed sideroblasts, MONDO:0014094
Mendeliome v1.3614 STEAP3 Chirag Patel Phenotypes for gene: STEAP3 were changed from Anaemia, hypochromic microcytic, with iron overload 2, MIM# 615234 to Severe congenital hypochromic anemia with ringed sideroblasts, MONDO:0014094
Mendeliome v1.3613 STEAP3 Chirag Patel Tag disputed tag was added to gene: STEAP3.
Red cell disorders v1.37 Chirag Patel Added reviews for gene STEAP3 from panel Metal Metabolism Disorders
Mendeliome v1.3613 Chirag Patel Added reviews for gene STEAP3 from panel Metal Metabolism Disorders
Red cell disorders v1.36 STEAP3 Chirag Patel Tag disputed tag was added to gene: STEAP3.
Metal Metabolism Disorders v0.51 STEAP3 Chirag Patel Tag disputed tag was added to gene: STEAP3.
Metal Metabolism Disorders v0.51 STEAP3 Chirag Patel reviewed gene: STEAP3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Severe congenital hypochromic anemia with ringed sideroblasts, MONDO:0014094; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.3612 FOXD3 Chirag Patel Phenotypes for gene: FOXD3 were changed from Autoimmune disease, susceptibility to, 1 MONDO:0011919 to Autoimmune disease, susceptibility to, 1 MONDO:0011919; Aniridia, MONDO:0019172
Mendeliome v1.3611 FOXD3 Chirag Patel Deleted their review
Mendeliome v1.3611 Chirag Patel Added reviews for gene FOXD3 from panel Eye Anterior Segment Abnormalities
Eye Anterior Segment Abnormalities v1.17 FOXD3 Chirag Patel Marked gene: FOXD3 as ready
Eye Anterior Segment Abnormalities v1.17 FOXD3 Chirag Patel Gene: foxd3 has been classified as Red List (Low Evidence).
Eye Anterior Segment Abnormalities v1.17 FOXD3 Chirag Patel gene: FOXD3 was added
gene: FOXD3 was added to Eye Anterior Segment Abnormalities. Sources: ClinGen
disputed tags were added to gene: FOXD3.
Mode of inheritance for gene: FOXD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FOXD3 were set to Aniridia, MONDO:0019172
Review for gene: FOXD3 was set to RED
Added comment: ClinGen DISPUTED - Dec 2022
Sources: ClinGen
Mendeliome v1.3610 Chirag Patel Added reviews for gene PRKACG from panel Bleeding and Platelet Disorders
Mendeliome v1.3609 PRKACG Chirag Patel Tag disputed tag was added to gene: PRKACG.
Bleeding and Platelet Disorders v1.62 PRKACG Chirag Patel Tag disputed tag was added to gene: PRKACG.
Bleeding and Platelet Disorders v1.62 PRKACG Chirag Patel reviewed gene: PRKACG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hypertrophic cardiomyopathy_HCM v1.19 VCL Chirag Patel Phenotypes for gene: VCL were changed from Cardiomyopathy, hypertrophic, 15, MIM# 613255 to Hypertrophic cardiomyopathy, MONDO:0005045
Hypertrophic cardiomyopathy_HCM v1.18 VCL Chirag Patel Tag disputed tag was added to gene: VCL.
Hypertrophic cardiomyopathy_HCM v1.18 VCL Chirag Patel reviewed gene: VCL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypertrophic cardiomyopathy, MONDO:0005045; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy_HCM v1.18 TRIM63 Chirag Patel changed review comment from: ClinGen DISPUTED - Oct 2022; to: AD HCM ClinGen DISPUTED - Oct 2022
Hypertrophic cardiomyopathy_HCM v1.18 TRIM63 Chirag Patel reviewed gene: TRIM63: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypertrophic cardiomyopathy, MONDO:0005045; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy_HCM v1.18 MYPN Chirag Patel Phenotypes for gene: MYPN were changed from Hypertrophic cardiomyopathy, MONDO:0005045 to Hypertrophic cardiomyopathy, MONDO:0005045
Hypertrophic cardiomyopathy_HCM v1.18 MYPN Chirag Patel Phenotypes for gene: MYPN were changed from Hypertrophic cardiomyopathy, MONDO:0005045 to Hypertrophic cardiomyopathy, MONDO:0005045
Hypertrophic cardiomyopathy_HCM v1.18 MYPN Chirag Patel reviewed gene: MYPN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypertrophic cardiomyopathy, MONDO:0005045; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy_HCM v1.18 MYPN Chirag Patel Phenotypes for gene: MYPN were changed from Hypertrophic cardiomyopathy, MONDO:0005045 to Hypertrophic cardiomyopathy, MONDO:0005045
Hypertrophic cardiomyopathy_HCM v1.18 MYPN Chirag Patel Phenotypes for gene: MYPN were changed from Hypertrophic cardiomyopathy, MONDO:0005045 to Hypertrophic cardiomyopathy, MONDO:0005045
Hypertrophic cardiomyopathy_HCM v1.18 MYPN Chirag Patel Phenotypes for gene: MYPN were changed from Hypertrophic cardiomyopathy, MONDO:0005045 to Hypertrophic cardiomyopathy, MONDO:0005045
Hypertrophic cardiomyopathy_HCM v1.18 MYPN Chirag Patel Phenotypes for gene: MYPN were changed from Cardiomyopathy, hypertrophic, 22 (MIM# 615248) to Hypertrophic cardiomyopathy, MONDO:0005045
Hypertrophic cardiomyopathy_HCM v1.17 MYPN Chirag Patel Tag disputed tag was added to gene: MYPN.
Mendeliome v1.3609 MYOZ2 Chirag Patel Phenotypes for gene: MYOZ2 were changed from Hypertrophic cardiomyopathy, MONDO:0005045 to Hypertrophic cardiomyopathy, MONDO:0005045
Mendeliome v1.3609 MYOZ2 Chirag Patel Phenotypes for gene: MYOZ2 were changed from Cardiomyopathy, hypertrophic, 16 MIM#613838 to Hypertrophic cardiomyopathy, MONDO:0005045
Mendeliome v1.3608 MYOZ2 Chirag Patel Tag disputed tag was added to gene: MYOZ2.
Mendeliome v1.3608 Chirag Patel Added reviews for gene MYOZ2 from panel Hypertrophic cardiomyopathy_HCM
Hypertrophic cardiomyopathy_HCM v1.17 MYOZ2 Chirag Patel reviewed gene: MYOZ2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypertrophic cardiomyopathy, MONDO:0005045; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy_HCM v1.17 MYOZ2 Chirag Patel Phenotypes for gene: MYOZ2 were changed from Cardiomyopathy, hypertrophic, 16 MIM#613838 to Hypertrophic cardiomyopathy, MONDO:0005045
Hypertrophic cardiomyopathy_HCM v1.16 MYOZ2 Chirag Patel Tag disputed tag was added to gene: MYOZ2.
Mendeliome v1.3607 MYOM1 Chirag Patel Tag disputed tag was added to gene: MYOM1.
Mendeliome v1.3607 Chirag Patel Added reviews for gene MYOM1 from panel Hypertrophic cardiomyopathy_HCM
Hypertrophic cardiomyopathy_HCM v1.16 MYOM1 Chirag Patel Tag disputed tag was added to gene: MYOM1.
Hypertrophic cardiomyopathy_HCM v1.16 MYOM1 Chirag Patel reviewed gene: MYOM1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypertrophic cardiomyopathy, MONDO:0005045; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy_HCM v1.16 KCNQ1 Chirag Patel Marked gene: KCNQ1 as ready
Hypertrophic cardiomyopathy_HCM v1.16 KCNQ1 Chirag Patel Gene: kcnq1 has been classified as Red List (Low Evidence).
Hypertrophic cardiomyopathy_HCM v1.16 KCNQ1 Chirag Patel gene: KCNQ1 was added
gene: KCNQ1 was added to Hypertrophic cardiomyopathy_HCM. Sources: ClinGen
disputed tags were added to gene: KCNQ1.
Mode of inheritance for gene: KCNQ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNQ1 were set to Hypertrophic cardiomyopathy, MONDO:0005045
Review for gene: KCNQ1 was set to RED
Added comment: ClinGen DISPUTED - May 2022
Sources: ClinGen
Mendeliome v1.3606 MYLK2 Chirag Patel Tag disputed tag was added to gene: MYLK2.
Mendeliome v1.3606 Chirag Patel Added reviews for gene MYLK2 from panel Hypertrophic cardiomyopathy_HCM
Hypertrophic cardiomyopathy_HCM v1.15 MYLK2 Chirag Patel Tag disputed tag was added to gene: MYLK2.
Hypertrophic cardiomyopathy_HCM v1.15 MYLK2 Chirag Patel reviewed gene: MYLK2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypertrophic cardiomyopathy, MONDO:0005045; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy_HCM v1.15 MYH6 Chirag Patel Phenotypes for gene: MYH6 were changed from Hypertrophic cardiomyopathy, MONDO:0005045 to Hypertrophic cardiomyopathy, MONDO:0005045
Hypertrophic cardiomyopathy_HCM v1.15 MYH6 Chirag Patel Phenotypes for gene: MYH6 were changed from Hypertrophic cardiomyopathy, MONDO:0005045 to Hypertrophic cardiomyopathy, MONDO:0005045
Hypertrophic cardiomyopathy_HCM v1.15 MYH6 Chirag Patel Phenotypes for gene: MYH6 were changed from Hypertrophic cardiomyopathy, MONDO:0005045 to Hypertrophic cardiomyopathy, MONDO:0005045
Hypertrophic cardiomyopathy_HCM v1.15 MYH6 Chirag Patel Phenotypes for gene: MYH6 were changed from Hypertrophic cardiomyopathy, MONDO:0005045 to Hypertrophic cardiomyopathy, MONDO:0005045
Hypertrophic cardiomyopathy_HCM v1.15 MYH6 Chirag Patel Phenotypes for gene: MYH6 were changed from Hypertrophic cardiomyopathy to Hypertrophic cardiomyopathy, MONDO:0005045
Hypertrophic cardiomyopathy_HCM v1.14 MYH6 Chirag Patel Tag disputed tag was added to gene: MYH6.
Hypertrophic cardiomyopathy_HCM v1.14 MYH6 Chirag Patel reviewed gene: MYH6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypertrophic cardiomyopathy, MONDO:0005045; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy_HCM v1.14 DSP Chirag Patel Marked gene: DSP as ready