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Adult onset dystonia, chorea or related movement disorder v0.49 CHCHD2 Emily Jones reviewed gene: CHCHD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 616710, Parkinson disease 22, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset dystonia, chorea or related movement disorder v0.49 C9orf72 Emily Jones reviewed gene: C9orf72: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: 25326098, 25326098; Phenotypes: (Hexanucleotideexpansion), complex parkinsonism, clinical presentation suggestive of cortico-basal/PSP syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset dystonia, chorea or related movement disorder v0.49 BDNF Emily Jones reviewed gene: BDNF: Rating: RED; Mode of pathogenicity: ; Publications: 23649659, 27780732, 30643666; Phenotypes: Central hypoventilation syndrome, congenital 209880; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset dystonia, chorea or related movement disorder v0.49 AUH Emily Jones reviewed gene: AUH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 3-methylglutaconic aciduria, type I, 250950; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.49 ATXN3 Emily Jones reviewed gene: ATXN3: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: (CAGexpansion), familial parkinsonism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset dystonia, chorea or related movement disorder v0.49 ATXN2 Emily Jones reviewed gene: ATXN2: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Spinocerebellar ataxia 2, 183190, {Amyotrophic lateral sclerosis, susceptibility to, 13}, 183190, {Parkinson disease, late-onset, susceptibility to}, 168600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset dystonia, chorea or related movement disorder v0.49 ATP6AP2 Emily Jones reviewed gene: ATP6AP2: Rating: RED; Mode of pathogenicity: ; Publications: 23595882; Phenotypes: Mental retardation, X-linked, syndromic, Hedera type 300423, ?Parkinsonism with spasticity, X-linked 300911; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Adult onset dystonia, chorea or related movement disorder v0.49 ATN1 Emily Jones reviewed gene: ATN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dentatorubro-pallidoluysian atrophy 125370; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset dystonia, chorea or related movement disorder v0.49 ARX Emily Jones reviewed gene: ARX: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: 29343471, 17664398, 26029707; Phenotypes: Partington Syndrome, 300382; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Adult onset dystonia, chorea or related movement disorder v0.49 ARSA Emily Jones reviewed gene: ARSA: Rating: AMBER; Mode of pathogenicity: ; Publications: 20301334; Phenotypes: Metachromatic leukodystrophy, 250100; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.49 AIFM1 Emily Jones reviewed gene: AIFM1: Rating: RED; Mode of pathogenicity: ; Publications: 20362274; Phenotypes: Combined oxidative phosphorylation deficiency 6 300816; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Adult onset dystonia, chorea or related movement disorder v0.49 AFG3L2 Emily Jones reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.49 ACTB Emily Jones reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 16685646, 28487785, 27862284, 28849312, 29788902; Phenotypes: Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310; Mode of inheritance:
Monogenic hearing loss v1.103 SYNE4 Emma Ashton Deleted their comment
Adult onset dystonia, chorea or related movement disorder v0.48 VPS37A Louise Daugherty Added phenotypes Spastic paraplegia 53, autosomal recessive, 614898 for gene: VPS37A
Publications for gene VPS37A were changed from to 22717650
Adult onset dystonia, chorea or related movement disorder v0.48 UCHL1 Louise Daugherty Added phenotypes ?{Parkinson disease 5, susceptibility to}, 613643; Spastic paraplegia 79, autosomal recessive, 615491 for gene: UCHL1
Publications for gene UCHL1 were changed from to 28007905; 23359680; 29735986; 10048490
Adult onset dystonia, chorea or related movement disorder v0.48 TREX1 Louise Daugherty Added phenotypes Vasculopathy, retinal, with cerebral leukodystrophy, 192315; Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 for gene: TREX1
Publications for gene TREX1 were changed from to 25582466
Adult onset dystonia, chorea or related movement disorder v0.48 TREM2 Louise Daugherty Added phenotypes Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, 618193; Alzheimers disease; Frontotemporal dementia for gene: TREM2
Publications for gene TREM2 were changed from to 26891767
Adult onset dystonia, chorea or related movement disorder v0.48 TPK1 Louise Daugherty Added phenotypes Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 for gene: TPK1
Publications for gene TPK1 were changed from to 28431625
Adult onset dystonia, chorea or related movement disorder v0.48 TIMM8A Louise Daugherty Added phenotypes Mohr-Tranebjaerg syndrome, 304700 for gene: TIMM8A
Publications for gene TIMM8A were changed from to 22736418
Adult onset dystonia, chorea or related movement disorder v0.48 TBP Louise Daugherty Added phenotypes Mohr-Tranebjaerg syndrome, 304700 for gene: TBP
Adult onset dystonia, chorea or related movement disorder v0.48 TAF1 Louise Daugherty Added phenotypes Dystonia-Parkinsonism, X-linked, 314250; SVA retrotransposon insertion Dystonia-Parkinsonism, X-linked, 314250; (NB complex mutation) for gene: TAF1
Publications for gene TAF1 were changed from 12928496; http://www.ncbi.nlm.nih.gov/books/NBK1155/; PMID: 26637982; PMID: 26879577; 26637982; 17668393; PMID: 17273961; PMID: 12928496; 17273961; PMID: 23184149; PMID: 2368812; 20301662; PMID: 26769797 to 26637982; 23184149; 17668393; 17273961; 26769797; 2368812; 20301662; 26879577; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 12928496
Adult onset dystonia, chorea or related movement disorder v0.48 SUOX Louise Daugherty Added phenotypes Sulfite oxidase deficiency, 272300 for gene: SUOX
Publications for gene SUOX were changed from to 28933809
Adult onset dystonia, chorea or related movement disorder v0.48 SNCAIP Louise Daugherty Added phenotypes Parkinson Disease, Dominant/Recessive for gene: SNCAIP
Publications for gene SNCAIP were changed from to 18366718; 21344240
Adult onset dystonia, chorea or related movement disorder v0.48 SLC46A1 Louise Daugherty Added phenotypes Folate malabsorption, hereditary, 229050 for gene: SLC46A1
Publications for gene SLC46A1 were changed from to 20301716
Adult onset dystonia, chorea or related movement disorder v0.48 SLC41A1 Louise Daugherty Added phenotypes Parkinson disease (Yan (2011) Int J Neurosci 121,632) for gene: SLC41A1
Publications for gene SLC41A1 were changed from 24661466 - A novel heterozygous variant (R244H) reported in the SLC41A1 gene was identified in one early onset PD patient, which not present either in 479 PD patients or 525 normal controls with age onset >50; 27612022 and 26308152 - reduced risk of PD association; 21812739 and 20683486 novel heterozygous variants identified in PD patients to 24661466; 26308152; 21812739; 20683486; 27612022
Adult onset dystonia, chorea or related movement disorder v0.48 SDHAF1 Louise Daugherty Added phenotypes Mitochondrial complex II deficiency, 252011 for gene: SDHAF1
Publications for gene SDHAF1 were changed from to 27683074; 23322652
Adult onset dystonia, chorea or related movement disorder v0.48 SCP2 Louise Daugherty Added phenotypes ?Leukoencephalopathy with dystonia and motor neuropathy, 613724 for gene: SCP2
Publications for gene SCP2 were changed from PMID: 16685654 to 26497993; 16685654
Adult onset dystonia, chorea or related movement disorder v0.48 SCN9A Louise Daugherty Added phenotypes Paroxysmal extreme pain disorder, 167400; Erythermalgia, primary, 133020; Erythermalgia, Primary; Paroxysmal Extreme Pain Disorder; Congenital Indifference to Pain; Epilepsy, generalized, with febrile seizures plus, type 7, 613863; Insensitivity to pain, channelopathy-associated, 243000; Dysosteosclerosis; Hereditary Sensory Neuropathy; Febrile seizures, familial, 3B, 613863 for gene: SCN9A
Adult onset dystonia, chorea or related movement disorder v0.48 SAMHD1 Louise Daugherty Added phenotypes Aicardi-Goutieres syndrome 5, 612952 for gene: SAMHD1
Publications for gene SAMHD1 were changed from to 25604658; 20842748
Adult onset dystonia, chorea or related movement disorder v0.48 RNASEH2C Louise Daugherty Added phenotypes Aicardi-Goutieres syndrome 3, 610329 for gene: RNASEH2C
Publications for gene RNASEH2C were changed from to 17846997; 25604658; 16845400
Adult onset dystonia, chorea or related movement disorder v0.48 RNASEH2B Louise Daugherty Added phenotypes Aicardi-Goutieres syndrome 2, 610181 for gene: RNASEH2B
Publications for gene RNASEH2B were changed from to 17846997; 25604658; 16845400
Adult onset dystonia, chorea or related movement disorder v0.48 RNASEH2A Louise Daugherty Added phenotypes Aicardi-Goutieres syndrome 4, 610333 for gene: RNASEH2A
Publications for gene RNASEH2A were changed from to 17846997; 25604658; 16845400
Adult onset dystonia, chorea or related movement disorder v0.48 QDPR Louise Daugherty Added phenotypes Hyperphenylalaninemia, BH4-deficient, C, 261630 for gene: QDPR
Publications for gene QDPR were changed from to 19491146; 26919687; 10677304
Adult onset dystonia, chorea or related movement disorder v0.48 PTS Louise Daugherty Added phenotypes Hyperphenylalaninemia, BH4-deficient, A, 261640 for gene: PTS
Publications for gene PTS were changed from to 26919687
Adult onset dystonia, chorea or related movement disorder v0.48 PTEN Louise Daugherty Added phenotypes Cowden syndrome 1, 158350; Lhermitte-Duclos syndrome, 158350; VATER association with macrocephaly and ventriculomegaly, 276950; Macrocephaly/autism syndrome, 605309 for gene: PTEN
Adult onset dystonia, chorea or related movement disorder v0.48 PSEN1 Louise Daugherty Added phenotypes Pick disease, 172700; Dementia, frontotemporal 600274; Alzheimer disease, type 3, 607822; Cardiomyopathy, dilated, 1U, 613694 for gene: PSEN1
Publications for gene PSEN1 were changed from to 29316780; 28664294
Adult onset dystonia, chorea or related movement disorder v0.48 PNPT1 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 13, 614932 for gene: PNPT1
Publications for gene PNPT1 were changed from to 30046113; 23084291
Adult onset dystonia, chorea or related movement disorder v0.48 PLP1 Louise Daugherty Added phenotypes Pelizaeus-Merzbacher disease, 312080; Spastic paraplegia 2, X-linked, 312920 for gene: PLP1
Publications for gene PLP1 were changed from to 30046645; 11093273
Adult onset dystonia, chorea or related movement disorder v0.48 PDX1 Louise Daugherty Added phenotypes MODY, type IV 606392; Pancreatic agenesis 1 260370 for gene: PDX1
Adult onset dystonia, chorea or related movement disorder v0.48 PDHX Louise Daugherty Added phenotypes Lacticacidemia due to PDX1 deficiency, 245349 for gene: PDHX
Publications for gene PDHX were changed from to 20002125; 25087164
Adult onset dystonia, chorea or related movement disorder v0.48 PCDH12 Louise Daugherty Added phenotypes intellectual disability; Microcephaly; perithalamic hyperechogenicity; midbrain abnormalities; hypothalamic abnormalities; epilepsy; periventricular hyperechogenicity for gene: PCDH12
Publications for gene PCDH12 were changed from 27164683 to 30459466
Adult onset dystonia, chorea or related movement disorder v0.48 NUP62 Louise Daugherty Added phenotypes Striatonigral degeneration, infantile 271930 for gene: NUP62
Adult onset dystonia, chorea or related movement disorder v0.48 NR4A2 Louise Daugherty Added phenotypes Parkinson Disease, Dominant/Recessive (susceptibility to) for gene: NR4A2
Publications for gene NR4A2 were changed from 15184637; 12496759; 15276233; 12827450; 27012974; 24126627; 15390059; 25543265 to 12827450; 25543265; 15390059; 24126627; 27012974; 15184637; 12496759; 15276233
Adult onset dystonia, chorea or related movement disorder v0.48 NPC2 Louise Daugherty Added phenotypes Niemann-pick disease, type C2, 607625 for gene: NPC2
Publications for gene NPC2 were changed from to 11567215
Adult onset dystonia, chorea or related movement disorder v0.48 NKX2-1 Louise Daugherty Added phenotypes Choreoathetosis, hypothyroidism, and neonatal respiratory distress; Chorea, hereditary benign 118700 for gene: NKX2-1
Publications for gene NKX2-1 were changed from 24555207 to 24714694; 24555207
Adult onset dystonia, chorea or related movement disorder v0.48 NDUFS3 Louise Daugherty Added phenotypes Mitochondrial complex I deficiency, nuclear type 8, 618230 for gene: NDUFS3
Publications for gene NDUFS3 were changed from to 14729820; 19167255
Adult onset dystonia, chorea or related movement disorder v0.48 NDUFA9 Louise Daugherty Added phenotypes Mitochondrial complex I deficiency, nuclear type 26, 618247 for gene: NDUFA9
Publications for gene NDUFA9 were changed from 22114105 to 28671271; 22114105
Adult onset dystonia, chorea or related movement disorder v0.48 NDUFA2 Louise Daugherty Added phenotypes Mitochondrial complex I deficiency, nuclear type 13 for gene: NDUFA2
Publications for gene NDUFA2 were changed from 18513682 to 28857146; 18513682; 27159321
Adult onset dystonia, chorea or related movement disorder v0.48 NDUFA12 Louise Daugherty Added phenotypes ?Mitochondrial complex I deficiency, nuclear type 23, 618244 for gene: NDUFA12
Adult onset dystonia, chorea or related movement disorder v0.48 MPV17 Louise Daugherty Added phenotypes Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 for gene: MPV17
Publications for gene MPV17 were changed from to 22593919
Adult onset dystonia, chorea or related movement disorder v0.48 MMADHC Louise Daugherty Added phenotypes Methylmalonic aciduria, cblD type, variant 2; Homocystinuria, cblD type, variant 1; Methylmalonic aciduria and homocystinuria, cblD type, 277410 for gene: MMADHC
Publications for gene MMADHC were changed from to 20301503
Adult onset dystonia, chorea or related movement disorder v0.48 MCOLN1 Louise Daugherty Added phenotypes Mucolipidosis IV, 252650 for gene: MCOLN1
Publications for gene MCOLN1 were changed from to 29449188
Adult onset dystonia, chorea or related movement disorder v0.48 MAT1A Louise Daugherty Added phenotypes Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 for gene: MAT1A
Publications for gene MAT1A were changed from to 26289392
Adult onset dystonia, chorea or related movement disorder v0.48 L2HGDH Louise Daugherty Added phenotypes L-2-hydroxyglutaric aciduria, 236792 for gene: L2HGDH
Publications for gene L2HGDH were changed from to 18780161
Adult onset dystonia, chorea or related movement disorder v0.48 KCNK18 Louise Daugherty Added phenotypes MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13 for gene: KCNK18
Publications for gene KCNK18 were changed from 20871611; 22355750 to 22355750; 20871611
Adult onset dystonia, chorea or related movement disorder v0.48 JPH3 Louise Daugherty Added phenotypes Huntington disease-like 2 for gene: JPH3
Adult onset dystonia, chorea or related movement disorder v0.48 HTT Louise Daugherty Added phenotypes Huntington disease for gene: HTT
Adult onset dystonia, chorea or related movement disorder v0.48 HPRT1 Louise Daugherty Added phenotypes Lesch-Nyhan syndrome, 300322 for gene: HPRT1
Publications for gene HPRT1 were changed from to 20176575
Adult onset dystonia, chorea or related movement disorder v0.48 HEXA Louise Daugherty Added phenotypes Hex A pseudodeficiency 272800; GM2-gangliosidosis, several forms 272800; Tay-Sachs disease 272800 for gene: HEXA
Publications for gene HEXA were changed from to 20301397; 18642377
Adult onset dystonia, chorea or related movement disorder v0.48 GNAL Louise Daugherty Added phenotypes adult-onset cranio-cervical dystonia; Dystonia 25, 615073 for gene: GNAL
Publications for gene GNAL were changed from 23222958; 27093447; 27222887; 24729450; 26725140; 23759320; 27123488; 24151159; 23449625; 25847575; 26810727; 24408567; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 26365774; 26506956; 25382112; 24535567 to 23449625; 26810727; 23222958; 25847575; 26725140; 27123488; 24408567; 26365774; 25382112; 27093447; 24535567; 23759320; 27222887; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 24151159; 26506956; 24729450
Adult onset dystonia, chorea or related movement disorder v0.48 GIGYF2 Louise Daugherty Added phenotypes Susceptibility to Parkinson disease 11, 607688; {Parkinson disease 11} for gene: GIGYF2
Publications for gene GIGYF2 were changed from 19279319; 18358451; 19250854; 201788319; 18923002; 20060621; 20685231; 19482505; 19449032; 19321232; 26134514; 19429085; 20044296 to 20060621; 20044296; 19482505; 201788319; 26134514; 19449032; 19321232; 19429085; 20685231; 18923002; 19250854; 19279319; 18358451
Adult onset dystonia, chorea or related movement disorder v0.48 GFAP Louise Daugherty Added phenotypes Alexander disease 203450 for gene: GFAP
Publications for gene GFAP were changed from 15732098; 14557587 to 14557587; 15732098
Adult onset dystonia, chorea or related movement disorder v0.48 GAMT Louise Daugherty Added phenotypes Cerebral creatine deficiency syndrome 2, 612736 for gene: GAMT
Publications for gene GAMT were changed from to 24268530
Adult onset dystonia, chorea or related movement disorder v0.48 FOXRED1 Louise Daugherty Added phenotypes Mitochondrial complex I deficiency, nuclear type 19, 618241 for gene: FOXRED1
Adult onset dystonia, chorea or related movement disorder v0.48 FOXG1 Louise Daugherty Added phenotypes Rett Syndrome, congenital variant, 613454 for gene: FOXG1
Publications for gene FOXG1 were changed from to 27029630; 29086067
Adult onset dystonia, chorea or related movement disorder v0.48 FASTKD2 Louise Daugherty Added phenotypes Dystonia for gene: FASTKD2
Adult onset dystonia, chorea or related movement disorder v0.48 ERCC6 Louise Daugherty Added phenotypes Dystonia for gene: ERCC6
Adult onset dystonia, chorea or related movement disorder v0.48 EIF4G1 Louise Daugherty Added phenotypes Parkinsons disease 18, 614251 for gene: EIF4G1
Publications for gene EIF4G1 were changed from to 25368108
Adult onset dystonia, chorea or related movement disorder v0.48 EARS2 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 12, 614924. for gene: EARS2
Adult onset dystonia, chorea or related movement disorder v0.48 DRD5 Louise Daugherty Added phenotypes {Blepharospasm, primary benign}, 606798 for gene: DRD5
Publications for gene DRD5 were changed from PMID: 17133500 to 12700316; 17133500
Adult onset dystonia, chorea or related movement disorder v0.48 DRD2 Louise Daugherty Added phenotypes Dystonia, myoclonic, 159900 for gene: DRD2
Publications for gene DRD2 were changed from http://www.ncbi.nlm.nih.gov/books/NBK1414/ to 20301587
Adult onset dystonia, chorea or related movement disorder v0.48 DDC Louise Daugherty Added phenotypes Aromatic L-amino acid decarboxylase deficiency, 608643 for gene: DDC
Publications for gene DDC were changed from to 19172410
Adult onset dystonia, chorea or related movement disorder v0.48 CYP27A1 Louise Daugherty Added phenotypes Cerebrotendinous xanthomatosis, CTX, 213700 for gene: CYP27A1
Publications for gene CYP27A1 were changed from to 24442603
Adult onset dystonia, chorea or related movement disorder v0.48 CIZ1 Louise Daugherty Added phenotypes Dystonia 23, 614860 for gene: CIZ1
Publications for gene CIZ1 were changed from to 22447717
Adult onset dystonia, chorea or related movement disorder v0.48 CHCHD2 Louise Daugherty Added phenotypes 616710; Parkinson disease 22, autosomal dominant for gene: CHCHD2
Adult onset dystonia, chorea or related movement disorder v0.48 C9orf72 Louise Daugherty Added phenotypes complex parkinsonism; (Hexanucleotideexpansion); clinical presentation suggestive of cortico-basal/PSP syndrome for gene: C9orf72
Publications for gene C9orf72 were changed from http://www.ncbi.nlm.nih.gov/pubmed/25326098; 25326098 to 25326098
Adult onset dystonia, chorea or related movement disorder v0.48 BDNF Louise Daugherty Added phenotypes Central hypoventilation syndrome, congenital 209880 for gene: BDNF
Publications for gene BDNF were changed from 23649659; 27780732 to 23649659; 27780732; 30643666
Adult onset dystonia, chorea or related movement disorder v0.48 AUH Louise Daugherty Added phenotypes 3-methylglutaconic aciduria, type I, 250950 for gene: AUH
Adult onset dystonia, chorea or related movement disorder v0.48 ATXN3 Louise Daugherty Added phenotypes (CAGexpansion); familial parkinsonism for gene: ATXN3
Adult onset dystonia, chorea or related movement disorder v0.48 ATXN2 Louise Daugherty Added phenotypes {Parkinson disease, late-onset, susceptibility to}, 168600; {Amyotrophic lateral sclerosis, susceptibility to, 13}, 183190; Spinocerebellar ataxia 2, 183190 for gene: ATXN2
Adult onset dystonia, chorea or related movement disorder v0.48 ATP6AP2 Louise Daugherty Added phenotypes ?Parkinsonism with spasticity, X-linked 300911; Mental retardation, X-linked, syndromic, Hedera type 300423 for gene: ATP6AP2
Adult onset dystonia, chorea or related movement disorder v0.48 ATN1 Louise Daugherty Added phenotypes Dentatorubro-pallidoluysian atrophy 125370 for gene: ATN1
Adult onset dystonia, chorea or related movement disorder v0.48 ARX Louise Daugherty Added phenotypes Partington Syndrome, 300382 for gene: ARX
Publications for gene ARX were changed from to 29343471; 17664398; 26029707
Adult onset dystonia, chorea or related movement disorder v0.48 ARSA Louise Daugherty Added phenotypes Metachromatic leukodystrophy, 250100 for gene: ARSA
Publications for gene ARSA were changed from to 20301334
Adult onset dystonia, chorea or related movement disorder v0.48 AIFM1 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 6 300816 for gene: AIFM1
Adult onset dystonia, chorea or related movement disorder v0.48 AFG3L2 Louise Daugherty Added phenotypes Dystonia for gene: AFG3L2
Adult onset dystonia, chorea or related movement disorder v0.48 ACTB Louise Daugherty Added phenotypes Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310 for gene: ACTB
Publications for gene ACTB were changed from to 28849312; 16685646; 27862284; 28487785; 29788902
Adult onset dystonia, chorea or related movement disorder v0.47 VPS37A Louise Daugherty Source NHS GMS was added to VPS37A.
Adult onset dystonia, chorea or related movement disorder v0.47 UCHL1 Louise Daugherty Source NHS GMS was added to UCHL1.
Adult onset dystonia, chorea or related movement disorder v0.47 TREX1 Louise Daugherty Source NHS GMS was added to TREX1.
Adult onset dystonia, chorea or related movement disorder v0.47 TREM2 Louise Daugherty Source NHS GMS was added to TREM2.
Adult onset dystonia, chorea or related movement disorder v0.47 TPK1 Louise Daugherty Source NHS GMS was added to TPK1.
Adult onset dystonia, chorea or related movement disorder v0.47 TIMM8A Louise Daugherty Source NHS GMS was added to TIMM8A.
Adult onset dystonia, chorea or related movement disorder v0.47 TBP Louise Daugherty Source NHS GMS was added to TBP.
Adult onset dystonia, chorea or related movement disorder v0.47 TAF1 Louise Daugherty Source NHS GMS was added to TAF1.
Adult onset dystonia, chorea or related movement disorder v0.47 SUOX Louise Daugherty Source NHS GMS was added to SUOX.
Adult onset dystonia, chorea or related movement disorder v0.47 SNCAIP Louise Daugherty Source NHS GMS was added to SNCAIP.
Adult onset dystonia, chorea or related movement disorder v0.47 SLC46A1 Louise Daugherty Source NHS GMS was added to SLC46A1.
Adult onset dystonia, chorea or related movement disorder v0.47 SLC41A1 Louise Daugherty Source NHS GMS was added to SLC41A1.
Adult onset dystonia, chorea or related movement disorder v0.47 SDHAF1 Louise Daugherty Source NHS GMS was added to SDHAF1.
Adult onset dystonia, chorea or related movement disorder v0.47 SCP2 Louise Daugherty Source NHS GMS was added to SCP2.
Adult onset dystonia, chorea or related movement disorder v0.47 SCN9A Louise Daugherty Source NHS GMS was added to SCN9A.
Adult onset dystonia, chorea or related movement disorder v0.47 SAMHD1 Louise Daugherty Source NHS GMS was added to SAMHD1.
Adult onset dystonia, chorea or related movement disorder v0.47 RNASEH2C Louise Daugherty Source NHS GMS was added to RNASEH2C.
Adult onset dystonia, chorea or related movement disorder v0.47 RNASEH2B Louise Daugherty Source NHS GMS was added to RNASEH2B.
Adult onset dystonia, chorea or related movement disorder v0.47 RNASEH2A Louise Daugherty Source NHS GMS was added to RNASEH2A.
Adult onset dystonia, chorea or related movement disorder v0.47 QDPR Louise Daugherty Source NHS GMS was added to QDPR.
Adult onset dystonia, chorea or related movement disorder v0.47 PTS Louise Daugherty Source NHS GMS was added to PTS.
Adult onset dystonia, chorea or related movement disorder v0.47 PTEN Louise Daugherty Source NHS GMS was added to PTEN.
Adult onset dystonia, chorea or related movement disorder v0.47 PSEN1 Louise Daugherty Source NHS GMS was added to PSEN1.
Adult onset dystonia, chorea or related movement disorder v0.47 PNPT1 Louise Daugherty Source NHS GMS was added to PNPT1.
Adult onset dystonia, chorea or related movement disorder v0.47 PLP1 Louise Daugherty Source NHS GMS was added to PLP1.
Adult onset dystonia, chorea or related movement disorder v0.47 PDX1 Louise Daugherty Source NHS GMS was added to PDX1.
Adult onset dystonia, chorea or related movement disorder v0.47 PDHX Louise Daugherty Source NHS GMS was added to PDHX.
Adult onset dystonia, chorea or related movement disorder v0.47 PCDH12 Louise Daugherty Source NHS GMS was added to PCDH12.
Adult onset dystonia, chorea or related movement disorder v0.47 NUP62 Louise Daugherty Source NHS GMS was added to NUP62.
Adult onset dystonia, chorea or related movement disorder v0.47 NR4A2 Louise Daugherty Source NHS GMS was added to NR4A2.
Adult onset dystonia, chorea or related movement disorder v0.47 NPC2 Louise Daugherty Source NHS GMS was added to NPC2.
Adult onset dystonia, chorea or related movement disorder v0.47 NKX2-1 Louise Daugherty Source NHS GMS was added to NKX2-1.
Adult onset dystonia, chorea or related movement disorder v0.47 NDUFS3 Louise Daugherty Source NHS GMS was added to NDUFS3.
Adult onset dystonia, chorea or related movement disorder v0.47 NDUFA9 Louise Daugherty Source NHS GMS was added to NDUFA9.
Adult onset dystonia, chorea or related movement disorder v0.47 NDUFA2 Louise Daugherty Source NHS GMS was added to NDUFA2.
Adult onset dystonia, chorea or related movement disorder v0.47 NDUFA12 Louise Daugherty Source NHS GMS was added to NDUFA12.
Adult onset dystonia, chorea or related movement disorder v0.47 MR1 Louise Daugherty Source NHS GMS was added to MR1.
Adult onset dystonia, chorea or related movement disorder v0.47 MPV17 Louise Daugherty Source NHS GMS was added to MPV17.
Adult onset dystonia, chorea or related movement disorder v0.47 MMADHC Louise Daugherty Source NHS GMS was added to MMADHC.
Adult onset dystonia, chorea or related movement disorder v0.47 MCOLN1 Louise Daugherty Source NHS GMS was added to MCOLN1.
Adult onset dystonia, chorea or related movement disorder v0.47 MAT1A Louise Daugherty Source NHS GMS was added to MAT1A.
Adult onset dystonia, chorea or related movement disorder v0.47 L2HGDH Louise Daugherty Source NHS GMS was added to L2HGDH.
Adult onset dystonia, chorea or related movement disorder v0.47 KCNK18 Louise Daugherty Source NHS GMS was added to KCNK18.
Adult onset dystonia, chorea or related movement disorder v0.47 JPH3 Louise Daugherty Source NHS GMS was added to JPH3.
Adult onset dystonia, chorea or related movement disorder v0.47 IPPK Louise Daugherty Source NHS GMS was added to IPPK.
Adult onset dystonia, chorea or related movement disorder v0.47 HTT Louise Daugherty Source NHS GMS was added to HTT.
Adult onset dystonia, chorea or related movement disorder v0.47 HPRT1 Louise Daugherty Source NHS GMS was added to HPRT1.
Adult onset dystonia, chorea or related movement disorder v0.47 HEXA Louise Daugherty Source NHS GMS was added to HEXA.
Adult onset dystonia, chorea or related movement disorder v0.47 GNAL Louise Daugherty Source NHS GMS was added to GNAL.
Adult onset dystonia, chorea or related movement disorder v0.47 GIGYF2 Louise Daugherty Source NHS GMS was added to GIGYF2.
Adult onset dystonia, chorea or related movement disorder v0.47 GFAP Louise Daugherty Source NHS GMS was added to GFAP.
Adult onset dystonia, chorea or related movement disorder v0.47 GAMT Louise Daugherty Source NHS GMS was added to GAMT.
Adult onset dystonia, chorea or related movement disorder v0.47 FOXRED1 Louise Daugherty Source NHS GMS was added to FOXRED1.
Adult onset dystonia, chorea or related movement disorder v0.47 FOXG1 Louise Daugherty Source NHS GMS was added to FOXG1.
Adult onset dystonia, chorea or related movement disorder v0.47 FASTKD2 Louise Daugherty Source NHS GMS was added to FASTKD2.
Adult onset dystonia, chorea or related movement disorder v0.47 ERCC6 Louise Daugherty Source NHS GMS was added to ERCC6.
Adult onset dystonia, chorea or related movement disorder v0.47 EIF4G1 Louise Daugherty Source NHS GMS was added to EIF4G1.
Adult onset dystonia, chorea or related movement disorder v0.47 EARS2 Louise Daugherty Source NHS GMS was added to EARS2.
Adult onset dystonia, chorea or related movement disorder v0.47 DRD5 Louise Daugherty Source NHS GMS was added to DRD5.
Adult onset dystonia, chorea or related movement disorder v0.47 DRD2 Louise Daugherty Source NHS GMS was added to DRD2.
Adult onset dystonia, chorea or related movement disorder v0.47 DDC Louise Daugherty Source NHS GMS was added to DDC.
Adult onset dystonia, chorea or related movement disorder v0.47 DCAF10 Louise Daugherty Source NHS GMS was added to DCAF10.
Adult onset dystonia, chorea or related movement disorder v0.47 CYP27A1 Louise Daugherty Source NHS GMS was added to CYP27A1.
Adult onset dystonia, chorea or related movement disorder v0.47 CIZ1 Louise Daugherty Source NHS GMS was added to CIZ1.
Adult onset dystonia, chorea or related movement disorder v0.47 CHCHD2 Louise Daugherty Source NHS GMS was added to CHCHD2.
Adult onset dystonia, chorea or related movement disorder v0.47 C9orf72 Louise Daugherty Source NHS GMS was added to C9orf72.
Adult onset dystonia, chorea or related movement disorder v0.47 BDNF Louise Daugherty Source NHS GMS was added to BDNF.
Adult onset dystonia, chorea or related movement disorder v0.47 AUH Louise Daugherty Source NHS GMS was added to AUH.
Adult onset dystonia, chorea or related movement disorder v0.47 ATXN3 Louise Daugherty Source NHS GMS was added to ATXN3.
Adult onset dystonia, chorea or related movement disorder v0.47 ATXN2 Louise Daugherty Source NHS GMS was added to ATXN2.
Adult onset dystonia, chorea or related movement disorder v0.47 ATP6AP2 Louise Daugherty Source NHS GMS was added to ATP6AP2.
Adult onset dystonia, chorea or related movement disorder v0.47 ATN1 Louise Daugherty Source NHS GMS was added to ATN1.
Adult onset dystonia, chorea or related movement disorder v0.47 ARX Louise Daugherty Source NHS GMS was added to ARX.
Adult onset dystonia, chorea or related movement disorder v0.47 ARSA Louise Daugherty Source NHS GMS was added to ARSA.
Adult onset dystonia, chorea or related movement disorder v0.47 AIFM1 Louise Daugherty Source NHS GMS was added to AIFM1.
Adult onset dystonia, chorea or related movement disorder v0.47 AFG3L2 Louise Daugherty Source NHS GMS was added to AFG3L2.
Adult onset dystonia, chorea or related movement disorder v0.47 ACTB Louise Daugherty Source NHS GMS was added to ACTB.
Adult onset dystonia, chorea or related movement disorder v0.46 VPS37A Louise Daugherty Source South West GLH was added to VPS37A.
Adult onset dystonia, chorea or related movement disorder v0.46 UCHL1 Louise Daugherty Source South West GLH was added to UCHL1.
Adult onset dystonia, chorea or related movement disorder v0.46 TREX1 Louise Daugherty Source South West GLH was added to TREX1.
Adult onset dystonia, chorea or related movement disorder v0.46 TREM2 Louise Daugherty Source South West GLH was added to TREM2.
Adult onset dystonia, chorea or related movement disorder v0.46 TPK1 Louise Daugherty Source South West GLH was added to TPK1.
Adult onset dystonia, chorea or related movement disorder v0.46 TIMM8A Louise Daugherty Source South West GLH was added to TIMM8A.
Adult onset dystonia, chorea or related movement disorder v0.46 TBP Louise Daugherty Source South West GLH was added to TBP.
Adult onset dystonia, chorea or related movement disorder v0.46 TAF1 Louise Daugherty Source South West GLH was added to TAF1.
Adult onset dystonia, chorea or related movement disorder v0.46 SUOX Louise Daugherty Source South West GLH was added to SUOX.
Adult onset dystonia, chorea or related movement disorder v0.46 SNCAIP Louise Daugherty Source South West GLH was added to SNCAIP.
Adult onset dystonia, chorea or related movement disorder v0.46 SLC46A1 Louise Daugherty Source South West GLH was added to SLC46A1.
Adult onset dystonia, chorea or related movement disorder v0.46 SLC41A1 Louise Daugherty Source South West GLH was added to SLC41A1.
Adult onset dystonia, chorea or related movement disorder v0.46 SDHAF1 Louise Daugherty Source South West GLH was added to SDHAF1.
Adult onset dystonia, chorea or related movement disorder v0.46 SCP2 Louise Daugherty Source South West GLH was added to SCP2.
Adult onset dystonia, chorea or related movement disorder v0.46 SCN9A Louise Daugherty Source South West GLH was added to SCN9A.
Adult onset dystonia, chorea or related movement disorder v0.46 SAMHD1 Louise Daugherty Source South West GLH was added to SAMHD1.
Adult onset dystonia, chorea or related movement disorder v0.46 RNASEH2C Louise Daugherty Source South West GLH was added to RNASEH2C.
Adult onset dystonia, chorea or related movement disorder v0.46 RNASEH2B Louise Daugherty Source South West GLH was added to RNASEH2B.
Adult onset dystonia, chorea or related movement disorder v0.46 RNASEH2A Louise Daugherty Source South West GLH was added to RNASEH2A.
Adult onset dystonia, chorea or related movement disorder v0.46 QDPR Louise Daugherty Source South West GLH was added to QDPR.
Adult onset dystonia, chorea or related movement disorder v0.46 PTS Louise Daugherty Source South West GLH was added to PTS.
Adult onset dystonia, chorea or related movement disorder v0.46 PTEN Louise Daugherty Source South West GLH was added to PTEN.
Adult onset dystonia, chorea or related movement disorder v0.46 PSEN1 Louise Daugherty Source South West GLH was added to PSEN1.
Adult onset dystonia, chorea or related movement disorder v0.46 PNPT1 Louise Daugherty Source South West GLH was added to PNPT1.
Adult onset dystonia, chorea or related movement disorder v0.46 PLP1 Louise Daugherty Source South West GLH was added to PLP1.
Adult onset dystonia, chorea or related movement disorder v0.46 PDX1 Louise Daugherty Source South West GLH was added to PDX1.
Adult onset dystonia, chorea or related movement disorder v0.46 PDHX Louise Daugherty Source South West GLH was added to PDHX.
Adult onset dystonia, chorea or related movement disorder v0.46 PCDH12 Louise Daugherty Source South West GLH was added to PCDH12.
Adult onset dystonia, chorea or related movement disorder v0.46 NUP62 Louise Daugherty Source South West GLH was added to NUP62.
Adult onset dystonia, chorea or related movement disorder v0.46 NR4A2 Louise Daugherty Source South West GLH was added to NR4A2.
Adult onset dystonia, chorea or related movement disorder v0.46 NPC2 Louise Daugherty Source South West GLH was added to NPC2.
Adult onset dystonia, chorea or related movement disorder v0.46 NKX2-1 Louise Daugherty Source South West GLH was added to NKX2-1.
Adult onset dystonia, chorea or related movement disorder v0.46 NDUFS3 Louise Daugherty Source South West GLH was added to NDUFS3.
Adult onset dystonia, chorea or related movement disorder v0.46 NDUFA9 Louise Daugherty Source South West GLH was added to NDUFA9.
Adult onset dystonia, chorea or related movement disorder v0.46 NDUFA2 Louise Daugherty Source South West GLH was added to NDUFA2.
Adult onset dystonia, chorea or related movement disorder v0.46 NDUFA12 Louise Daugherty Source South West GLH was added to NDUFA12.
Adult onset dystonia, chorea or related movement disorder v0.46 MR1 Louise Daugherty Source South West GLH was added to MR1.
Adult onset dystonia, chorea or related movement disorder v0.46 MPV17 Louise Daugherty Source South West GLH was added to MPV17.
Adult onset dystonia, chorea or related movement disorder v0.46 MMADHC Louise Daugherty Source South West GLH was added to MMADHC.
Adult onset dystonia, chorea or related movement disorder v0.46 MCOLN1 Louise Daugherty Source South West GLH was added to MCOLN1.
Adult onset dystonia, chorea or related movement disorder v0.46 MAT1A Louise Daugherty Source South West GLH was added to MAT1A.
Adult onset dystonia, chorea or related movement disorder v0.46 L2HGDH Louise Daugherty Source South West GLH was added to L2HGDH.
Adult onset dystonia, chorea or related movement disorder v0.46 KCNK18 Louise Daugherty Source South West GLH was added to KCNK18.
Adult onset dystonia, chorea or related movement disorder v0.46 JPH3 Louise Daugherty Source South West GLH was added to JPH3.
Adult onset dystonia, chorea or related movement disorder v0.46 IPPK Louise Daugherty Source South West GLH was added to IPPK.
Adult onset dystonia, chorea or related movement disorder v0.46 HTT Louise Daugherty Source South West GLH was added to HTT.
Adult onset dystonia, chorea or related movement disorder v0.46 HPRT1 Louise Daugherty Source South West GLH was added to HPRT1.
Adult onset dystonia, chorea or related movement disorder v0.46 HEXA Louise Daugherty Source South West GLH was added to HEXA.
Adult onset dystonia, chorea or related movement disorder v0.46 GNAL Louise Daugherty Source South West GLH was added to GNAL.
Adult onset dystonia, chorea or related movement disorder v0.46 GIGYF2 Louise Daugherty Source South West GLH was added to GIGYF2.
Adult onset dystonia, chorea or related movement disorder v0.46 GFAP Louise Daugherty Source South West GLH was added to GFAP.
Adult onset dystonia, chorea or related movement disorder v0.46 GAMT Louise Daugherty Source South West GLH was added to GAMT.
Adult onset dystonia, chorea or related movement disorder v0.46 FOXRED1 Louise Daugherty Source South West GLH was added to FOXRED1.
Adult onset dystonia, chorea or related movement disorder v0.46 FOXG1 Louise Daugherty Source South West GLH was added to FOXG1.
Adult onset dystonia, chorea or related movement disorder v0.46 FASTKD2 Louise Daugherty Source South West GLH was added to FASTKD2.
Adult onset dystonia, chorea or related movement disorder v0.46 ERCC6 Louise Daugherty Source South West GLH was added to ERCC6.
Adult onset dystonia, chorea or related movement disorder v0.46 EIF4G1 Louise Daugherty Source South West GLH was added to EIF4G1.
Adult onset dystonia, chorea or related movement disorder v0.46 EARS2 Louise Daugherty Source South West GLH was added to EARS2.
Adult onset dystonia, chorea or related movement disorder v0.46 DRD5 Louise Daugherty Source South West GLH was added to DRD5.
Adult onset dystonia, chorea or related movement disorder v0.46 DRD2 Louise Daugherty Source South West GLH was added to DRD2.
Adult onset dystonia, chorea or related movement disorder v0.46 DDC Louise Daugherty Source South West GLH was added to DDC.
Adult onset dystonia, chorea or related movement disorder v0.46 DCAF10 Louise Daugherty Source South West GLH was added to DCAF10.
Adult onset dystonia, chorea or related movement disorder v0.46 CYP27A1 Louise Daugherty Source South West GLH was added to CYP27A1.
Adult onset dystonia, chorea or related movement disorder v0.46 CIZ1 Louise Daugherty Source South West GLH was added to CIZ1.
Adult onset dystonia, chorea or related movement disorder v0.46 CHCHD2 Louise Daugherty Source South West GLH was added to CHCHD2.
Adult onset dystonia, chorea or related movement disorder v0.46 C9orf72 Louise Daugherty Source South West GLH was added to C9orf72.
Adult onset dystonia, chorea or related movement disorder v0.46 BDNF Louise Daugherty Source South West GLH was added to BDNF.
Adult onset dystonia, chorea or related movement disorder v0.46 AUH Louise Daugherty Source South West GLH was added to AUH.
Adult onset dystonia, chorea or related movement disorder v0.46 ATXN3 Louise Daugherty Source South West GLH was added to ATXN3.
Adult onset dystonia, chorea or related movement disorder v0.46 ATXN2 Louise Daugherty Source South West GLH was added to ATXN2.
Adult onset dystonia, chorea or related movement disorder v0.46 ATP6AP2 Louise Daugherty Source South West GLH was added to ATP6AP2.
Adult onset dystonia, chorea or related movement disorder v0.46 ATN1 Louise Daugherty Source South West GLH was added to ATN1.
Adult onset dystonia, chorea or related movement disorder v0.46 ARX Louise Daugherty Source South West GLH was added to ARX.
Adult onset dystonia, chorea or related movement disorder v0.46 ARSA Louise Daugherty Source South West GLH was added to ARSA.
Adult onset dystonia, chorea or related movement disorder v0.46 AIFM1 Louise Daugherty Source South West GLH was added to AIFM1.
Adult onset dystonia, chorea or related movement disorder v0.46 AFG3L2 Louise Daugherty Source South West GLH was added to AFG3L2.
Adult onset dystonia, chorea or related movement disorder v0.46 ACTB Louise Daugherty Source South West GLH was added to ACTB.
Fetal anomalies v0.197 DSTYK Rebecca Foulger commented on gene: DSTYK: Note that a new gene:disorder association was added to DDG2P in March 2019: Autosomal Recessive Complicated Spastic Paraparesis SPG23. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: biallelic. Not yet included the spastic paraplegia phenotype (or biallelic inheritance) on this Fetal anomalies panel for DSTYK because the 3 families identified in PMID:28157540 have the same variant, and haplotype analysis suggests a Founder effect.
Fetal anomalies v0.197 VPS53 Rebecca Foulger commented on gene: VPS53: Updated rating from Amber to Green to match confirmed Disease confidence rating in DD-G2P for new disorder (Progressive cerebella-cerebral atrophy type 2). Phenotype requires clinical review for fetal relevance.
Fetal anomalies v0.197 FBXO11 Rebecca Foulger Tag watchlist tag was added to gene: FBXO11.
Fetal anomalies v0.197 FBXO11 Rebecca Foulger commented on gene: FBXO11: Added watchlist tag to reflect multiple Disease confidence ratings in DD-G2P for different disorders: Rated confirmed for Variable Neurodevelopmental Disorder. Rated possible for FBXO11 related intellectual disability.
Fetal anomalies v0.197 CACNA1E Rebecca Foulger commented on gene: CACNA1E: Added watchlist tag to reflect multiple Disease confidence ratings in DD-G2P for different disorders: Rated confirmed for Developmental and Epileptic Encephalopathy with Contractures Macrocephaly and Dyskinesias. Rated probable for Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesia.
Fetal anomalies v0.197 CACNA1E Rebecca Foulger Tag watchlist tag was added to gene: CACNA1E.
Fetal anomalies v0.197 SPTBN2 Rebecca Foulger Added comment: Comment on phenotypes: Added more informative phenotype description from OMIM (Spinocerebellar ataxia, autosomal recessive 14, 615386) as Gene2Phenotype names the disorder as SCA14.
Fetal anomalies v0.197 SPTBN2 Rebecca Foulger Phenotypes for gene: SPTBN2 were changed from SCA14; Infantile ataxia with oculomotor and pyramidal signs; Spinocerebellar ataxia, autosomal recessive 14, 615386 to SCA14; Infantile ataxia with oculomotor and pyramidal signs; Spinocerebellar ataxia, autosomal recessive 14, 615386
Fetal anomalies v0.196 SPTBN2 Rebecca Foulger Added comment: Comment on mode of inheritance: Two new disorders added to DD-G2P in March 2019, with different modes of inheritance: biallelic for SCA14, and monoallelic for Infantile ataxia with oculomotor and pyramidal signs. Set inheritance to 'biallelic' only because biallelic 'SCA14' disorder is confirmed, and monoallelic 'Infantile ataxia with oculomotor and pyramidal signs' disorder is probable.
Fetal anomalies v0.196 SPTBN2 Rebecca Foulger Mode of inheritance for gene: SPTBN2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.195 SPTBN2 Rebecca Foulger commented on gene: SPTBN2: Added 'watchlist' tag to highlight multiple Disease confidence ratings in DD-G2P. Rated confirmed for biallelic SCA14. Rated probable for Infantile ataxia with oculomotor and pyramidal signs.
Fetal anomalies v0.195 SPTBN2 Rebecca Foulger Tag watchlist tag was added to gene: SPTBN2.
Fetal anomalies v0.195 SIM1 Rebecca Foulger commented on gene: SIM1: Added 'multifactorial' tag to represent the 'Mu/Multifactorial' component of the mode of inheritance reported in OMM (AR,AD,Mu).
Fetal anomalies v0.195 SIM1 Rebecca Foulger Added comment: Comment on mode of inheritance: Although the DD-G2P Disease confidence rating is confirmed for 'Severe obesity with neurobehavioral features', the MOI was missing in Gene2Phenotype at the time when SIM1 was added to the DDG2P panel. Set the inheritance to 'both monoallelic and biallelic' to match the AR,AD,Mu (Multifactorial) inheritance in OMIM for Obesity, severe (MIM:601665).
Fetal anomalies v0.195 SIM1 Rebecca Foulger Mode of inheritance for gene: SIM1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.194 SIM1 Rebecca Foulger Tag multifactorial tag was added to gene: SIM1.
Fetal anomalies v0.194 C11orf70 Rebecca Foulger Added comment: Comment on mode of inheritance: Although the DD-G2P Disease confidence rating is 'confirmed' for PRIMARY CILIARY DYSKINESIA, the MOI was missing in Gene2Phenotype at the time when C11orf70 (CFAP300) was added to the Fetal anomalies panel. Therefore, set inheritance to 'biallelic' to match AR inheritance recorded in OMIM for Ciliary dyskinesia, primary, 38, 618063.
Fetal anomalies v0.194 C11orf70 Rebecca Foulger Mode of inheritance for gene: C11orf70 was changed from to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.193 C11orf70 Rebecca Foulger commented on gene: C11orf70: Added 'new-gene-name' tag: C11orf70 has a new gene symbol in HGNC: CFAP300.
Fetal anomalies v0.193 C11orf70 Rebecca Foulger Tag new-gene-name tag was added to gene: C11orf70.
Fetal anomalies v0.193 FBXO11 Rebecca Foulger reviewed gene: FBXO11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.193 CACNA1E Rebecca Foulger reviewed gene: CACNA1E: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.193 TOP3A Rebecca Foulger reviewed gene: TOP3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.193 SUZ12 Rebecca Foulger reviewed gene: SUZ12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.193 SPTBN2 Rebecca Foulger reviewed gene: SPTBN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.193 SIM1 Rebecca Foulger reviewed gene: SIM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.193 SEPSECS Rebecca Foulger reviewed gene: SEPSECS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.193 DNAH9 Rebecca Foulger reviewed gene: DNAH9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.193 C11orf70 Rebecca Foulger reviewed gene: C11orf70: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.192 FBXO11 Rebecca Foulger gene: FBXO11 was added
gene: FBXO11 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: FBXO11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FBXO11 were set to 30057029
Phenotypes for gene: FBXO11 were set to Variable Neurodevelopmental Disorder
Fetal anomalies v0.192 CACNA1E Rebecca Foulger gene: CACNA1E was added
gene: CACNA1E was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: CACNA1E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CACNA1E were set to 30849329
Phenotypes for gene: CACNA1E were set to Developmental and Epileptic Encephalopathy with Contractures Macrocephaly and Dyskinesias; Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesia
Mode of pathogenicity for gene: CACNA1E was set to Other - please provide details in the comments
Fetal anomalies v0.192 VPS53 Rebecca Foulger Source DD-Gene2Phenotype was added to VPS53.
Source Expert Review Green was added to VPS53.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.192 TOP3A Rebecca Foulger gene: TOP3A was added
gene: TOP3A was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: TOP3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOP3A were set to 30193137
Phenotypes for gene: TOP3A were set to Bloom Syndrome like Disorder
Fetal anomalies v0.192 SUZ12 Rebecca Foulger gene: SUZ12 was added
gene: SUZ12 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: SUZ12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SUZ12 were set to 30019515; 28229514
Phenotypes for gene: SUZ12 were set to Weaver-like overgrowth syndrome
Fetal anomalies v0.192 SPTBN2 Rebecca Foulger gene: SPTBN2 was added
gene: SPTBN2 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: SPTBN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPTBN2 were set to 29196973; 28636205
Phenotypes for gene: SPTBN2 were set to SCA14; Infantile ataxia with oculomotor and pyramidal signs; Spinocerebellar ataxia, autosomal recessive 14, 615386
Fetal anomalies v0.192 SIM1 Rebecca Foulger gene: SIM1 was added
gene: SIM1 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: SIM1 was set to
Publications for gene: SIM1 were set to 28472148; 23778136; 23778139
Phenotypes for gene: SIM1 were set to Severe obesity with neurobehavioral features
Fetal anomalies v0.192 SEPSECS Rebecca Foulger gene: SEPSECS was added
gene: SEPSECS was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: SEPSECS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEPSECS were set to 29464431; 26805434; 26888482
Phenotypes for gene: SEPSECS were set to Pontocerebellar hypoplasia type 2D
Fetal anomalies v0.192 DNAH9 Rebecca Foulger gene: DNAH9 was added
gene: DNAH9 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: DNAH9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAH9 were set to 30471717; 30471718
Phenotypes for gene: DNAH9 were set to Motile Cilia Defects and Situs Inversus
Fetal anomalies v0.192 C11orf70 Rebecca Foulger gene: C11orf70 was added
gene: C11orf70 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: C11orf70 was set to
Publications for gene: C11orf70 were set to 29727693; 29727692
Phenotypes for gene: C11orf70 were set to PRIMARY CILIARY DYSKINESIA
DDG2P v1.41 SIM1 Rebecca Foulger commented on gene: SIM1: Added 'multifactorial' tag to represent the 'Mu/Multifactorial' component of the mode of inheritance reported in OMM (AR,AD,Mu).
DDG2P v1.41 SIM1 Rebecca Foulger Tag multifactorial tag was added to gene: SIM1.
DDG2P v1.41 SIM1 Rebecca Foulger Added comment: Comment on mode of inheritance: Although the DD-G2P Disease confidence rating is confirmed for 'Severe obesity with neurobehavioral features', the MOI was missing in Gene2Phenotype at the time when SIM1 was added to the DDG2P panel. Set the inheritance to 'both monoallelic and biallelic' to match the AR,AD inheritance in OMIM for Obesity, severe (MIM:601665).
DDG2P v1.41 SIM1 Rebecca Foulger Mode of inheritance for gene: SIM1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v1.40 SPTBN2 Rebecca Foulger Added comment: Comment on mode of inheritance: Multiple MOIs for different disorders in DD-Gene2Phenotype: biallelic for SCA14, and monoallelic for Infantile ataxia with oculomotor and pyramidal signs. Set inheritance to 'biallelic' only because biallelic 'SCA14' disorder is confirmed, and monoallelic 'Infantile ataxia with oculomotor and pyramidal signs' disorder is probable.
DDG2P v1.40 SPTBN2 Rebecca Foulger Mode of inheritance for gene: SPTBN2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
DDG2P v1.39 SPTBN2 Rebecca Foulger Tag watchlist tag was added to gene: SPTBN2.
DDG2P v1.39 SPTBN2 Rebecca Foulger commented on gene: SPTBN2: Added 'watchlist' tag to highlight multiple Disease confidence ratings in DD-G2P. Rated confirmed for 'SCA14'. Rated probable for 'Infantile ataxia with oculomotor and pyramidal signs'.
DDG2P v1.39 C11orf70 Rebecca Foulger Added comment: Comment on mode of inheritance: Although the DD-G2P Disease confidence rating is 'confirmed' for PRIMARY CILIARY DYSKINESIA, the MOI was missing in Gene2Phenotype at the time when C11orf70 (CFAP300) was added to the DDG2P panel. Therefore, set inheritance to 'biallelic' to match AR inheritance recorded in OMIM for Ciliary dyskinesia, primary, 38, 618063.
DDG2P v1.39 C11orf70 Rebecca Foulger Mode of inheritance for gene: C11orf70 was changed from to BIALLELIC, autosomal or pseudoautosomal
DDG2P v1.38 C11orf70 Rebecca Foulger Tag new-gene-name tag was added to gene: C11orf70.
DDG2P v1.38 C11orf70 Rebecca Foulger commented on gene: C11orf70: Added 'new-gene-name' tag: C11orf70 has a new gene symbol in HGNC: CFAP300.
DDG2P v1.38 ATP5D Rebecca Foulger commented on gene: ATP5D: Added 'new-gene-name' tag: ATP5D has a new gene symbol in HGNC: ATP5F1D.
DDG2P v1.38 ATP5D Rebecca Foulger Tag new-gene-name tag was added to gene: ATP5D.
DDG2P v1.38 ZMIZ1 Rebecca Foulger reviewed gene: ZMIZ1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 WASF1 Rebecca Foulger reviewed gene: WASF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 VPS53 Rebecca Foulger reviewed gene: VPS53: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 TRRAP Rebecca Foulger reviewed gene: TRRAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 TRPV6 Rebecca Foulger reviewed gene: TRPV6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 TOP3A Rebecca Foulger reviewed gene: TOP3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 TMEM94 Rebecca Foulger reviewed gene: TMEM94: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 SUZ12 Rebecca Foulger reviewed gene: SUZ12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 SPTBN2 Rebecca Foulger reviewed gene: SPTBN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 SOX4 Rebecca Foulger reviewed gene: SOX4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 SMARCC2 Rebecca Foulger reviewed gene: SMARCC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 SIM1 Rebecca Foulger reviewed gene: SIM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 SEPSECS Rebecca Foulger reviewed gene: SEPSECS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 RNF13 Rebecca Foulger reviewed gene: RNF13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 RMI1 Rebecca Foulger reviewed gene: RMI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 RHOBTB2 Rebecca Foulger reviewed gene: RHOBTB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 PUS7 Rebecca Foulger reviewed gene: PUS7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 PRR12 Rebecca Foulger reviewed gene: PRR12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 PPP2CA Rebecca Foulger reviewed gene: PPP2CA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 PMPCB Rebecca Foulger reviewed gene: PMPCB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 PIGS Rebecca Foulger reviewed gene: PIGS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 PAK1 Rebecca Foulger reviewed gene: PAK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 NPR3 Rebecca Foulger reviewed gene: NPR3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 NDUFB8 Rebecca Foulger reviewed gene: NDUFB8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 NDUFA6 Rebecca Foulger reviewed gene: NDUFA6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 NCAPG2 Rebecca Foulger reviewed gene: NCAPG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 NBEA Rebecca Foulger reviewed gene: NBEA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 MYF5 Rebecca Foulger reviewed gene: MYF5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 MRPS2 Rebecca Foulger reviewed gene: MRPS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 MED13 Rebecca Foulger reviewed gene: MED13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 MAPK8IP3 Rebecca Foulger reviewed gene: MAPK8IP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 MACF1 Rebecca Foulger reviewed gene: MACF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 LNPK Rebecca Foulger reviewed gene: LNPK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 IRF2BPL Rebecca Foulger reviewed gene: IRF2BPL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 GAS2L2 Rebecca Foulger reviewed gene: GAS2L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 FUT8 Rebecca Foulger reviewed gene: FUT8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 FUK Rebecca Foulger reviewed gene: FUK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 FDFT1 Rebecca Foulger reviewed gene: FDFT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 EXTL3 Rebecca Foulger reviewed gene: EXTL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 EXOSC9 Rebecca Foulger reviewed gene: EXOSC9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 EPRS Rebecca Foulger reviewed gene: EPRS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 DNAH9 Rebecca Foulger reviewed gene: DNAH9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 DHPS Rebecca Foulger reviewed gene: DHPS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 CNPY3 Rebecca Foulger reviewed gene: CNPY3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 C11orf70 Rebecca Foulger reviewed gene: C11orf70: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 CCNK Rebecca Foulger reviewed gene: CCNK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 CCDC47 Rebecca Foulger reviewed gene: CCDC47: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 CARS Rebecca Foulger reviewed gene: CARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 ATP6V1E1 Rebecca Foulger reviewed gene: ATP6V1E1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 ATP6V1A Rebecca Foulger reviewed gene: ATP6V1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 ATP5D Rebecca Foulger reviewed gene: ATP5D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 ATP1A1 Rebecca Foulger reviewed gene: ATP1A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 ATN1 Rebecca Foulger reviewed gene: ATN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 ARL3 Rebecca Foulger reviewed gene: ARL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 ADPRHL2 Rebecca Foulger reviewed gene: ADPRHL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 ADAMTS9 Rebecca Foulger reviewed gene: ADAMTS9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.37 ZMIZ1 Rebecca Foulger gene: ZMIZ1 was added
gene: ZMIZ1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ZMIZ1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ZMIZ1 were set to 30639322
Phenotypes for gene: ZMIZ1 were set to Syndromic Neurodevelopmental Disorder
DDG2P v1.37 WASF1 Rebecca Foulger gene: WASF1 was added
gene: WASF1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: WASF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: WASF1 were set to 29961568
Phenotypes for gene: WASF1 were set to Intellectual Disability with Seizures
DDG2P v1.37 VPS53 Rebecca Foulger gene: VPS53 was added
gene: VPS53 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: VPS53 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS53 were set to 30100179; 24577744
Phenotypes for gene: VPS53 were set to Progressive cerebella-cerebral atrophy type 2
DDG2P v1.37 TRRAP Rebecca Foulger gene: TRRAP was added
gene: TRRAP was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TRRAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TRRAP were set to 30827496
Phenotypes for gene: TRRAP were set to Autism and Syndromic Intellectual Disability
Mode of pathogenicity for gene: TRRAP was set to Other - please provide details in the comments
DDG2P v1.37 TRPV6 Rebecca Foulger gene: TRPV6 was added
gene: TRPV6 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TRPV6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRPV6 were set to 29861107
Phenotypes for gene: TRPV6 were set to Transient Neonatal Hyperparathyroidism
DDG2P v1.37 TOP3A Rebecca Foulger gene: TOP3A was added
gene: TOP3A was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: TOP3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOP3A were set to 30193137
Phenotypes for gene: TOP3A were set to Bloom Syndrome like Disorder
DDG2P v1.37 TMEM94 Rebecca Foulger gene: TMEM94 was added
gene: TMEM94 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TMEM94 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM94 were set to 30526868
Phenotypes for gene: TMEM94 were set to Neurodevelopmental Delay Congenital Heart Defects and Distinct Facial Dysmorphism
DDG2P v1.37 SUZ12 Rebecca Foulger gene: SUZ12 was added
gene: SUZ12 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: SUZ12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SUZ12 were set to 30019515; 28229514
Phenotypes for gene: SUZ12 were set to Weaver-like overgrowth syndrome
DDG2P v1.37 SPTBN2 Rebecca Foulger gene: SPTBN2 was added
gene: SPTBN2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: SPTBN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPTBN2 were set to 25981959; 22914369; 29795474
Phenotypes for gene: SPTBN2 were set to SCA14; Infantile ataxia with oculomotor and pyramidal signs
DDG2P v1.37 SOX4 Rebecca Foulger gene: SOX4 was added
gene: SOX4 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SOX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SOX4 were set to 30661772
Phenotypes for gene: SOX4 were set to Neurodevelopmental Disease Associated with Mild Dysmorphism
Mode of pathogenicity for gene: SOX4 was set to Other - please provide details in the comments
DDG2P v1.37 SMARCC2 Rebecca Foulger gene: SMARCC2 was added
gene: SMARCC2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SMARCC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SMARCC2 were set to 30580808
Phenotypes for gene: SMARCC2 were set to Syndromic Intellectual Disability and Developmental Delay
DDG2P v1.37 SIM1 Rebecca Foulger gene: SIM1 was added
gene: SIM1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: SIM1 was set to
Publications for gene: SIM1 were set to 28472148; 23778136; 23778139
Phenotypes for gene: SIM1 were set to Severe obesity with neurobehavioral features
DDG2P v1.37 SEPSECS Rebecca Foulger gene: SEPSECS was added
gene: SEPSECS was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: SEPSECS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEPSECS were set to 29464431; 26805434; 26888482
Phenotypes for gene: SEPSECS were set to Pontocerebellar hypoplasia type 2D
DDG2P v1.37 RNF13 Rebecca Foulger gene: RNF13 was added
gene: RNF13 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: RNF13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RNF13 were set to 30595371
Phenotypes for gene: RNF13 were set to Congenital Microcephaly Epileptic Encephalopathy Blindness and Failure to Thrive
Mode of pathogenicity for gene: RNF13 was set to Other - please provide details in the comments
DDG2P v1.37 RMI1 Rebecca Foulger gene: RMI1 was added
gene: RMI1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: RMI1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RMI1 were set to 30193137
Phenotypes for gene: RMI1 were set to Bloom Syndrome like Disorder
DDG2P v1.37 RHOBTB2 Rebecca Foulger gene: RHOBTB2 was added
gene: RHOBTB2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: RHOBTB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RHOBTB2 were set to 29276004
Phenotypes for gene: RHOBTB2 were set to Developmental and Epileptic Encephalopathy
Mode of pathogenicity for gene: RHOBTB2 was set to Other - please provide details in the comments
DDG2P v1.37 PUS7 Rebecca Foulger gene: PUS7 was added
gene: PUS7 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PUS7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PUS7 were set to 30526862
Phenotypes for gene: PUS7 were set to Intellectual Disability with Speech Delay Microcephaly Short Stature and Aggressive Behavior
DDG2P v1.37 PRR12 Rebecca Foulger gene: PRR12 was added
gene: PRR12 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PRR12 was set to
Publications for gene: PRR12 were set to 29556724; 26163108
Phenotypes for gene: PRR12 were set to Intellectual disability and iris abnormalities
DDG2P v1.37 PPP2CA Rebecca Foulger gene: PPP2CA was added
gene: PPP2CA was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PPP2CA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PPP2CA were set to 30595372
Phenotypes for gene: PPP2CA were set to Syndromic Intellectual Disability Resembling Other PP2A Related Neurodevelopmental Disorders
DDG2P v1.37 PMPCB Rebecca Foulger gene: PMPCB was added
gene: PMPCB was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PMPCB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PMPCB were set to 29576218
Phenotypes for gene: PMPCB were set to Neurodegeneration in Early Childhood
Mode of pathogenicity for gene: PMPCB was set to Other - please provide details in the comments
DDG2P v1.37 PIGS Rebecca Foulger gene: PIGS was added
gene: PIGS was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
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 Neurological Syndrome Fetal Akinesia /Epileptic Encephalopathy
DDG2P v1.37 PAK1 Rebecca Foulger gene: PAK1 was added
gene: PAK1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PAK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PAK1 were set to 30290153
Phenotypes for gene: PAK1 were set to Neurodevelopmental Disorder
Mode of pathogenicity for gene: PAK1 was set to Other - please provide details in the comments
DDG2P v1.37 NPR3 Rebecca Foulger gene: NPR3 was added
gene: NPR3 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: NPR3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPR3 were set to 30032985
Phenotypes for gene: NPR3 were set to Enhanced Growth and Connective Tissue Abnormalities
DDG2P v1.37 NDUFB8 Rebecca Foulger gene: NDUFB8 was added
gene: NDUFB8 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: NDUFB8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFB8 were set to 29429571
Phenotypes for gene: NDUFB8 were set to MITOCHONDRIAL COMPLEX I DEFICIENCY, 252010
DDG2P v1.37 NDUFA6 Rebecca Foulger gene: NDUFA6 was added
gene: NDUFA6 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: NDUFA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA6 were set to 30245030
Phenotypes for gene: NDUFA6 were set to Early Onset Isolated Mitochondrial Complex I Deficiency
DDG2P v1.37 NCAPG2 Rebecca Foulger gene: NCAPG2 was added
gene: NCAPG2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: NCAPG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NCAPG2 were set to 30609410
Phenotypes for gene: NCAPG2 were set to Severe Neurodevelopmental Syndrome
Mode of pathogenicity for gene: NCAPG2 was set to Other - please provide details in the comments
DDG2P v1.37 NBEA Rebecca Foulger gene: NBEA was added
gene: NBEA was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: NBEA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NBEA were set to 30269351
Phenotypes for gene: NBEA were set to NBEA Neurodevelopment disorder with seizures
DDG2P v1.37 MYF5 Rebecca Foulger gene: MYF5 was added
gene: MYF5 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: MYF5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYF5 were set to 29887215
Phenotypes for gene: MYF5 were set to External Ophthalmoplegia Rib and Vertebral Anomalies
DDG2P v1.37 MRPS2 Rebecca Foulger gene: MRPS2 was added
gene: MRPS2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: MRPS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPS2 were set to 29576219
Phenotypes for gene: MRPS2 were set to Sensorineural Hearing Loss Hypoglycemia and Multiple OXPHOS Complex Deficiencies
Mode of pathogenicity for gene: MRPS2 was set to Other - please provide details in the comments
DDG2P v1.37 MED13 Rebecca Foulger gene: MED13 was added
gene: MED13 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: MED13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MED13 were set to 29740699
Phenotypes for gene: MED13 were set to MED13 - Neurodevelopment disorder
DDG2P v1.37 MAPK8IP3 Rebecca Foulger gene: MAPK8IP3 was added
gene: MAPK8IP3 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: MAPK8IP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAPK8IP3 were set to 30612693
Phenotypes for gene: MAPK8IP3 were set to Intellectual Disability with Variable Brain Anomalies
DDG2P v1.37 MACF1 Rebecca Foulger gene: MACF1 was added
gene: MACF1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: MACF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MACF1 were set to 30471716
Phenotypes for gene: MACF1 were set to Defects in Neuronal Migration and Axon Guidance
Mode of pathogenicity for gene: MACF1 was set to Other - please provide details in the comments
DDG2P v1.37 LNPK Rebecca Foulger gene: LNPK was added
gene: LNPK was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: LNPK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LNPK were set to 30032983
Phenotypes for gene: LNPK were set to Recessive Neurodevelopmental Syndrome
DDG2P v1.37 IRF2BPL Rebecca Foulger gene: IRF2BPL was added
gene: IRF2BPL was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: IRF2BPL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: IRF2BPL were set to 30193138
Phenotypes for gene: IRF2BPL were set to Neurological Phenotypes
DDG2P v1.37 GAS2L2 Rebecca Foulger gene: GAS2L2 was added
gene: GAS2L2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: GAS2L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GAS2L2 were set to 30665704
Phenotypes for gene: GAS2L2 were set to Impaired Cilia Orientation and Mucociliary Clearance
DDG2P v1.37 FUT8 Rebecca Foulger gene: FUT8 was added
gene: FUT8 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: FUT8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FUT8 were set to 29304374
Phenotypes for gene: FUT8 were set to Congenital Disorder of Glycosylation with Defective Fucosylation
DDG2P v1.37 FUK Rebecca Foulger gene: FUK was added
gene: FUK was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: FUK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FUK were set to 30503518
Phenotypes for gene: FUK were set to CONGENITAL DISORDER OF GLYCOSYLATION
Mode of pathogenicity for gene: FUK was set to Other - please provide details in the comments
DDG2P v1.37 FDFT1 Rebecca Foulger gene: FDFT1 was added
gene: FDFT1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: FDFT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FDFT1 were set to 29909962
Phenotypes for gene: FDFT1 were set to Defect in Cholesterol Biosynthesis
DDG2P v1.37 EXTL3 Rebecca Foulger gene: EXTL3 was added
gene: EXTL3 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: EXTL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXTL3 were set to 28132690
Phenotypes for gene: EXTL3 were set to Neuro immuno skeletal Dysplasia Syndrome
Mode of pathogenicity for gene: EXTL3 was set to Other - please provide details in the comments
DDG2P v1.37 EXOSC9 Rebecca Foulger gene: EXOSC9 was added
gene: EXOSC9 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: EXOSC9 was set to
Publications for gene: EXOSC9 were set to 29727687
Phenotypes for gene: EXOSC9 were set to Cerebellar Atrophy with Spinal Motor Neuronopathy
DDG2P v1.37 EPRS Rebecca Foulger gene: EPRS was added
gene: EPRS was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: EPRS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPRS were set to 29576217
Phenotypes for gene: EPRS were set to Hypomyelinating Leukodystrophy
DDG2P v1.37 DNAH9 Rebecca Foulger gene: DNAH9 was added
gene: DNAH9 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: DNAH9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAH9 were set to 30471717; 30471718
Phenotypes for gene: DNAH9 were set to Motile Cilia Defects and Situs Inversus
DDG2P v1.37 DHPS Rebecca Foulger gene: DHPS was added
gene: DHPS was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: DHPS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHPS were set to 30661771
Phenotypes for gene: DHPS were set to Neurodevelopmental Disorder of Hypusination
Mode of pathogenicity for gene: DHPS was set to Other - please provide details in the comments
DDG2P v1.37 CNPY3 Rebecca Foulger gene: CNPY3 was added
gene: CNPY3 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CNPY3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CNPY3 were set to 29394991
Phenotypes for gene: CNPY3 were set to EARLY ONSET EPILEPTIC ENCEPHALOPATHY
DDG2P v1.37 C11orf70 Rebecca Foulger gene: C11orf70 was added
gene: C11orf70 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: C11orf70 was set to
Publications for gene: C11orf70 were set to 29727693; 29727692
Phenotypes for gene: C11orf70 were set to PRIMARY CILIARY DYSKINESIA
DDG2P v1.37 CCNK Rebecca Foulger gene: CCNK was added
gene: CCNK was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: CCNK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CCNK were set to 30122539
Phenotypes for gene: CCNK were set to Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism
DDG2P v1.37 CCDC47 Rebecca Foulger gene: CCDC47 was added
gene: CCDC47 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CCDC47 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC47 were set to 30401460
Phenotypes for gene: CCDC47 were set to Woolly Hair Liver Dysfunction Dysmorphic Features and Global Developmental Delay
DDG2P v1.37 CARS Rebecca Foulger gene: CARS was added
gene: CARS was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CARS were set to 30824121
Phenotypes for gene: CARS were set to Microcephaly Developmental Delay and Brittle Hair and Nails
DDG2P v1.37 ATP6V1E1 Rebecca Foulger gene: ATP6V1E1 was added
gene: ATP6V1E1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ATP6V1E1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP6V1E1 were set to 28065471
Phenotypes for gene: ATP6V1E1 were set to Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal Recessive Cutis Laxa
Mode of pathogenicity for gene: ATP6V1E1 was set to Other - please provide details in the comments
DDG2P v1.37 ATP6V1A Rebecca Foulger gene: ATP6V1A was added
gene: ATP6V1A was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ATP6V1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP6V1A were set to 28065471
Phenotypes for gene: ATP6V1A were set to Autosomal Recessive Cutis Laxa
Mode of pathogenicity for gene: ATP6V1A was set to Other - please provide details in the comments
DDG2P v1.37 ATP5D Rebecca Foulger gene: ATP5D was added
gene: ATP5D was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ATP5D was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP5D were set to 29478781
Phenotypes for gene: ATP5D were set to ATP5F1D metabolic disorder
Mode of pathogenicity for gene: ATP5D was set to Other - please provide details in the comments
DDG2P v1.37 ATP1A1 Rebecca Foulger gene: ATP1A1 was added
gene: ATP1A1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ATP1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATP1A1 were set to 30388404
Phenotypes for gene: ATP1A1 were set to Renal Hypomagnesemia Refractory Seizures and Intellectual Disability
Mode of pathogenicity for gene: ATP1A1 was set to Other - please provide details in the comments
DDG2P v1.37 ATN1 Rebecca Foulger gene: ATN1 was added
gene: ATN1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ATN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATN1 were set to 30827498
Phenotypes for gene: ATN1 were set to congenital hypotonia, epilepsy, developmental delay, digit abnormalities
Mode of pathogenicity for gene: ATN1 was set to Other - please provide details in the comments
DDG2P v1.37 ARL3 Rebecca Foulger gene: ARL3 was added
gene: ARL3 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ARL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARL3 were set to 30269812
Phenotypes for gene: ARL3 were set to JOUBERT SYNDROME, 614615
Mode of pathogenicity for gene: ARL3 was set to Other - please provide details in the comments
DDG2P v1.37 ADPRHL2 Rebecca Foulger gene: ADPRHL2 was added
gene: ADPRHL2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ADPRHL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADPRHL2 were set to 30388405; 30401461
Phenotypes for gene: ADPRHL2 were set to Degenerative Pediatric Stress Induced Epileptic Ataxia Syndrome; Neurodegeneration with Developmental Delay Ataxia and Axonal Neuropathy
DDG2P v1.37 ADAMTS9 Rebecca Foulger gene: ADAMTS9 was added
gene: ADAMTS9 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ADAMTS9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS9 were set to 30609407
Phenotypes for gene: ADAMTS9 were set to Nephronophthisis Related Ciliopathy
Mode of pathogenicity for gene: ADAMTS9 was set to Other - please provide details in the comments
Fetal anomalies v0.191 POLR3A Rebecca Foulger Added comment: Comment on phenotypes: Added 'Wiedemann-Rautenstrauch syndrome' to the phenotypes because (based on the OMIM summary) the condition includes intrauterine growth retardation amongst the phenotypes, and is therefore fetally-relevant.
Fetal anomalies v0.191 POLR3A Rebecca Foulger Phenotypes for gene: POLR3A were changed from LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; Autosomal Recessive Wiedemann Rautenstrauch Syndrome, 264090 to LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; Autosomal Recessive Wiedemann Rautenstrauch Syndrome, 264090
Intellectual disability v2.800 SNAP25 Konstantinos Varvagiannis gene: SNAP25 was added
gene: SNAP25 was added to Intellectual disability. Sources: Literature,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: SNAP25 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SNAP25 were set to 29491473; 28135719; 29100083; 25381298; 25003006
Phenotypes for gene: SNAP25 were set to ?Myasthenic syndrome, congenital 18, 616330
Penetrance for gene: SNAP25 were set to Complete
Review for gene: SNAP25 was set to GREEN
gene: SNAP25 was marked as current diagnostic
Added comment: Probably 9 individuals with heterozygous SNAP25 pathogenic variants have been reported to date, most summarized in the first reference (NM_130811.2 used as reference for all variants below):
- Fukuda et al. (2018 - PMID: 29491473) 2 sibs (~11 and 2.5 y.o) with seizures and cerebellar ataxia but not ID. harboring c.176G>C (p.Arg59Pro) variant which was inherited from a mosaic unaffected parent.
- DDD study (2017 - PMID: 28135719) [also in Heyne et al. 2018 - PMID: 29942082] 3 inividuals (11 m - 7 y of age) with DD and seizures due to c.118A>G (p.Lys40Glu), c.127G>C (p.Gly43Arg) and c.520C>T (p.Gln174*) de novo variants.
- Hamdan et al. (2017 - PMID: 29100083) a 23 y.o. male with epilepsy and ID and c.496G>T (p.Asp166Tyr) de novo variant
- Shen et al. (2014 - PMID: 25381298) a 11 y.o. female with epilepsy and ID and c.200T>A (p.Ile67Asn) de novo variant
- Rohena et al. (2013 - PMID: 25003006) a 15 y.o. female with epilepsy and ID and c.142G>T (p.Val48Phe) de novo variant
- Decipher patient 292139, a male with c.212T>C (p.Met71Thr) with hypotonia, DD, poor coordination and additional features (epilepsy not reported).

Seizures of variable type [absence seizures, generalized tonic-clonic (most), focal clonic, myoclonic, etc] have been reported for most (8/9) of these individuals. DD was a feature in several subjects and intellectual outcome has been specifically commented on for 5 (2 without and 3 with ID - moderate/severe/not further specified).

SNAP25 encodes a (t-)SNARE protein essential for synaptic vesicle exocytosis. Mutations in genes for other components of the SNARE complex (eg. STXBP1) have been associated with epilepsy and/or ID.

SNAP25a and SNAP25b are the 2 major protein isoforms [corresponding transcripts: ENST00000304886 (NM_003081) and ENST00000254976 (NM_130811) respectively]. These isoforms are produced by utilization of alternative exons 5 (5a or 5b) though the amino-acid sequence encoded by these exons appears to be identical except for 9 residues. Most variants reported to date affect both transcripts (and protein isoforms) although 2 were specific for ENST00000254976 (or SNAP25b isoform - Fukuda et al. and Shen et al.).

Mouse Snap25 has also 2 isoforms. Both are predominantly localized in embryonic and adult mouse brains. Snap25a is produced before Snap25b though the latter becomes the major isoform early postnatally (by the second week) [PMIDs cited: 7878010, 21526988].

Based on the phenotype of some individuals with chromosome 20 deletions in Decipher (note: only 3 deletions spanning SNAP25 however appear currently, the phenotype is not specified and 2 of them are >4.5Mb) or the pLI of 0.96 in gnomAD, haploinsufficiency has been proposed as a likely mechanism. A dominant-negative effect was however suggested for the Ile67Asn studied by Shen et al. Functional studies have not been performed for other variants.

Animal models discussed:
- Snap25 null drosophila show complete loss of synaptic transmission upon electroretinogram recordings (PMID cited: 12242238).
- In mice, elimination of Snap25b expression resulted in developmental defects, seizures and impaired short-term synaptic plasticity (PMID cited: 19043548).
- Mice with a 4.6 Mb deletion encompassing 12 genes (incl. Snap25) display seizure predisposition (PMID cited: 23064108).
- Heterozygosity for Ile67Thr in (blind-drunk mutant) mice results in impaired vesicle trafficking, impaired sensorimotor gating and ataxia (PMID cited:17283335).

In OMIM, heterozygous SNAP25 mutations are associated with ?Myasthenic syndrome, congenital, 18 (with intellectual disability and ataxia). SNAP25 is part of the DD panel, associated with "Epilepsy and intellectual disability" (disease confidence: probable).

This gene is included in gene panels for ID offered by some diagnostic laboratories (incl. Radboudumc). SNAP25 is among the genes discussed by Erger et al. (PMID: 30914295) as associated with ID in OMIM/HPO/G2P/SysID but not included in the current panel.

As a result SNAP25 can be considered for inclusion in the ID panel probably as green (3 individuals with ID, role of SNARES in "synaptopathies", supportive animal models) or amber (if functional studies for individual variants would be required).
Sources: Literature, Radboud University Medical Center, Nijmegen
Early onset or syndromic epilepsy v1.35 SNAP25 Konstantinos Varvagiannis gene: SNAP25 was added
gene: SNAP25 was added to Genetic epilepsy syndromes. Sources: Literature
Mode of inheritance for gene: SNAP25 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SNAP25 were set to 29491473; 28135719; 29100083; 25381298; 25003006
Phenotypes for gene: SNAP25 were set to ?Myasthenic syndrome, congenital 18, 616330
Penetrance for gene: SNAP25 were set to Complete
Review for gene: SNAP25 was set to GREEN
Added comment: Probably 9 individuals with heterozygous SNAP25 pathogenic variants have been reported to date, most summarized in the first reference (NM_130811.2 used as reference for all variants below):
- Fukuda et al. (2018 - PMID: 29491473) 2 sibs (~11 and 2.5 y.o) with seizures and cerebellar ataxia but not ID. harboring c.176G>C (p.Arg59Pro) variant which was inherited from a mosaic unaffected parent.
- DDD study (2017 - PMID: 28135719) [also in Heyne et al. 2018 - PMID: 29942082] 3 inividuals (11 m - 7 y of age) with DD and seizures due to c.118A>G (p.Lys40Glu), c.127G>C (p.Gly43Arg) and c.520C>T (p.Gln174*) de novo variants.
- Hamdan et al. (2017 - PMID: 29100083) a 23 y.o. male with epilepsy and ID and c.496G>T (p.Asp166Tyr) de novo variant
- Shen et al. (2014 - PMID: 25381298) a 11 y.o. female with epilepsy and ID and c.200T>A (p.Ile67Asn) de novo variant
- Rohena et al. (2013 - PMID: 25003006) a 15 y.o. female with epilepsy and ID and c.142G>T (p.Val48Phe) de novo variant
- Decipher patient 292139, a male with c.212T>C (p.Met71Thr) with hypotonia, DD, poor coordination and additional features (epilepsy not reported).

Seizures of variable type [absence seizures, generalized tonic-clonic (most), focal clonic, myoclonic, etc] have been reported for most (8/9) of these individuals. DD was a feature in several subjects and intellectual outcome has been specifically commented on for 5 (2 without and 3 with ID - moderate/severe/not further specified).

SNAP25 encodes a (t-)SNARE protein essential for synaptic vesicle exocytosis. Mutations in genes for other components of the SNARE complex (eg. STXBP1) have been associated with epilepsy and/or ID.

SNAP25a and SNAP25b are the 2 major protein isoforms [corresponding transcripts: ENST00000304886 (NM_003081) and ENST00000254976 (NM_130811) respectively]. These isoforms are produced by utilization of alternative exons 5 (5a or 5b) though the amino-acid sequence encoded by these exons appears to be identical except for 9 residues. Most variants reported to date affect both transcripts (and protein isoforms) although 2 were specific for ENST00000254976 (or SNAP25b isoform - Fukuda et al. and Shen et al.).

Mouse Snap25 has also 2 isoforms. Both are predominantly localized in embryonic and adult mouse brains. Snap25a is produced before Snap25b though the latter becomes the major isoform early postnatally (by the second week) [PMIDs cited: 7878010, 21526988].

Based on the phenotype of some individuals with chromosome 20 deletions in Decipher (note: only 3 deletions spanning SNAP25 however appear currently, the phenotype is not specified and 2 of them are >4.5Mb) or the pLI of 0.96 in gnomAD, haploinsufficiency has been proposed as a likely mechanism. A dominant-negative effect was however suggested for the Ile67Asn studied by Shen et al. Functional studies have not been performed for other variants.

Animal models discussed:
- Snap25 null drosophila show complete loss of synaptic transmission upon electroretinogram recordings (PMID cited: 12242238).
- In mice, elimination of Snap25b expression resulted in developmental defects, seizures and impaired short-term synaptic plasticity (PMID cited: 19043548).
- Mice with a 4.6 Mb deletion encompassing 12 genes (incl. Snap25) display seizure predisposition (PMID cited: 23064108).
- Heterozygosity for Ile67Thr in (blind-drunk mutant) mice results in impaired vesicle trafficking, impaired sensorimotor gating and ataxia (PMID cited:17283335).

In OMIM, heterozygous SNAP25 mutations are associated with ?Myasthenic syndrome, congenital, 18 (with intellectual disability and ataxia). SNAP25 is part of the DD panel, associated with "Epilepsy and intellectual disability" (disease confidence: probable).

This gene is included in gene panels for ID offered by some diagnostic laboratories (incl. Radboudumc).

As a result SNAP25 can be considered for inclusion in the epilepsy and ID panels as green (or amber).
Sources: Literature
Fetal anomalies v0.190 VPS53 Rebecca Foulger Publications for gene: VPS53 were set to 24577744; 12920088
Fetal anomalies v0.189 VPS53 Rebecca Foulger commented on gene: VPS53: VPS53 was added to the Fetal anomalies panel from the PAGE Additional Gene List (with rating: probable). New gene:disorder association added to DDG2P in March 2019: Progressive cerebella-cerebral atrophy type 2. DDG2P Disease confidence: confirmed. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: biallelic.
Fetal anomalies v0.189 VPS53 Rebecca Foulger Phenotypes for gene: VPS53 were changed from PONTOCEREBELLAR HYPOPLASIA, TYPE 2E 615851 to PONTOCEREBELLAR HYPOPLASIA, TYPE 2E 615851; Progressive cerebella-cerebral atrophy type 2
DDG2P v1.36 NR2F2 Rebecca Foulger Phenotypes for gene: NR2F2 were changed from Congenital heart defects, multiple types, 4, 615779; CONGENITAL HEART DEFECTS and XX sex reversal to CONGENITAL HEART DEFECTS and XX sex reversal
DDG2P v1.35 XYLT1 Rebecca Foulger Publications for gene: XYLT1 were set to 24581741
DDG2P v1.34 XYLT1 Rebecca Foulger commented on gene: XYLT1: Added 'watchlist' tag to highlight different DD-G2P Disease confidence ratings for different disorders: Rated confirmed for DESBUQUOIS DYSPLASIA 2. Rated probable for 'Baratela Scott Syndrome (added to Gene2Phenotype, March 2019).
DDG2P v1.34 XYLT1 Rebecca Foulger commented on gene: XYLT1: New gene:disorder association added to DDG2P in March 2019: Baratela Scott Syndrome. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: cis-regulatory or promotor mutation. DDG2P mode of inheritance: biallelic.
DDG2P v1.34 XYLT1 Rebecca Foulger Tag watchlist tag was added to gene: XYLT1.
DDG2P v1.34 XYLT1 Rebecca Foulger Phenotypes for gene: XYLT1 were changed from DESBUQUOIS DYSPLASIA 2 615777 to DESBUQUOIS DYSPLASIA 2 615777; Baratela Scott Syndrome
DDG2P v1.33 TRAF7 Rebecca Foulger commented on gene: TRAF7: Kept 'watchlist' tag when adding in new DD-G2P gene-disorder from March 2019; although DDG2P has multiple ratings (probable and confirmed), the three disorders are very similar (Developmental Delay Congenital Anomalies and Dysmorphic Features, Developmental Delay, Congenital Anomalies, and Dysmorphic Features, Developmental delay, congenital malformations and dysmorphism).
DDG2P v1.33 TRAF7 Rebecca Foulger Publications for gene: TRAF7 were set to 29961569
DDG2P v1.32 TRAF7 Rebecca Foulger commented on gene: TRAF7: New gene:disorder association added to DDG2P in March 2019: Developmental Delay Congenital Anomalies and Dysmorphic Features. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: all missense/in frame. DDG2P mode of inheritance: monoallelic.
DDG2P v1.32 POLR3A Rebecca Foulger Publications for gene: POLR3A were set to 21855841; 17159124; 22036171; 12605447
DDG2P v1.31 POLR3A Rebecca Foulger Phenotypes for gene: POLR3A were changed from LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM 607694 to Autosomal Recessive Wiedemann Rautenstrauch Syndrome; LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM 607694
DDG2P v1.30 POLR3A Rebecca Foulger commented on gene: POLR3A: New gene:disorder association added to DDG2P in March 2019: Autosomal Recessive Wiedemann Rautenstrauch Syndrome. DDG2P Disease confidence: confirmed. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: biallelic.
Fetal anomalies v0.188 PCGF2 Rebecca Foulger Tag watchlist tag was added to gene: PCGF2.
Fetal anomalies v0.188 PCGF2 Rebecca Foulger commented on gene: PCGF2: Added 'watchlist' tag to reflect multiple Disease confidence ratings for different disorders in Gene2Phenotype: Rated probable for INTELLECTUAL DUSBILITY. Rated confirmed for Craniofacial Neurological Cardiovascular and Skeletal.
Fetal anomalies v0.188 PCGF2 Rebecca Foulger commented on gene: PCGF2: New gene:disorder association added to DDG2P in March 2019: Craniofacial Neurological Cardiovascular and Skeletal Features. DDG2P Disease confidence: confirmed. DDG2P mode of pathogenicity/mutation consequence: all missense/in frame. DDG2P mode of inheritance: monoallelic.
Fetal anomalies v0.188 PCGF2 Rebecca Foulger Publications for gene: PCGF2 were set to
Fetal anomalies v0.187 PCGF2 Rebecca Foulger Phenotypes for gene: PCGF2 were changed from INTELLECTUAL DUSBILITY to INTELLECTUAL DUSBILITY; Craniofacial Neurological Cardiovascular and Skeletal Features
DDG2P v1.30 PCGF2 Rebecca Foulger commented on gene: PCGF2: Added 'watchlist' tag to reflect multiple Disease confidence ratings for different disorders in Gene2Phenotype: Rated probable for INTELLECTUAL DUSBILITY. Rated confirmed for Craniofacial Neurological Cardiovascular and Skeletal.
DDG2P v1.30 PCGF2 Rebecca Foulger Tag watchlist tag was added to gene: PCGF2.
DDG2P v1.30 PCGF2 Rebecca Foulger Classified gene: PCGF2 as Green List (high evidence)
DDG2P v1.30 PCGF2 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green to reflect 'confirmed' disorder added to Gene2Phenotype in March 2019 (Craniofacial Neurological Cardiovascular and Skeletal).
DDG2P v1.30 PCGF2 Rebecca Foulger Gene: pcgf2 has been classified as Green List (High Evidence).
DDG2P v1.29 PCGF2 Rebecca Foulger commented on gene: PCGF2: New gene:disorder association added to DDG2P in March 2019: Craniofacial Neurological Cardiovascular and Skeletal Features. DDG2P Disease confidence: confirmed. DDG2P mode of pathogenicity/mutation consequence: all missense/in frame. DDG2P mode of inheritance: monoallelic.
DDG2P v1.29 PCGF2 Rebecca Foulger Phenotypes for gene: PCGF2 were changed from INTELLECTUAL DUSBILITY to INTELLECTUAL DUSBILITY; Craniofacial Neurological Cardiovascular and Skeletal Features
DDG2P v1.28 PACS2 Rebecca Foulger Publications for gene: PACS2 were set to 28867141
DDG2P v1.27 PACS2 Rebecca Foulger Classified gene: PACS2 as Amber List (moderate evidence)
DDG2P v1.27 PACS2 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber to reflect new DDG2P Disease confidence rating of probable for 'Unspecified Neurodevelopmental Disorder (the previous rating was 'possible').
DDG2P v1.27 PACS2 Rebecca Foulger Gene: pacs2 has been classified as Amber List (Moderate Evidence).
DDG2P v1.26 NFIB Rebecca Foulger Phenotypes for gene: NFIB were changed from Intellectual disability with macrocephaly to Intellectual disability with macrocephaly; Intellectual Disability and Macrocephaly
DDG2P v1.25 NFIB Rebecca Foulger commented on gene: NFIB: New gene:disorder association added to DDG2P in March 2019: Intellectual Disability and Macrocephaly. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: monoallelic. Note that at the time of curation, the existing disorder 'Intellectual Disability and macrocephaly' exists in DD-G2P as a separate entry.
DDG2P v1.25 MYH3 Rebecca Foulger Added comment: Comment on mode of inheritance: Although the newly-added disorder (Recessive Spondylocarpotarsal Synostosis Syndrome) has a biallelic MOI, I have kept the PanelApp MOI as 'monoallelic' to reflect the confirmed disease ratings (for DISTAL ARTHROGRYPOSIS TYPE 2A 193700 and DISTAL ARTHROGRYPOSIS TYPE 2B.
DDG2P v1.25 MYH3 Rebecca Foulger Mode of inheritance for gene: MYH3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v1.24 MYH3 Rebecca Foulger commented on gene: MYH3: Added 'watchlist' tag to reflect multiple ratings for different G2P disorders: confirmed for DISTAL ARTHROGRYPOSIS TYPE 2A, confirmed for DISTAL ARTHROGRYPOSIS TYPE 2B, probable for Recessive Spondylocarpotarsal Synostosis Syndrome (added to G2P in March 2019). Kept rating as Green to reflect highest Disease Confidence.
DDG2P v1.24 MYH3 Rebecca Foulger commented on gene: MYH3: New gene:disorder association added to DDG2P in March 2019: Recessive Spondylocarpotarsal Synostosis Syndrome. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: biallelic.
DDG2P v1.24 MYH3 Rebecca Foulger Tag watchlist tag was added to gene: MYH3.
DDG2P v1.24 MYH3 Rebecca Foulger Publications for gene: MYH3 were set to 16642020
DDG2P v1.23 MYH3 Rebecca Foulger Phenotypes for gene: MYH3 were changed from DISTAL ARTHROGRYPOSIS TYPE 2A 193700; DISTAL ARTHROGRYPOSIS TYPE 2B 601680 to DISTAL ARTHROGRYPOSIS TYPE 2A 193700; DISTAL ARTHROGRYPOSIS TYPE 2B 601680; Recessive Spondylocarpotarsal Synostosis Syndrome
DDG2P v1.22 LRRC56 Rebecca Foulger commented on gene: LRRC56: Curated updates to DD-G2P from March 2019 for 'Mucociliary Clearance and Laterality Defects'. Allelic requirement is now biallelic. Mutation consequence is now 'loss of function'. The Disease confidence rating remains as probable.
DDG2P v1.22 LRRC56 Rebecca Foulger Added comment: Comment on mode of inheritance: Added biallelic MOI to reflect the updated MOI in DD-G2P for Mucociliary Clearance and Laterality Defects (previously the MOI was missing).
DDG2P v1.22 LRRC56 Rebecca Foulger Mode of inheritance for gene: LRRC56 was changed from to BIALLELIC, autosomal or pseudoautosomal
DDG2P v1.21 LRRC56 Rebecca Foulger Publications for gene: LRRC56 were set to
DDG2P v1.20 KCNK4 Rebecca Foulger Classified gene: KCNK4 as Amber List (moderate evidence)
DDG2P v1.20 KCNK4 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber to reflect 'probable' disease confidence for 'Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth' added to DD-G2P in March 2019.
DDG2P v1.20 KCNK4 Rebecca Foulger Gene: kcnk4 has been classified as Amber List (Moderate Evidence).
DDG2P v1.19 KCNK4 Rebecca Foulger commented on gene: KCNK4: Added 'watchlist' tag to highlight different DDG2P Disease confidence ratings for different disorders: Probable for Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth (with all missense/in frame MOP). Possible for FHEIG (facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth) (with activating MOP).
DDG2P v1.19 KCNK4 Rebecca Foulger Tag watchlist tag was added to gene: KCNK4.
DDG2P v1.19 KCNK4 Rebecca Foulger commented on gene: KCNK4: New gene:disorder association added to DDG2P in March 2019: Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: all missense/in frame. DDG2P mode of inheritance: monoallelic.
DDG2P v1.19 KCNK4 Rebecca Foulger Phenotypes for gene: KCNK4 were changed from FHEIG (facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth) to FHEIG (facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth); Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth
DDG2P v1.18 FBXO11 Rebecca Foulger commented on gene: FBXO11: Added 'watchlist' tag to highlight different Disease confidence ratings in DD-G2P for different disorders: Rated 'possible' for FBXO11 related intellectual disability. Rated 'confirmed' for Variable Neurodevelopmental Disorder. Both disorders have monoallelic MOI and 'loss of function' MOP.
DDG2P v1.18 FBXO11 Rebecca Foulger Tag watchlist tag was added to gene: FBXO11.
DDG2P v1.18 FBXO11 Rebecca Foulger Classified gene: FBXO11 as Green List (high evidence)
DDG2P v1.18 FBXO11 Rebecca Foulger Added comment: Comment on list classification: Changed rating from Red to Green to reflect new 'confirmed' gene-disorder association added to DD-G2P in March 2019: Variable Neurodevelopmental Disorder.
DDG2P v1.18 FBXO11 Rebecca Foulger Gene: fbxo11 has been classified as Green List (High Evidence).
DDG2P v1.17 FBXO11 Rebecca Foulger Phenotypes for gene: FBXO11 were changed from FBXO11 related intellectual disability to FBXO11 related intellectual disability; Variable Neurodevelopmental Disorder
DDG2P v1.16 FBXO11 Rebecca Foulger commented on gene: FBXO11: New gene:disorder association added to DDG2P in March 2019: Variable Neurodevelopmental Disorder. DDG2P Disease confidence: confirmed. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: monoallelic.
DDG2P v1.16 DSTYK Rebecca Foulger Publications for gene: DSTYK were set to 23862974
DDG2P v1.15 DSTYK Rebecca Foulger Phenotypes for gene: DSTYK were changed from CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1 610805 to CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1 610805; Autosomal Recessive Complicated Spastic Paraparesis SPG23
DDG2P v1.14 DSTYK Rebecca Foulger commented on gene: DSTYK: Added 'watchlist' tag to highlight different Disease confidence ratings in DD-G2P: Confirmed for CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1. Probable for Autosomal Recessive Complicated Spastic Paraparesis SPG23 (Added to G2P in March 2019).
DDG2P v1.14 DSTYK Rebecca Foulger Tag watchlist tag was added to gene: DSTYK.
DDG2P v1.14 DSTYK Rebecca Foulger commented on gene: DSTYK: Multiple MOIs in Gene2Phenotype: 'monoallelic' for CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1, and 'biallelic' for Autosomal Recessive Complicated Spastic Paraparesis SPG23. Kept MOI in PanelApp as 'monoallelic' because 'CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1' is 'confirmed', and Autosomal Recessive Complicated Spastic Paraparesis SPG23 is 'probable'.
DDG2P v1.14 DSTYK Rebecca Foulger commented on gene: DSTYK: New gene:disorder association added to DDG2P in March 2019: Autosomal Recessive Complicated Spastic Paraparesis SPG23. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: biallelic.
DDG2P v1.14 COG4 Rebecca Foulger commented on gene: COG4: New gene:disorder association added to DDG2P in March 2019: Saul-Wilson syndrome. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: all missense/in frame. DDG2P mode of inheritance: monoallelic. (Note that Saul-Wilson syndrome disorder was already associated with COG4 in DD-G2P but with a 'gain of function' MOP. The new entry exists in addition).
DDG2P v1.14 CLCN4 Rebecca Foulger Classified gene: CLCN4 as Amber List (moderate evidence)
DDG2P v1.14 CLCN4 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber to reflect change in DD-G2P Disease confidence for INFANTILE EPILEPTIC ENCEPHALOPATHY AND/OR INTELLECTUAL DISABILITY (was 'Possible', now 'Probable').
DDG2P v1.14 CLCN4 Rebecca Foulger Gene: clcn4 has been classified as Amber List (Moderate Evidence).
DDG2P v1.13 CLCN4 Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from monoallelic to hemizygous to match new Allelic requirement in DD-G2P for the disorder INFANTILE EPILEPTIC ENCEPHALOPATHY AND/OR INTELLECTUAL DISABILITY. The hemizygous MOI is consistent with CLCN4 on other PanelApp panels.
DDG2P v1.13 CLCN4 Rebecca Foulger Mode of inheritance for gene: CLCN4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v1.12 CACNA1E Rebecca Foulger Classified gene: CACNA1E as Green List (high evidence)
DDG2P v1.12 CACNA1E Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green based on new 'confirmed' gene-disease association added to DD-G2P in March 2019: Developmental and Epileptic Encephalopathy with Contractures Macrocephaly and Dyskinesias. At the time of curation, the existing disorder (Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesia) still has the DD-G2P Disease confidence of 'possible'.
DDG2P v1.12 CACNA1E Rebecca Foulger Gene: cacna1e has been classified as Green List (High Evidence).
DDG2P v1.11 CACNA1E Rebecca Foulger commented on gene: CACNA1E: New gene:disorder association added to DDG2P in March 2019: Developmental and Epileptic Encephalopathy with Contractures Macrocephaly and Dyskinesias. DDG2P Disease confidence: confirmed. DDG2P mode of pathogenicity/mutation consequence: activating. DDG2P mode of inheritance: monoallelic.
Fetal anomalies v0.186 C5orf42 Rebecca Foulger edited their review of gene: C5orf42: Added comment: Additional evidence from PMID:30712878: Homozgyous variant identified in C5orf42 (called CPLANE1 in Table 1) from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878
Fetal anomalies v0.186 TSC2 Rebecca Foulger edited their review of gene: TSC2: Added comment: Additional evidence from PMID:30712878: De novo variants identified in TSC2 from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878
Fetal anomalies v0.186 RERE Rebecca Foulger edited their review of gene: RERE: Added comment: Additional evidence from PMID:30712878: De novo variant identified in RERE from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878
Fetal anomalies v0.186 RASA1 Rebecca Foulger edited their review of gene: RASA1: Added comment: Additional evidence from PMID:30712878: Maternally inherited variant identified in RASA1 from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878
Fetal anomalies v0.186 FLVCR2 Rebecca Foulger edited their review of gene: FLVCR2: Added comment: Additional evidence from PMID:30712878: Compound heterozygous variants identified in FLVCR2 from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878
Fetal anomalies v0.186 ARMC9 Rebecca Foulger edited their review of gene: ARMC9: Added comment: Additional evidence from PMID:30712878: Homozygous variant identified in ARMC9 from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878
Fetal anomalies v0.186 PKD2 Rebecca Foulger edited their review of gene: PKD2: Added comment: Additional evidence from PMID:30712878: Maternally inherited variant identified in PKD2 from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878
Fetal anomalies v0.186 ACTG2 Rebecca Foulger edited their review of gene: ACTG2: Added comment: Additional evidence from PMID:30712878: De novo variant identified in ACTG2 from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878
Fetal anomalies v0.186 L1CAM Rebecca Foulger edited their review of gene: L1CAM: Added comment: Additional evidence from PMID:30712878: Hemizgous variant identified in L1CAM in male fetus from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878
Fetal anomalies v0.186 FLNB Rebecca Foulger edited their review of gene: FLNB: Added comment: Additional evidence from PMID:30712878: De novo variant identified in FLNB from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878
Fetal anomalies v0.186 FLNA Rebecca Foulger edited their review of gene: FLNA: Added comment: Additional evidence from PMID:30712878: De novo variant identified in FLNA from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878
Fetal anomalies v0.186 FGFR3 Rebecca Foulger edited their review of gene: FGFR3: Added comment: Additional evidence from PMID:30712878: De novo variants identified in FGFR3 from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878
Fetal anomalies v0.186 COL2A1 Rebecca Foulger edited their review of gene: COL2A1: Added comment: Additional evidence from PMID:30712878: De novo variant identified in COL2A1 from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878
Fetal anomalies v0.186 TMEM67 Rebecca Foulger edited their review of gene: TMEM67: Added comment: Additional evidence from PMID:30712878: Homozygous variant identified in TMEM67 from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878
Fetal anomalies v0.186 SOS1 Rebecca Foulger edited their review of gene: SOS1: Added comment: Additional evidence from PMID:30712878: Paternal inherited variant identified in SOS1 from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878
Fetal anomalies v0.186 RIT1 Rebecca Foulger edited their review of gene: RIT1: Added comment: Additional evidence from PMID:30712878: De novo variant identified in RIT1 from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878
Fetal anomalies v0.186 RAPSN Rebecca Foulger edited their review of gene: RAPSN: Added comment: Additional evidence from PMID:30712878: Compound heterozygous variants identified in RAPSN from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878
Fetal anomalies v0.186 KMT2D Rebecca Foulger edited their review of gene: KMT2D: Added comment: Additional evidence from PMID:30712878: De novo variant identified in KMT2D from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878
Fetal anomalies v0.186 COL4A1 Rebecca Foulger edited their review of gene: COL4A1: Added comment: Additional evidence from PMID:30712878: De novo variant identified in COL4A1 from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878
Fetal anomalies v0.185 WDR19 Rebecca Foulger edited their review of gene: WDR19: Added comment: Additional evidence from PMID:30266093: AR/compound het variant identified in WDR19 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
Fetal anomalies v0.185 TUBA1A Rebecca Foulger edited their review of gene: TUBA1A: Added comment: Additional evidence from PMID:30266093: AD/de novo het variant identified in TUBA1A from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
Fetal anomalies v0.185 TMEM67 Rebecca Foulger edited their review of gene: TMEM67: Added comment: Additional evidence from PMID:30266093: AR/compound het variant identified in TMEM67 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
Fetal anomalies v0.185 SOS1 Rebecca Foulger edited their review of gene: SOS1: Added comment: Additional evidence from PMID:30266093: AD/de novo het variant identified in SOS1 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
Fetal anomalies v0.185 RYR1 Rebecca Foulger edited their review of gene: RYR1: Added comment: Additional evidence from PMID:30266093: AR/compound het variant identified in RYR1 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
Fetal anomalies v0.185 RIT1 Rebecca Foulger edited their review of gene: RIT1: Added comment: Additional evidence from PMID:30266093: AD/de novo het variant identified in RIT1 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
Fetal anomalies v0.185 RAPSN Rebecca Foulger edited their review of gene: RAPSN: Added comment: Additional evidence from PMID:30266093: AR/homozygous variant identified in RAPSN from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
Fetal anomalies v0.185 PTPN11 Rebecca Foulger edited their review of gene: PTPN11: Added comment: Additional evidence from PMID:30266093: AD/de novo mosaic variant and AD/de novo het variant identified in PTPN11 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
Fetal anomalies v0.185 PKD1L1 Rebecca Foulger edited their review of gene: PKD1L1: Added comment: Additional evidence from PMID:30266093: AR/homozygous variant identified in PKD1L1 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
Fetal anomalies v0.185 PEX1 Rebecca Foulger edited their review of gene: PEX1: Added comment: Additional evidence from PMID:30266093: AR/comound het variant identified in PEX1 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
Fetal anomalies v0.185 P3H1 Rebecca Foulger edited their review of gene: P3H1: Added comment: Additional evidence from PMID:30266093: AR/homozygous variant identified in P3H1 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
Fetal anomalies v0.185 NIPBL Rebecca Foulger edited their review of gene: NIPBL: Added comment: Additional evidence from PMID:30266093: AD/de novo het variant identified in NIPBL from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
Fetal anomalies v0.185 MYH3 Rebecca Foulger edited their review of gene: MYH3: Added comment: Additional evidence from PMID:30266093: AD/inherited het (mosaic mother) variant identified in MYH3 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
Fetal anomalies v0.185 MID1 Rebecca Foulger edited their review of gene: MID1: Added comment: Additional evidence from PMID:30266093: XL/hemizyogus (inherited from mildly affected mother) variant identified in MID1 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
Fetal anomalies v0.185 LAMC3 Rebecca Foulger edited their review of gene: LAMC3: Added comment: Additional evidence from PMID:30266093: AR/compound het variant identified in LAMC3 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
Fetal anomalies v0.185 KRAS Rebecca Foulger edited their review of gene: KRAS: Added comment: Additional evidence from PMID:30266093: AD/de novo het variant identified in KRAS from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
Fetal anomalies v0.185 KMT2D Rebecca Foulger edited their review of gene: KMT2D: Added comment: Additional evidence from PMID:30266093: AD/de novo het, and AD/het variants identified in KMT2D from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
Fetal anomalies v0.185 IFT80 Rebecca Foulger edited their review of gene: IFT80: Added comment: Additional evidence from PMID:30266093: AR/homozygous variant identified in IFT80 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
Fetal anomalies v0.185 GLI3 Rebecca Foulger edited their review of gene: GLI3: Added comment: Additional evidence from PMID:30266093: AD/de novo het variant identified in GLI3 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
Fetal anomalies v0.185 FBN1 Rebecca Foulger edited their review of gene: FBN1: Added comment: Additional evidence from PMID:30266093: AD/de novo het variant identified in FBN1 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
Fetal anomalies v0.185 DYNC2H1 Rebecca Foulger edited their review of gene: DYNC2H1: Added comment: Additional evidence from PMID:30266093: AR/compound het variant identified in DYNC2H1 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
Fetal anomalies v0.185 DVL1 Rebecca Foulger edited their review of gene: DVL1: Added comment: Additional evidence from PMID:30266093: AD/de novo het variant identified in DVL1 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
Fetal anomalies v0.185 COL4A1 Rebecca Foulger edited their review of gene: COL4A1: Added comment: Additional evidence from PMID:30266093: AD/inherited het (mosaic mother) variant identified in COL4A1 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
Fetal anomalies v0.185 COL1A2 Rebecca Foulger edited their review of gene: COL1A2: Added comment: Additional evidence from PMID:30266093: AD/de novo het variant identified in COL1A2 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
Fetal anomalies v0.185 COL1A1 Rebecca Foulger edited their review of gene: COL1A1: Added comment: Additional evidence from PMID:30266093: AD/de novo het variant identified in COL1A1 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
Fetal anomalies v0.185 COL11A1 Rebecca Foulger edited their review of gene: COL11A1: Added comment: Additional evidence from PMID:30266093: AD/de novo het variant identified in COL11A1 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
Fetal anomalies v0.185 CHRNG Rebecca Foulger edited their review of gene: CHRNG: Added comment: Additional evidence from PMID:30266093: AR/compound het variant identified in CHRNG from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
Fetal anomalies v0.185 C5orf42 Rebecca Foulger edited their review of gene: C5orf42: Added comment: Additional evidence from PMID:30266093: AR/compound het variant identified in C5orf42 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
Fetal anomalies v0.185 AR Rebecca Foulger edited their review of gene: AR: Added comment: Additional evidence from PMID:30266093: XL/hemizygous (maternally inherited) variant identified in AR from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
Fetal anomalies v0.185 ALG12 Rebecca Foulger edited their review of gene: ALG12: Added comment: Additional evidence from PMID:30266093: AR/compound het variant identified in ALG12 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
Fetal anomalies v0.185 ADGRG6 Rebecca Foulger edited their review of gene: ADGRG6: Added comment: Additional evidence from PMID:30266093: AR/homozygous het variant identified in ADGRG6 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
Fetal anomalies v0.184 IFITM5 Rebecca Foulger edited their review of gene: IFITM5: Added comment: Additional evidence from PMID:29595812: De novovariant identified in IFITM5 from fetal exome sequencing in Chandler et al., 2018 (Rapid diagnosis of fetal skeletal dysplasia using targeted exome sequencing, PMID:29595812).; Changed publications: 29595812
Fetal anomalies v0.184 COL1A1 Rebecca Foulger edited their review of gene: COL1A1: Added comment: Additional evidence from PMID:29595812:Variants identified in COL1A1 from fetal exome sequencing in Chandler et al., 2018 (Rapid diagnosis of fetal skeletal dysplasia using targeted exome sequencing, PMID:29595812). In one case, the variant is reported as a paternally-inherited VUS where no molecular diagnosis was made. In three cases the variants were De novo.; Changed publications: 29595812
Fetal anomalies v0.184 GDF5 Rebecca Foulger edited their review of gene: GDF5: Added comment: Additional evidence from PMID:29595812:Maternally-inherited variant (VUS) identified in GDF5 from fetal exome sequencing in Chandler et al., 2018 (Rapid diagnosis of fetal skeletal dysplasia using targeted exome sequencing, PMID:29595812). No molecular diagnosis made.; Changed publications: 29595812
Fetal anomalies v0.184 RECQL4 Rebecca Foulger edited their review of gene: RECQL4: Added comment: Additional evidence from PMID:29595812:AR maternal variant identified in RECQL4 from fetal exome sequencing in Chandler et al., 2018 (Rapid diagnosis of fetal skeletal dysplasia using targeted exome sequencing, PMID:29595812). No molecular diagnosis confirmed- single mutation in AR/recessive gene, suggestive of Baller-Gerold syndrome.; Changed publications: 29595812
Fetal anomalies v0.184 FGFR3 Rebecca Foulger edited their review of gene: FGFR3: Added comment: Additional evidence from PMID:29595812:De novo variant identified in FGFR3 from fetal exome sequencing in Chandler et al., 2018 (Rapid diagnosis of fetal skeletal dysplasia using targeted exome sequencing, PMID:29595812).; Changed publications: 29595812
Fetal anomalies v0.184 EBP Rebecca Foulger edited their review of gene: EBP: Added comment: Additional evidence from PMID:29595812:De novo variant identified in EBP from fetal exome sequencing in Chandler et al., 2018 (Rapid diagnosis of fetal skeletal dysplasia using targeted exome sequencing, PMID:29595812).; Changed publications: 29595812
Fetal anomalies v0.184 WDR34 Rebecca Foulger edited their review of gene: WDR34: Added comment: Additional evidence from PMID:29595812:AR variant identified in WDR34 from fetal exome sequencing in Chandler et al., 2018 (Rapid diagnosis of fetal skeletal dysplasia using targeted exome sequencing, PMID:29595812).; Changed publications: 29595812
Fetal anomalies v0.184 RBM8A Rebecca Foulger edited their review of gene: RBM8A: Added comment: Additional evidence from PMID:29595812:AR variant identified in RBM8A from fetal exome sequencing in Chandler et al., 2018 (Rapid diagnosis of fetal skeletal dysplasia using targeted exome sequencing, PMID:29595812).; Changed publications: 29595812
Fetal anomalies v0.184 P3H1 Rebecca Foulger edited their review of gene: P3H1: Added comment: Additional evidence from PMID:29595812:AR Bi-parental-inherited variant identified in P3H1 from fetal exome sequencing in Chandler et al., 2018 (Rapid diagnosis of fetal skeletal dysplasia using targeted exome sequencing, PMID:29595812).; Changed publications: 29595812
Fetal anomalies v0.184 OBSL1 Rebecca Foulger edited their review of gene: OBSL1: Added comment: Additional evidence from PMID:29595812:AR Biparental-inherited variant identified in OBSL1 from fetal exome sequencing in Chandler et al., 2018 (Rapid diagnosis of fetal skeletal dysplasia using targeted exome sequencing, PMID:29595812).; Changed publications: 29595812
Fetal anomalies v0.184 COL1A2 Rebecca Foulger edited their review of gene: COL1A2: Added comment: Additional evidence from PMID:29595812:AD maternally inherited variant identified in COL1A2 from fetal exome sequencing in Chandler et al., 2018 (Rapid diagnosis of fetal skeletal dysplasia using targeted exome sequencing, PMID:29595812).; Changed publications: 29595812
Fetal anomalies v0.184 ALPL Rebecca Foulger edited their review of gene: ALPL: Added comment: Additional evidence from PMID:29595812:AD maternally inherited variant identified in ALPL from fetal exome sequencing in Chandler et al., 2018 (Rapid diagnosis of fetal skeletal dysplasia using targeted exome sequencing, PMID:29595812).; Changed publications: 29595812
Fetal anomalies v0.183 CHRNG Rebecca Foulger edited their review of gene: CHRNG: Added comment: Additional evidence from PAGE study: Diagnostic Homozygous/Compound heterozygous variants identified in CHRNG from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 RAPSN Rebecca Foulger edited their review of gene: RAPSN: Added comment: Additional evidence from PAGE study: Diagnostic Homozygous variant identified in RAPSN from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 RAB23 Rebecca Foulger edited their review of gene: RAB23: Added comment: Additional evidence from PAGE study: Diagnostic Homozygous variant identified in RAB23 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 EVC2 Rebecca Foulger edited their review of gene: EVC2: Added comment: Additional evidence from PAGE study: Diagnostic Homozygous variant identified in EVC2 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 DNAH11 Rebecca Foulger edited their review of gene: DNAH11: Added comment: Additional evidence from PAGE study: Diagnostic Homozygous variant identified in DNAH11 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 CCDC103 Rebecca Foulger edited their review of gene: CCDC103: Added comment: Additional evidence from PAGE study: Diagnostic Homozygous variant identified in CCDC103 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 B3GLCT Rebecca Foulger edited their review of gene: B3GLCT: Added comment: Additional evidence from PAGE study: Diagnostic Homozgyous variant identified in B3GLCT from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 RIT1 Rebecca Foulger edited their review of gene: RIT1: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variants identified in RIT1 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 PTPN11 Rebecca Foulger edited their review of gene: PTPN11: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variants identified in PTPN11 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 KMT2D Rebecca Foulger edited their review of gene: KMT2D: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variants identified in KMT2D from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 FGFR3 Rebecca Foulger edited their review of gene: FGFR3: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variants identified in FGFR3 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 CHD7 Rebecca Foulger edited their review of gene: CHD7: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variants identified in CHD7 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 ZC4H2 Rebecca Foulger edited their review of gene: ZC4H2: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in ZC4H2 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 TUBB Rebecca Foulger edited their review of gene: TUBB: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in TUBB from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 TFAP2A Rebecca Foulger edited their review of gene: TFAP2A: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in TFAP2A from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 TAB2 Rebecca Foulger edited their review of gene: TAB2: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in TAB2 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 SOX9 Rebecca Foulger edited their review of gene: SOX9: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in SOX9 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 SOS1 Rebecca Foulger edited their review of gene: SOS1: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in SOS1 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 SF3B4 Rebecca Foulger edited their review of gene: SF3B4: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in SF3B4 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 PIK3CA Rebecca Foulger edited their review of gene: PIK3CA: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in PIK3CA from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 NRAS Rebecca Foulger edited their review of gene: NRAS: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in NRAS from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 NR2F2 Rebecca Foulger edited their review of gene: NR2F2: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in NR2F2 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 NIPBL Rebecca Foulger edited their review of gene: NIPBL: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in NIPBL from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 NALCN Rebecca Foulger edited their review of gene: NALCN: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in NALCN from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 MYCN Rebecca Foulger edited their review of gene: MYCN: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in MYCN from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 GATA4 Rebecca Foulger edited their review of gene: GATA4: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in GATA4 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 FLNB Rebecca Foulger edited their review of gene: FLNB: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in FLNB from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 EPHB4 Rebecca Foulger edited their review of gene: EPHB4: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in EPHB4 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 CDKN1C Rebecca Foulger edited their review of gene: CDKN1C: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in CDKN1C from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 BRAF Rebecca Foulger edited their review of gene: BRAF: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in BRAF from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 ARCN1 Rebecca Foulger edited their review of gene: ARCN1: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in ARCN1 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 ANKRD11 Rebecca Foulger edited their review of gene: ANKRD11: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in ANKRD11 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 COL1A1 Rebecca Foulger edited their review of gene: COL1A1: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous varianst identified in COL1A1 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 MID1 Rebecca Foulger edited their review of gene: MID1: Added comment: Additional evidence from PAGE study: Diagnostic Hemizygous variant identified in MID1 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 RYR1 Rebecca Foulger edited their review of gene: RYR1: Added comment: Additional evidence from PAGE study: Diagnostic Compound heterozygous variants identified in RYR1 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 PIEZO1 Rebecca Foulger edited their review of gene: PIEZO1: Added comment: Additional evidence from PAGE study: Diagnostic Compound heterozygous variants identified in PIEZO1 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 DYNC2H1 Rebecca Foulger edited their review of gene: DYNC2H1: Added comment: Additional evidence from PAGE study: Diagnostic Compound heterozygous variants identified in DYNC2H1 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 ACTB Rebecca Foulger edited their review of gene: ACTB: Added comment: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 KMT2A Rebecca Foulger edited their review of gene: KMT2A: Added comment: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 KIAA0586 Rebecca Foulger edited their review of gene: KIAA0586: Added comment: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 ATRX Rebecca Foulger edited their review of gene: ATRX: Added comment: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 MBTPS2 Rebecca Foulger edited their review of gene: MBTPS2: Added comment: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 RECQL4 Rebecca Foulger edited their review of gene: RECQL4: Added comment: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 NSD1 Rebecca Foulger edited their review of gene: NSD1: Added comment: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 FLNA Rebecca Foulger edited their review of gene: FLNA: Added comment: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.183 TUBA1A Rebecca Foulger edited their review of gene: TUBA1A: Added comment: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
Fetal anomalies v0.182 RAC1 Rebecca Foulger Publications for gene: RAC1 were set to
Fetal anomalies v0.181 RAC1 Rebecca Foulger commented on gene: RAC1: Additional evidence from PMID:30712878: De novo variant identified in RAC1 from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).
Fetal anomalies v0.181 SCN2A Rebecca Foulger Publications for gene: SCN2A were set to
Fetal anomalies v0.180 SCN2A Rebecca Foulger commented on gene: SCN2A: Additional evidence from PMID:30712878: De novo variant identified in SCN2A from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).
Fetal anomalies v0.180 HCCS Rebecca Foulger Publications for gene: HCCS were set to
Fetal anomalies v0.179 HCCS Rebecca Foulger commented on gene: HCCS: Additional evidence from PMID:30266093: XL/de novo het variant identified in HCCS from fetal exome sequencing in Normand et al., 2018 (PMID:30266093).
Fetal anomalies v0.179 DDX3X Rebecca Foulger Publications for gene: DDX3X were set to
Fetal anomalies v0.178 DDX3X Rebecca Foulger commented on gene: DDX3X: Additional evidence from PMID:30266093: XL, de novo het variant identified in DDX3X from fetal exome sequencing in Normand et al., 2018 (PMID:30266093).
Fetal anomalies v0.178 ACTA1 Rebecca Foulger Publications for gene: ACTA1 were set to
Fetal anomalies v0.177 ACTA1 Rebecca Foulger commented on gene: ACTA1: Additional evidence from PMID:30266093: AD/de novo het variant identified in ACTA1 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).
Adult onset dystonia, chorea or related movement disorder v0.45 CYP27A1 Philip Dawson reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30054180, 29484516; Phenotypes: Cerebrotendinous xanthomatosis, 213700, Dystonia, including childhood & adult onset.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.177 GBA Rebecca Foulger Publications for gene: GBA were set to
Fetal anomalies v0.176 GBA Rebecca Foulger commented on gene: GBA: Additional evidence from PAGE study: Diagnostic Homozygous variant identified in GBA from fetal exome sequencing in Lord et al., 2019 (PMID:30712880).
Fetal anomalies v0.176 TCTN2 Rebecca Foulger Publications for gene: TCTN2 were set to
Fetal anomalies v0.175 TCTN2 Rebecca Foulger commented on gene: TCTN2: Additional evidence from PAGE study: Diagnostic Homozygous variant identified in TCTN2 from fetal exome sequencing in Lord et al., 2019 (PMID:30712880).
Fetal anomalies v0.175 COQ9 Rebecca Foulger Publications for gene: COQ9 were set to
Early onset dystonia v1.78 CYP27A1 Philip Dawson reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30054180, 29484516; Phenotypes: Cerebrotendinous xanthomatosis, 213700, Dystonia, including childhood & adult onset.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.174 COQ9 Rebecca Foulger commented on gene: COQ9: Additional evidence from PAGE study: Diagnostic Homozygous variant identified in COQ9 from fetal exome sequencing in Lord et al., 2019 (PMID:30712880).
Sarcoma cancer susceptibility v1.12 FH Ellen McDonagh Classified gene: FH as Amber List (moderate evidence)
Sarcoma cancer susceptibility v1.12 FH Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber, awaiting clinical expert review. This is a Green gene on the Adult solid tumours cancer susceptibility panel version 1.2 for Werner syndrome. It is a confirmed cancer gene in Gene2Phenotype for LEIOMYOMATOSIS AND RENAL CELL CANCER (monoallelic mode of inheritance).
Sarcoma cancer susceptibility v1.12 FH Ellen McDonagh Gene: fh has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.174 BCS1L Rebecca Foulger Publications for gene: BCS1L were set to
Fetal anomalies v0.173 BCS1L Rebecca Foulger commented on gene: BCS1L: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetal exome sequencing in Lord et al., 2019 (PMID:30712880).
Sarcoma cancer susceptibility v1.11 WRN Ellen McDonagh Classified gene: WRN as Amber List (moderate evidence)
Sarcoma cancer susceptibility v1.11 WRN Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber, awaiting expert clinical review. This is a Green gene on the Childhood solid tumours cancer susceptibility panel version 1.2 and the Thyroid cancer pertinent cancer susceptibility panel version 1.0 for Werner syndrome. It is a confirmed cancer gene in Gen2Phenotype for Werner syndrome.
Sarcoma cancer susceptibility v1.11 WRN Ellen McDonagh Gene: wrn has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.173 PROK2 Rebecca Foulger Publications for gene: PROK2 were set to
Fetal anomalies v0.172 PROK2 Rebecca Foulger commented on gene: PROK2: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetal exome sequencing in Lord et al., 2019 (PMID:30712880).
Fetal anomalies v0.172 PACS1 Rebecca Foulger Publications for gene: PACS1 were set to
Fetal anomalies v0.171 PACS1 Rebecca Foulger commented on gene: PACS1: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetal exome sequencing in Lord et al., 2019 (PMID:30712880).
Inherited white matter disorders v1.64 CYP27A1 Philip Dawson reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30467211, ISBN 9780511545054; Phenotypes: Cerebrotendinous xanthomatosis, 213700 Inherited white matter disorders.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.171 ROBO1 Rebecca Foulger Publications for gene: ROBO1 were set to 28592524; 28485101
Fetal anomalies v0.170 ROBO1 Rebecca Foulger commented on gene: ROBO1: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetal exome sequencing in Lord et al., 2019 (PMID:30712880).
Early onset or syndromic epilepsy v1.35 CYP27A1 Philip Dawson reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24442603, 29484516; Phenotypes: Cerebrotendinous xanthomatosis, 213700, Epilepsy, including childhood onset.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Sarcoma cancer susceptibility v1.10 WRN Ellen McDonagh gene: WRN was added
gene: WRN was added to Sarcoma cancer susceptibility. Sources: Expert list
Mode of inheritance for gene: WRN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WRN were set to Werner syndrome 277700
Added comment: This gene was requested to be added to this panel by Shazia Mahamdallie (GOSH).
Sources: Expert list
Fetal anomalies v0.170 MECP2 Rebecca Foulger Publications for gene: MECP2 were set to
Fetal anomalies v0.169 MECP2 Rebecca Foulger commented on gene: MECP2: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetal exome sequencing in Lord et al., 2019 (PMID:30712880).
Fetal anomalies v0.169 KCNQ2 Rebecca Foulger Publications for gene: KCNQ2 were set to
Fetal anomalies v0.168 KCNQ2 Rebecca Foulger commented on gene: KCNQ2: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetal exome sequencing in Lord et al., 2019 (PMID:30712880).
Intellectual disability v2.800 CYP27A1 Philip Dawson reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24442603, 29484516; Phenotypes: Cerebrotendinous Xanthomatosis (CTX), 213700, intellectaul disability including childhood & adult onset; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.168 HYDIN Rebecca Foulger Publications for gene: HYDIN were set to
Fetal anomalies v0.167 HYDIN Rebecca Foulger commented on gene: HYDIN: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetal exome sequencing in Lord et al., 2019 (PMID:30712880).
Sarcoma cancer susceptibility v1.9 FH Ellen McDonagh gene: FH was added
gene: FH was added to Sarcoma cancer susceptibility. Sources: Expert Review
Mode of inheritance for gene: FH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FH were set to Leiomyomatosis and renal cell cancer 150800
Added comment: This gene was requested to be added to this panel by Shazia Mahamdallie (GOSH).
Sources: Expert Review
Mitochondrial disorders v1.192 QRSL1 Ellen McDonagh Publications for gene: QRSL1 were set to
Structural eye disease v0.55 FAT1 Ivone Leong Deleted their comment
Structural eye disease v0.55 FAT1 Ivone Leong commented on gene: FAT1: Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). DB Lahrouchi: five families; Ciani mouse mouse model
Structural eye disease v0.55 PRR12 Ivone Leong reviewed gene: PRR12: Rating: GREEN; Mode of pathogenicity: ; Publications: 29556724; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.54 PRR12 Ivone Leong Deleted their review
Skeletal dysplasia v1.151 FGFR3 Tracy Lester edited their review of gene: FGFR3: Added comment: This gene should definitely be green; Changed rating: GREEN
Skeletal dysplasia v1.151 CEP120 Tracy Lester edited their review of gene: CEP120: Added comment: There are enough cases with specific skeletal phenotype (short rib thoracic dysplasia +/- polydactyly) to call green; Changed rating: GREEN
Skeletal dysplasia v1.151 MANBA Tracy Lester reviewed gene: MANBA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mannosidosis, beta 248510; Mode of inheritance:
Skeletal dysplasia v1.150 MANBA Eleanor Williams reviewed gene: MANBA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Structural eye disease v0.54 CPAMD8 Ivone Leong Phenotypes for gene: CPAMD8 were changed from Anterior segment dysgenesis 8 to Anterior segment dysgenesis 8, 617319
Structural eye disease v0.53 CPAMD8 Ivone Leong edited their review of gene: CPAMD8: Changed phenotypes: Anterior segment dysgenesis 8
Structural eye disease v0.52 CPAMD8 Ivone Leong Phenotypes for gene: CPAMD8 were changed from to Anterior segment dysgenesis 8
Skeletal dysplasia v1.149 MANBA Eleanor Williams gene: MANBA was added
gene: MANBA was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: MANBA was set to
Structural eye disease v0.51 SLC38A8 Ivone Leong Publications for gene: SLC38A8 were set to
Thoracic aortic aneurysm or dissection (GMS) v0.0 ZNF469 Ellen McDonagh gene: ZNF469 was added
gene: ZNF469 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red
Mode of inheritance for gene: ZNF469 was set to BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection (GMS) v0.0 TNXB Ellen McDonagh gene: TNXB was added
gene: TNXB was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red
Mode of inheritance for gene: TNXB was set to BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection (GMS) v0.0 SMAD6 Ellen McDonagh gene: SMAD6 was added
gene: SMAD6 was added to GMS FTAAD placeholder panel. Sources: London South GLH,Expert Review Red
Mode of inheritance for gene: SMAD6 was set to
Thoracic aortic aneurysm or dissection (GMS) v0.0 SLC39A13 Ellen McDonagh gene: SLC39A13 was added
gene: SLC39A13 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red
Mode of inheritance for gene: SLC39A13 was set to BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection (GMS) v0.0 PKD2 Ellen McDonagh gene: PKD2 was added
gene: PKD2 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red
Mode of inheritance for gene: PKD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PKD2 were set to Connective Tissue Disorders; Polycystic kidney disease 2, 613095
Thoracic aortic aneurysm or dissection (GMS) v0.0 PKD1 Ellen McDonagh gene: PKD1 was added
gene: PKD1 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red
Mode of inheritance for gene: PKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PKD1 were set to Connective Tissue Disorders; Polycystic kidney disease, adult type I,173900
Thoracic aortic aneurysm or dissection (GMS) v0.0 MYLK2 Ellen McDonagh gene: MYLK2 was added
gene: MYLK2 was added to GMS FTAAD placeholder panel. Sources: London South GLH,Expert Review Red
Mode of inheritance for gene: MYLK2 was set to
Thoracic aortic aneurysm or dissection (GMS) v0.0 MAT2A Ellen McDonagh gene: MAT2A was added
gene: MAT2A was added to GMS FTAAD placeholder panel. Sources: London South GLH,Expert Review Red
Mode of inheritance for gene: MAT2A was set to
Thoracic aortic aneurysm or dissection (GMS) v0.0 LTBP2 Ellen McDonagh gene: LTBP2 was added
gene: LTBP2 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red
Mode of inheritance for gene: LTBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LTBP2 were set to Marfan syndrome
Thoracic aortic aneurysm or dissection (GMS) v0.0 KCNN1 Ellen McDonagh gene: KCNN1 was added
gene: KCNN1 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red
Mode of inheritance for gene: KCNN1 was set to Unknown
Thoracic aortic aneurysm or dissection (GMS) v0.0 HNRNPK Ellen McDonagh gene: HNRNPK was added
gene: HNRNPK was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red
Mode of inheritance for gene: HNRNPK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection (GMS) v0.0 FKBP14 Ellen McDonagh gene: FKBP14 was added
gene: FKBP14 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red
Mode of inheritance for gene: FKBP14 was set to BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection (GMS) v0.0 FBLN5 Ellen McDonagh gene: FBLN5 was added
gene: FBLN5 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red
Mode of inheritance for gene: FBLN5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection (GMS) v0.0 EMILIN1 Ellen McDonagh gene: EMILIN1 was added
gene: EMILIN1 was added to GMS FTAAD placeholder panel. Sources: London South GLH,Expert Review Red
Mode of inheritance for gene: EMILIN1 was set to
Thoracic aortic aneurysm or dissection (GMS) v0.0 COL9A3 Ellen McDonagh gene: COL9A3 was added
gene: COL9A3 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red
Mode of inheritance for gene: COL9A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection (GMS) v0.0 COL9A2 Ellen McDonagh gene: COL9A2 was added
gene: COL9A2 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red
Mode of inheritance for gene: COL9A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection (GMS) v0.0 COL9A1 Ellen McDonagh gene: COL9A1 was added
gene: COL9A1 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red
Mode of inheritance for gene: COL9A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection (GMS) v0.0 COL4A1 Ellen McDonagh gene: COL4A1 was added
gene: COL4A1 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red
Mode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL4A1 were set to Angiopathy, hereditary, with nephropathy, aneurysms, and muscle, 611773; Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps
Thoracic aortic aneurysm or dissection (GMS) v0.0 COL2A1 Ellen McDonagh gene: COL2A1 was added
gene: COL2A1 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red
Mode of inheritance for gene: COL2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection (GMS) v0.0 COL11A2 Ellen McDonagh gene: COL11A2 was added
gene: COL11A2 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red
Mode of inheritance for gene: COL11A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection (GMS) v0.0 COL11A1 Ellen McDonagh gene: COL11A1 was added
gene: COL11A1 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red
Mode of inheritance for gene: COL11A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection (GMS) v0.0 CHST14 Ellen McDonagh gene: CHST14 was added
gene: CHST14 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red
Mode of inheritance for gene: CHST14 was set to BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection (GMS) v0.0 CBS Ellen McDonagh gene: CBS was added
gene: CBS was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red
Mode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CBS were set to Marfan syndrome
Thoracic aortic aneurysm or dissection (GMS) v0.0 B4GALT7 Ellen McDonagh gene: B4GALT7 was added
gene: B4GALT7 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red
Mode of inheritance for gene: B4GALT7 was set to BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection (GMS) v0.0 ATP7A Ellen McDonagh gene: ATP7A was added
gene: ATP7A was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red
Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Thoracic aortic aneurysm or dissection (GMS) v0.0 ATP6V0A2 Ellen McDonagh gene: ATP6V0A2 was added
gene: ATP6V0A2 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red
Mode of inheritance for gene: ATP6V0A2 was set to BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection (GMS) v0.0 ALDH18A1 Ellen McDonagh gene: ALDH18A1 was added
gene: ALDH18A1 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red
Mode of inheritance for gene: ALDH18A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection (GMS) v0.0 ADAMTS2 Ellen McDonagh gene: ADAMTS2 was added
gene: ADAMTS2 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red
Mode of inheritance for gene: ADAMTS2 was set to BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection (GMS) v0.0 ACVR1 Ellen McDonagh gene: ACVR1 was added
gene: ACVR1 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red
Mode of inheritance for gene: ACVR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection (GMS) v0.0 ABL1 Ellen McDonagh gene: ABL1 was added
gene: ABL1 was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,South West GLH
Mode of inheritance for gene: ABL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ABL1 were set to Failure to thrive in infancy (HP:0001531); Generalized joint laxity (HP:0002761); Ascending aortic dilation (HP:0004970); Congenital finger flexion contractures (HP:0005879); Hypospadias (HP:0000047); Pectus excavatum (HP:0000767); Congenital heart defects and skeletal malformations syndrome, 617602; Scoliosis (HP:0002650); Congenital septal defect (HP:0004760)
Thoracic aortic aneurysm or dissection (GMS) v0.0 ABCC6 Ellen McDonagh gene: ABCC6 was added
gene: ABCC6 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red
Mode of inheritance for gene: ABCC6 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection (GMS) v0.0 TGFB3 Ellen McDonagh gene: TGFB3 was added
gene: TGFB3 was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH
Mode of inheritance for gene: TGFB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFB3 were set to Loeys-Dietz syndrome 5, 615582; Arrhythmogenic right ventricular dysplasia 1, 107970
Thoracic aortic aneurysm or dissection (GMS) v0.0 SMAD4 Ellen McDonagh gene: SMAD4 was added
gene: SMAD4 was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH
Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMAD4 were set to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050
Thoracic aortic aneurysm or dissection (GMS) v0.0 SMAD2 Ellen McDonagh gene: SMAD2 was added
gene: SMAD2 was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH
Mode of inheritance for gene: SMAD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMAD2 were set to arterial aneurysms and dissections
Thoracic aortic aneurysm or dissection (GMS) v0.0 SLC2A10 Ellen McDonagh gene: SLC2A10 was added
gene: SLC2A10 was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH
Mode of inheritance for gene: SLC2A10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC2A10 were set to Arterial tortuosity syndrome, 208050; Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders
Thoracic aortic aneurysm or dissection (GMS) v0.0 PRKG1 Ellen McDonagh gene: PRKG1 was added
gene: PRKG1 was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH
Mode of inheritance for gene: PRKG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PRKG1 were set to Aortic aneurysm, familial thoracic 8, 615436
Thoracic aortic aneurysm or dissection (GMS) v0.0 PLOD1 Ellen McDonagh gene: PLOD1 was added
gene: PLOD1 was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH
Mode of inheritance for gene: PLOD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLOD1 were set to kyphoscoliotic EDS; Ehlers-Danlos syndrome, type VI, 225400
Thoracic aortic aneurysm or dissection (GMS) v0.0 NOTCH1 Ellen McDonagh gene: NOTCH1 was added
gene: NOTCH1 was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH
Mode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NOTCH1 were set to Aortic valve disease 1, 109730
Thoracic aortic aneurysm or dissection (GMS) v0.0 MFAP5 Ellen McDonagh gene: MFAP5 was added
gene: MFAP5 was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH
Mode of inheritance for gene: MFAP5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MFAP5 were set to Aortic aneurysm, familial thoracic 9, 616166
Thoracic aortic aneurysm or dissection (GMS) v0.0 MED12 Ellen McDonagh gene: MED12 was added
gene: MED12 was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH
Mode of inheritance for gene: MED12 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MED12 were set to Lujan-Fryns syndrome, 309520; Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders
Thoracic aortic aneurysm or dissection (GMS) v0.0 LOX Ellen McDonagh gene: LOX was added
gene: LOX was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH
Mode of inheritance for gene: LOX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LOX were set to Aortic aneurysm, familial thoracic 10, 617168; aortic aneurysm
Thoracic aortic aneurysm or dissection (GMS) v0.0 FOXE3 Ellen McDonagh gene: FOXE3 was added
gene: FOXE3 was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH
Mode of inheritance for gene: FOXE3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FOXE3 were set to {Aortic aneurysm, familial thoracic 11, susceptibility to}
Thoracic aortic aneurysm or dissection (GMS) v0.0 FLNA Ellen McDonagh gene: FLNA was added
gene: FLNA was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH
Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FLNA were set to Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders
Thoracic aortic aneurysm or dissection (GMS) v0.0 FLCN Ellen McDonagh gene: FLCN was added
gene: FLCN was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH
Mode of inheritance for gene: FLCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FLCN were set to Birt-Hogg-Dube syndrome,135150; Pneumothorax, primary spontaneous, 173600
Thoracic aortic aneurysm or dissection (GMS) v0.0 FBN2 Ellen McDonagh gene: FBN2 was added
gene: FBN2 was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH
Mode of inheritance for gene: FBN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FBN2 were set to Congenital Contractural Arachnodactyly; Contractural arachnodactyly, congenital, 121050
Thoracic aortic aneurysm or dissection (GMS) v0.0 ELN Ellen McDonagh gene: ELN was added
gene: ELN was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH
Mode of inheritance for gene: ELN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ELN were set to Supravalvar aortic stenosis, 185500; Cutis laxa, autosomal dominant, 123700
Thoracic aortic aneurysm or dissection (GMS) v0.0 EFEMP2 Ellen McDonagh gene: EFEMP2 was added
gene: EFEMP2 was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH
Mode of inheritance for gene: EFEMP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EFEMP2 were set to Cutis laxa, autosomal recessive, type IB, 614437; aortic aneurysm
Thoracic aortic aneurysm or dissection (GMS) v0.0 COL5A2 Ellen McDonagh gene: COL5A2 was added
gene: COL5A2 was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH
Mode of inheritance for gene: COL5A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL5A2 were set to Ehlers-Danlos syndrome, classic type, 130000; multisystemic smooth muscle dysfunction syndrome
Thoracic aortic aneurysm or dissection (GMS) v0.0 COL5A1 Ellen McDonagh gene: COL5A1 was added
gene: COL5A1 was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH
Mode of inheritance for gene: COL5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL5A1 were set to Ehlers-Danlos syndrome, classic type, 130000; Ehlers-Danlos syndrome vascular type
Thoracic aortic aneurysm or dissection (GMS) v0.0 COL1A2 Ellen McDonagh gene: COL1A2 was added
gene: COL1A2 was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH
Mode of inheritance for gene: COL1A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COL1A2 were set to Ehlers-Danlos syndrome, cardiac valvular form; Ehlers-Danlos syndrome, type VIIB
Thoracic aortic aneurysm or dissection (GMS) v0.0 COL1A1 Ellen McDonagh gene: COL1A1 was added
gene: COL1A1 was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH
Mode of inheritance for gene: COL1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL1A1 were set to Ehlers-Danlos syndrome, classic, 130000; Ehlers-Danlos syndrome, type VIIA, 130060
Thoracic aortic aneurysm or dissection (GMS) v0.0 BGN Ellen McDonagh gene: BGN was added
gene: BGN was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH
Mode of inheritance for gene: BGN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: BGN were set to X-linked syndromic TAAD; syndromic thoracic aortic aneurysm and dissection
Thoracic aortic aneurysm or dissection (GMS) v0.0 TGFBR2 Ellen McDonagh gene: TGFBR2 was added
gene: TGFBR2 was added to GMS FTAAD placeholder panel. Sources: Expert Review Green,London South GLH,South West GLH,North West GLH
Mode of inheritance for gene: TGFBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFBR2 were set to Loeys-Dietz syndrome; Loeys Dietz syndrome, type 1B, 610168; Loeys Dietz syndrome, type 2 (610168); Loeys Dietz syndrome, type 2B, 610380
Thoracic aortic aneurysm or dissection (GMS) v0.0 TGFBR1 Ellen McDonagh gene: TGFBR1 was added
gene: TGFBR1 was added to GMS FTAAD placeholder panel. Sources: Expert Review Green,London South GLH,South West GLH,North West GLH
Mode of inheritance for gene: TGFBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFBR1 were set to Loeys Dietz syndrome, type 2A, 608967; Loeys-Dietz syndrome; Loeys Dietz syndrome, type 1A, 609192; Loeys Dietz syndrome, type 1A (609192)
Thoracic aortic aneurysm or dissection (GMS) v0.0 TGFB2 Ellen McDonagh gene: TGFB2 was added
gene: TGFB2 was added to GMS FTAAD placeholder panel. Sources: Expert Review Green,London South GLH,South West GLH,North West GLH
Mode of inheritance for gene: TGFB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFB2 were set to Loeys-Dietz syndrome 4, 614816; Loeys-Dietz syndrome 4 (614816)
Thoracic aortic aneurysm or dissection (GMS) v0.0 SMAD3 Ellen McDonagh gene: SMAD3 was added
gene: SMAD3 was added to GMS FTAAD placeholder panel. Sources: Expert Review Green,London South GLH,South West GLH,North West GLH
Mode of inheritance for gene: SMAD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMAD3 were set to Loeys Dietz syndrome, type 3 (613795); Loeys Dietz syndrome, type 3, 613795
Thoracic aortic aneurysm or dissection (GMS) v0.0 SKI Ellen McDonagh gene: SKI was added
gene: SKI was added to GMS FTAAD placeholder panel. Sources: Expert Review Green,London South GLH,South West GLH,North West GLH
Mode of inheritance for gene: SKI was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SKI were set to Shprintzen-Goldberg Craniosynostosis Syndrome, 182212; Shprintzen-Goldberg syndrome (182212); Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders
Thoracic aortic aneurysm or dissection (GMS) v0.0 MYLK Ellen McDonagh gene: MYLK was added
gene: MYLK was added to GMS FTAAD placeholder panel. Sources: Expert Review Green,London South GLH,South West GLH,North West GLH
Mode of inheritance for gene: MYLK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYLK were set to Aortic aneurysm, familial thoracic 7 (613780); Aortic aneurysm, familial thoracic 7, 613780
Thoracic aortic aneurysm or dissection (GMS) v0.0 MYH11 Ellen McDonagh gene: MYH11 was added
gene: MYH11 was added to GMS FTAAD placeholder panel. Sources: Expert Review Green,London South GLH,South West GLH,North West GLH
Mode of inheritance for gene: MYH11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYH11 were set to Aortic aneurysm, familial thoracic 4, 132900; Aortic aneurysm, familial thoracic 4 (132900)
Thoracic aortic aneurysm or dissection (GMS) v0.0 FBN1 Ellen McDonagh gene: FBN1 was added
gene: FBN1 was added to GMS FTAAD placeholder panel. Sources: Expert Review Green,London South GLH,South West GLH,North West GLH
Mode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FBN1 were set to Weill-Marchesani syndrome 2, dominant, (608328); Marfan syndrome (154700); Ectopia lentis, familial (129600); Marfan lipodystrophy syndrome (616914); MASS syndrome (604308); Stiff skin syndrome (184900); Geleophysic dysplasia 2 (614185); Marfan Syndrome; Aortic aneurysm, ascending, and dissection; ongenital contracturalarachnodactyly; Acromicric dysplasia (102370)
Thoracic aortic aneurysm or dissection (GMS) v0.0 COL3A1 Ellen McDonagh gene: COL3A1 was added
gene: COL3A1 was added to GMS FTAAD placeholder panel. Sources: Expert Review Green,London South GLH,South West GLH,North West GLH
Mode of inheritance for gene: COL3A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL3A1 were set to Ehlers-Danlos syndrome, type IV, 130050; Loeys-Dietz syndrome; Ehlers-Danlos syndrome, vascular type (130050)
Thoracic aortic aneurysm or dissection (GMS) v0.0 ACTA2 Ellen McDonagh gene: ACTA2 was added
gene: ACTA2 was added to GMS FTAAD placeholder panel. Sources: Expert Review Green,London South GLH,South West GLH,North West GLH
Mode of inheritance for gene: ACTA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTA2 were set to Aortic aneurysm, familial thoracic 6, 611788; Aortic aneurysm, familial thoracic 6 (611788); Thoracic aortic aneurysm and dissection; Multisystemic smooth muscle dysfunction syndrome, 613834; Moyamoya disease 5 (614042); Thoracic Aortic Aneurysms and Aortic Dissections; Multisystemic smooth muscle dysfunction syndrome (613834); Moyamoya disease 5, 614042; Isolated familial thoracic aortic aneurysms and dissection
Thoracic aortic aneurysm or dissection (GMS) v0.0 Ellen McDonagh Added panel GMS FTAAD placeholder panel
Structural eye disease v0.50 SCLT1 Ivone Leong Publications for gene: SCLT1 were set to 29450879; 24285566
Skeletal dysplasia v1.148 RNU4ATAC Eleanor Williams commented on gene: RNU4ATAC: Initial rating of Amber uploaded on behalf of Tracy Lester was incorrect. She has now corrected this to green.
Fetal anomalies v0.167 SLC2A1 Rebecca Foulger Source Expert Review Red was added to SLC2A1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.167 PPT1 Rebecca Foulger Source Expert Review Red was added to PPT1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.167 QDPR Rebecca Foulger Source Expert Review Red was added to QDPR.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.167 DLAT Rebecca Foulger Source Expert Review Red was added to DLAT.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.167 TPP1 Rebecca Foulger Source Expert Review Red was added to TPP1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.167 AUH Rebecca Foulger Source Expert Review Red was added to AUH.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.167 EMD Rebecca Foulger Publications for gene EMD were changed from to 26247046
Fetal anomalies v0.167 TCN2 Rebecca Foulger Source Expert Review Red was added to TCN2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.167 TRAPPC2 Rebecca Foulger Source Expert Review Red was added to TRAPPC2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.167 IQSEC2 Rebecca Foulger Source Expert Review Red was added to IQSEC2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.167 HYDIN Rebecca Foulger Source Expert Review Red was added to HYDIN.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.167 LAMP2 Rebecca Foulger Source Expert Review Red was added to LAMP2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.167 PPA2 Rebecca Foulger Source Expert Review Red was added to PPA2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.167 DSP Rebecca Foulger Publications for gene DSP were changed from to 30993396
Fetal anomalies v0.167 GAS8 Rebecca Foulger Source Expert Review Red was added to GAS8.
Publications for gene GAS8 were changed from to 30166424
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.167 CCDC65 Rebecca Foulger Source Expert Review Red was added to CCDC65.
Publications for gene CCDC65 were changed from to 30166424
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.167 CCNO Rebecca Foulger Source Expert Review Red was added to CCNO.
Publications for gene CCNO were changed from to 30166424
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.167 RSPH3 Rebecca Foulger Source Expert Review Red was added to RSPH3.
Publications for gene RSPH3 were changed from to 30166424
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.167 RSPH1 Rebecca Foulger Source Expert Review Red was added to RSPH1.
Publications for gene RSPH1 were changed from to 30166424
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.167 TBXAS1 Rebecca Foulger Source Expert Review Red was added to TBXAS1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.167 AGPAT2 Rebecca Foulger Source Expert Review Red was added to AGPAT2.
Publications for gene AGPAT2 were changed from to 22902344
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.167 OTULIN Rebecca Foulger Source Expert Review Red was added to OTULIN.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.166 UMPS Rebecca Foulger edited their review of gene: UMPS: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Although it is unclear which phenotype presents when, it is best to include on the panel.; Changed rating: GREEN
Fetal anomalies v0.166 SLC35C1 Rebecca Foulger edited their review of gene: SLC35C1: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green.; Changed rating: GREEN
Fetal anomalies v0.166 SLC2A1 Rebecca Foulger edited their review of gene: SLC2A1: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.166 SLC25A20 Rebecca Foulger edited their review of gene: SLC25A20: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Although it is unclear which phenotype presents when, it is best to include on the panel.; Changed rating: GREEN
Fetal anomalies v0.166 PPT1 Rebecca Foulger edited their review of gene: PPT1: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Microcephaly phenotype presents postnatally. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.166 QDPR Rebecca Foulger edited their review of gene: QDPR: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Although not explicitly stated, microcephaly is implied to be progressive. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.166 DLAT Rebecca Foulger edited their review of gene: DLAT: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Present early but microcephaly is acquired. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.166 TPP1 Rebecca Foulger edited their review of gene: TPP1: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Probably won't present prenatally. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.166 TMEM165 Rebecca Foulger edited their review of gene: TMEM165: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: OMIM phenotypes include growth retardation, and most had short stature. Other features included dysmorphism, hypotonia, eye abnormalities, acquired microcephaly, hepatomegaly, and skeletal dysplasia.; Changed rating: GREEN
Fetal anomalies v0.166 PTS Rebecca Foulger edited their review of gene: PTS: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green.; Changed rating: GREEN
Fetal anomalies v0.166 AUH Rebecca Foulger edited their review of gene: AUH: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Progressive disorder with late onset (30yrs) in some patients. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.166 ASS1 Rebecca Foulger edited their review of gene: ASS1: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green.; Changed rating: GREEN
Fetal anomalies v0.166 SAMHD1 Rebecca Foulger edited their review of gene: SAMHD1: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green.; Changed rating: GREEN
Fetal anomalies v0.166 PSAP Rebecca Foulger edited their review of gene: PSAP: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green.; Changed rating: GREEN
Fetal anomalies v0.166 ARSA Rebecca Foulger edited their review of gene: ARSA: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Can cause leukodystrophy.; Changed rating: GREEN
Fetal anomalies v0.166 EMD Rebecca Foulger edited their review of gene: EMD: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green.; Changed rating: GREEN; Changed publications: 26247046
Fetal anomalies v0.166 SMN1 Rebecca Foulger edited their review of gene: SMN1: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green.; Changed rating: GREEN
Fetal anomalies v0.166 TCN2 Rebecca Foulger edited their review of gene: TCN2: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Post-natal onset. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.166 PHOX2B Rebecca Foulger edited their review of gene: PHOX2B: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Hirschsprung disease would present in infancy.; Changed rating: GREEN
Fetal anomalies v0.166 TRAPPC2 Rebecca Foulger edited their review of gene: TRAPPC2: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Age of onset is 5-10 years. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.166 IQSEC2 Rebecca Foulger edited their review of gene: IQSEC2: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.166 HYDIN Rebecca Foulger edited their review of gene: HYDIN: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Primary Ciliary Dyskinesia (PCD) but can exclude from causing situs defects. According to PMID:30166424 (Best et al., 2019) plus email correspondance from Hannah Mitchison (UCL), there is fairly firm evidence that mutations in HYDIN cause PCD without laterality defects/Situs Invertis. Variant flagged as Potentially Clinically Useful from PAGE study. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.166 LAMP2 Rebecca Foulger edited their review of gene: LAMP2: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Diagnosis is in childhood. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.166 PPA2 Rebecca Foulger edited their review of gene: PPA2: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Phenotype is not morphological. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.166 DSP Rebecca Foulger edited their review of gene: DSP: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include because tooth agenesis can be detected prenatally.; Changed rating: GREEN; Changed publications: 30993396
Fetal anomalies v0.166 GAS8 Rebecca Foulger edited their review of gene: GAS8: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Primary Ciliary Dyskinesia (PCD) but highly unlikely to cause situs defects. According to PMID:30166424 (Best et al., 2019), GAS8 has not previously been associated with Situs defects in the literature. Plus email correspondance from Hannah Mitchison (UCL) that mutations in GAS8 are not associated with laterality defects, including in mice. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED; Changed publications: 30166424
Fetal anomalies v0.166 CCDC65 Rebecca Foulger edited their review of gene: CCDC65: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Primary Ciliary Dyskinesia (PCD) but highly unlikely to cause situs defects. According to PMID:30166424 (Best et al., 2019), CCDC65 (DRC2) has not previously been associated with Situs defects in the literature. Plus email correspondance from Hannah Mitchison (UCL) that mutations in CCDC65/DRC2 are not associated with laterality defects, including in mice. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED; Changed publications: 30166424
Fetal anomalies v0.166 CCNO Rebecca Foulger edited their review of gene: CCNO: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Primary Ciliary Dyskinesia (PCD) but can exclude from causing situs defects. According to PMID:30166424 (Best et al., 2019) plus email correspondance from Hannah Mitchison (UCL), there is fairly firm evidence that mutations in CCNO cause PCD without laterality defects/Situs Invertis. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED; Changed publications: 30166424
Fetal anomalies v0.166 RSPH3 Rebecca Foulger edited their review of gene: RSPH3: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Primary Ciliary Dyskinesia (PCD) but can exclude from causing situs defects. According to PMID:30166424 (Best et al., 2019), RSPH3 has not previously been associated with Situs defects in the literature. Plus email correspondance from Hannah Mitchison (UCL) that there is fairly firm evidence that mutations in RSPH3 cause PCD without laterality defects/Situs Invertis. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED; Changed publications: 30166424
Fetal anomalies v0.166 RSPH1 Rebecca Foulger edited their review of gene: RSPH1: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Primary Ciliary Dyskinesia (PCD) but can exclude from causing situs defects. According to PMID:30166424 (Best et al., 2019) plus email correspondance from Hannah Mitchison (UCL), there is fairly firm evidence that mutations in RSPH1 cause PCD without laterality defects/Situs Invertis. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED; Changed publications: 30166424
Fetal anomalies v0.166 TBXAS1 Rebecca Foulger edited their review of gene: TBXAS1: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Storage disorder. Progressive phenotype that presents later in childhood. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.166 AGPAT2 Rebecca Foulger edited their review of gene: AGPAT2: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Lipodystrophy. No obvious pre-natal phenotype. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED; Changed publications: 22902344
Fetal anomalies v0.166 OTULIN Rebecca Foulger edited their review of gene: OTULIN: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Lipodystrophy. Early treatment could be helpful but no obvious detectable prenatal phenotype. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED
Structural eye disease v0.49 SMAD4 Ivone Leong edited their review of gene: SMAD4: Changed phenotypes: Myhre syndrome, 139210
Structural eye disease v0.49 POMT2 Ivone Leong edited their review of gene: POMT2: Changed phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2
Structural eye disease v0.49 POMT1 Ivone Leong edited their review of gene: POMT1: Changed phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670
Structural eye disease v0.49 MITF Ivone Leong edited their review of gene: MITF: Changed phenotypes: COMMAD syndrome, 617306
Structural eye disease v0.49 KIAA1109 Ivone Leong edited their review of gene: KIAA1109: Changed phenotypes: Alkuraya-Kucinskas syndrome,
Structural eye disease v0.49 ISPD Ivone Leong edited their review of gene: ISPD: Changed phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643
Structural eye disease v0.49 GLI2 Ivone Leong edited their review of gene: GLI2: Changed phenotypes: Holoprosencephaly 9, 610829
Structural eye disease v0.49 FKRP Ivone Leong edited their review of gene: FKRP: Changed phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5
Structural eye disease v0.49 EFTUD2 Ivone Leong edited their review of gene: EFTUD2: Changed phenotypes: Mandibulofacial dysostosis, Guion-Almeida type, 610536
Structural eye disease v0.49 ZIC2 Ivone Leong edited their review of gene: ZIC2: Changed phenotypes: Holoprosencephaly 5, 609637
Structural eye disease v0.49 ZEB2 Ivone Leong edited their review of gene: ZEB2: Changed phenotypes: Mowat-Wilson syndrome (Hirschsprung disease with bilateral iris and retinal coloboma and high myopia), 235730
Structural eye disease v0.49 ZEB1 Ivone Leong edited their review of gene: ZEB1: Changed phenotypes: Corneal dystrophy, posterior polymorphous, 3, Corneal dystrophy, Fuchs endothelial, 6, 609141, 613270
Structural eye disease v0.49 WRN Ivone Leong edited their review of gene: WRN: Changed phenotypes: Werner syndrome , 277700
Structural eye disease v0.49 VSX1 Ivone Leong edited their review of gene: VSX1: Changed phenotypes: Corneal dystrophy, posterior polymorphous, 1, Keratoconus 1, Craniofacial anomalies and anterior segment dysgenesis syndrome, 122000, 148300, 614195
Structural eye disease v0.49 VIM Ivone Leong edited their review of gene: VIM: Changed phenotypes: Cataract 30, pulverulent, 116300
Structural eye disease v0.49 UBIAD1 Ivone Leong edited their review of gene: UBIAD1: Changed phenotypes: Corneal dystrophy, Schnyder type, 121800
Structural eye disease v0.49 TMX3 Ivone Leong edited their review of gene: TMX3: Changed phenotypes: Microphthalmia, coloboma, micrognathia, diaphragmatic hernia , None
Structural eye disease v0.49 TGFBI Ivone Leong edited their review of gene: TGFBI: Changed phenotypes: Corneal dystrophy, epithelial basement membrane, Corneal dystrophy, Groenouw type I, Corneal dystrophy, lattice type I, Corneal dystrophy, Thiel-Behnke type, Corneal dystrophy, Avellino type, Corneal dystrophy, Reis-Bucklers type, Corneal dystrophy, lattice type IIIA, 121820, 121900, 122200, 602082, 607541, 608470, 608471
Structural eye disease v0.49 TDRD7 Ivone Leong edited their review of gene: TDRD7: Changed phenotypes: Cataract 36, 613887
Structural eye disease v0.49 TCOF1 Ivone Leong edited their review of gene: TCOF1: Changed phenotypes: Treacher Collins syndrome 1 (eyelid coloboma), 154500
Structural eye disease v0.49 TBX22 Ivone Leong edited their review of gene: TBX22: Changed phenotypes: ?Abruzzo-Erickson syndrome, 302905
Structural eye disease v0.49 TBC1D32 Ivone Leong edited their review of gene: TBC1D32: Changed phenotypes: Orofaciodigital syndrome 9, 258865
Structural eye disease v0.49 TACSTD2 Ivone Leong edited their review of gene: TACSTD2: Changed phenotypes: Corneal dystrophy, gelatinous drop-like, 204870
Structural eye disease v0.49 SRD5A3 Ivone Leong edited their review of gene: SRD5A3: Changed phenotypes: Kahrizi Syndrome (mental retardation, cataract, coloboma, kyphosis), 612713
Structural eye disease v0.49 SMCHD1 Ivone Leong edited their review of gene: SMCHD1: Changed phenotypes: ARHINIA, CHOANAL ATRESIA, AND MICROPHTHALMIA, 603457
Structural eye disease v0.49 SLC4A4 Ivone Leong edited their review of gene: SLC4A4: Changed phenotypes: Renal tubular acidosis, proximal, with ocular abnormalities, 604278
Structural eye disease v0.49 SLC4A11 Ivone Leong edited their review of gene: SLC4A11: Changed phenotypes: Corneal endothelial dystrophy and perceptive deafness, Corneal endothelial dystrophy 2, autosomal recessive, Corneal dystrophy, Fuchs endothelial, 4, 217400, 217700, 613268
Structural eye disease v0.49 SLC38A8 Ivone Leong edited their review of gene: SLC38A8: Changed phenotypes: Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218
Structural eye disease v0.49 SLC33A1 Ivone Leong edited their review of gene: SLC33A1: Changed phenotypes: Congenital cataracts, hearing loss, and neurodegeneration, 614482
Structural eye disease v0.49 SLC2A1 Ivone Leong edited their review of gene: SLC2A1: Changed phenotypes: STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, 608885
Structural eye disease v0.49 SLC16A12 Ivone Leong edited their review of gene: SLC16A12: Changed phenotypes: Cataract, juvenile, with microcornea and glucosuria, 612018
Structural eye disease v0.49 SIL1 Ivone Leong edited their review of gene: SIL1: Changed phenotypes: Marinesco-Sjogren syndrome, 248800
Structural eye disease v0.49 SH3PXD2B Ivone Leong edited their review of gene: SH3PXD2B: Changed phenotypes: Frank-ter Haar syndrome, 249420
Structural eye disease v0.49 SEMA3E Ivone Leong edited their review of gene: SEMA3E: Changed phenotypes: CHARGE, 214800
Structural eye disease v0.49 SEC23A Ivone Leong edited their review of gene: SEC23A: Changed phenotypes: Craniolenticulosutural dysplasia, 607812
Structural eye disease v0.49 SCLT1 Ivone Leong edited their review of gene: SCLT1: Changed phenotypes: Orofaciodigital syndrome IX (a severe ciliopathy phenotype featuring midline cleft, microcephaly, and colobomatous microphthalmia/anophthalmia, one case only (Adly et al 2014), variant was classified as unknown significance by OMIM), None
Structural eye disease v0.49 SC5D Ivone Leong edited their review of gene: SC5D: Changed phenotypes: LATHOSTEROLOSIS, 607330
Structural eye disease v0.49 SALL1 Ivone Leong edited their review of gene: SALL1: Changed phenotypes: Townes-Brocks branchiootorenal-like syndrome, 107480
Structural eye disease v0.49 PXDN Ivone Leong edited their review of gene: PXDN: Changed phenotypes: Corneal opacification and other ocular anomalies, 269400
Structural eye disease v0.49 PTCH1 Ivone Leong edited their review of gene: PTCH1: Changed phenotypes: Holoprosencephaly 7 (can include microphthalmia), 610828
Structural eye disease v0.49 PRDM5 Ivone Leong edited their review of gene: PRDM5: Changed phenotypes: Brittle cornea syndrome 2, 614170
Structural eye disease v0.49 PQBP1 Ivone Leong edited their review of gene: PQBP1: Changed phenotypes: Renpenning syndrome (can include microphthalmia/coloboma), 309500
Structural eye disease v0.49 POLR1D Ivone Leong edited their review of gene: POLR1D: Changed phenotypes: Treacher-Collins Syndrome 2, 613717
Structural eye disease v0.49 POLR1C Ivone Leong edited their review of gene: POLR1C: Changed phenotypes: Treacher-Collins Syndrome, 248390
Structural eye disease v0.49 PIKFYVE Ivone Leong edited their review of gene: PIKFYVE: Changed phenotypes: Corneal fleck dystrophy, 121850
Structural eye disease v0.49 PEX6 Ivone Leong edited their review of gene: PEX6: Changed phenotypes: Peroxisome biogenesis disorder 4B, 614863
Structural eye disease v0.49 PEX5 Ivone Leong edited their review of gene: PEX5: Changed phenotypes: Peroxisome biogenesis disorder 2B, 202370
Structural eye disease v0.49 PEX3 Ivone Leong edited their review of gene: PEX3: Changed phenotypes: Peroxisome biogenesis disorder 10A (Zellweger), 603164
Structural eye disease v0.49 PEX26 Ivone Leong edited their review of gene: PEX26: Changed phenotypes: Peroxisome biogenesis disorder 7B, 614873
Structural eye disease v0.49 PEX2 Ivone Leong edited their review of gene: PEX2: Changed phenotypes: Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5B, 614866, 614867
Structural eye disease v0.49 PEX19 Ivone Leong edited their review of gene: PEX19: Changed phenotypes: Peroxisome biogenesis disorder 12A (Zellweger), 614886
Structural eye disease v0.49 PEX16 Ivone Leong edited their review of gene: PEX16: Changed phenotypes: Peroxisome biogenesis disorder 8B, 614877
Structural eye disease v0.49 PEX14 Ivone Leong edited their review of gene: PEX14: Changed phenotypes: Peroxisome biogenesis disorder 13A (Zellweger), 614887
Structural eye disease v0.49 PEX13 Ivone Leong edited their review of gene: PEX13: Changed phenotypes: Peroxisome biogenesis disorder 11B, 614885
Structural eye disease v0.49 PEX12 Ivone Leong edited their review of gene: PEX12: Changed phenotypes: Peroxisome biogenesis disorder 3B, 266510
Structural eye disease v0.49 PEX11B Ivone Leong edited their review of gene: PEX11B: Changed phenotypes: Peroxisome biogenesis disorder 14B, 614920
Structural eye disease v0.49 PEX10 Ivone Leong edited their review of gene: PEX10: Changed phenotypes: Peroxisome biogenesis disorder 6B, 614871
Structural eye disease v0.49 PDE6D Ivone Leong edited their review of gene: PDE6D: Changed phenotypes: ?Joubert syndrome 22 (microphthalmia/optic nerve coloboma, intrauterine growth retardation, facial dysmorphism, postaxial polydactyly of feet, syndactyly, polydactyly, renal hypoplasia, extinguished electroretinogram), 615665
Structural eye disease v0.49 PAX3 Ivone Leong edited their review of gene: PAX3: Changed phenotypes: Waardenburg syndrome, type 3, Waardenburg syndrome, type 1, 148820, 193500
Structural eye disease v0.49 P3H2 Ivone Leong edited their review of gene: P3H2: Changed phenotypes: MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION, 614292
Structural eye disease v0.49 OCRL Ivone Leong edited their review of gene: OCRL: Changed phenotypes: Lowe syndrome, 309000
Structural eye disease v0.49 NOTCH2 Ivone Leong edited their review of gene: NOTCH2: Changed phenotypes: Hajdu-Cheney syndrome, Alagille syndrome 2, 102500, 610205
Structural eye disease v0.49 NHS Ivone Leong edited their review of gene: NHS: Changed phenotypes: Cataract 40, X-linked, Nance-Horan syndrome, 302200, 302350
Structural eye disease v0.49 NF2 Ivone Leong edited their review of gene: NF2: Changed phenotypes: Neurofibromatosis, Type II, 101000
Structural eye disease v0.49 MYH9 Ivone Leong edited their review of gene: MYH9: Changed phenotypes: Epstein Syndrome, Fechtner syndrome, 153650, 153640
Structural eye disease v0.49 MIR184 Ivone Leong edited their review of gene: MIR184: Changed phenotypes: EDICT syndrome, 614303
Structural eye disease v0.49 MIP Ivone Leong edited their review of gene: MIP: Changed phenotypes: Cataract 15, multiple types, 615274
Structural eye disease v0.49 MAN2B1 Ivone Leong edited their review of gene: MAN2B1: Changed phenotypes: Mannosidosis, alpha-, types I and II, 248500
Structural eye disease v0.49 LMX1B Ivone Leong edited their review of gene: LMX1B: Changed phenotypes: Nail-patella syndrome, 161200
Structural eye disease v0.49 LIM2 Ivone Leong edited their review of gene: LIM2: Changed phenotypes: Cataract 19, 615277
Structural eye disease v0.49 LCAT Ivone Leong edited their review of gene: LCAT: Changed phenotypes: Fish-eye disease, Norum disease, 136120, 245900
Structural eye disease v0.49 LAMB2 Ivone Leong edited their review of gene: LAMB2: Changed phenotypes: Pierson syndrome, Nephrotic syndrome, type 5, with or without ocular abnormalities, 609049, 614199
Structural eye disease v0.49 KRT3 Ivone Leong edited their review of gene: KRT3: Changed phenotypes: Meesmann corneal dystrophy, 122100
Structural eye disease v0.49 KRT12 Ivone Leong edited their review of gene: KRT12: Changed phenotypes: Meesmann corneal dystrophy, 122100
Structural eye disease v0.49 KMT2D Ivone Leong edited their review of gene: KMT2D: Changed phenotypes: Kabuki syndrome 1 (can include coloboma), 147920, add review paper
Structural eye disease v0.49 KERA Ivone Leong edited their review of gene: KERA: Changed phenotypes: Cornea plana congenita, recessive, 217300
Structural eye disease v0.49 KAT6B Ivone Leong edited their review of gene: KAT6B: Changed phenotypes: SBBYSS syndrome (blepharophimosis), 603736
Structural eye disease v0.49 JAM3 Ivone Leong edited their review of gene: JAM3: Changed phenotypes: Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730
Structural eye disease v0.49 ITPR1 Ivone Leong edited their review of gene: ITPR1: Changed phenotypes: Gillespie syndrome, 206700
Structural eye disease v0.49 ITPA Ivone Leong edited their review of gene: ITPA: Changed phenotypes: Warburg Micro syndrome and Martsolf syndrome with variable cardiac manifestation, None
Structural eye disease v0.49 HSF4 Ivone Leong edited their review of gene: HSF4: Changed phenotypes: Cataract 5, multiple types, 116800
Structural eye disease v0.49 GSN Ivone Leong edited their review of gene: GSN: Changed phenotypes: Amyloidosis, Finnish type, 105120
Structural eye disease v0.49 GNPTG Ivone Leong edited their review of gene: GNPTG: Changed phenotypes: Mucolipidosis III gamma, Retinitis Pigmentosa and skeletal abnormalities, 252605
Structural eye disease v0.49 GJA8 Ivone Leong edited their review of gene: GJA8: Changed phenotypes: Cataract 1, multiple types, 116200
Structural eye disease v0.49 GJA3 Ivone Leong edited their review of gene: GJA3: Changed phenotypes: Cataract 14, multiple types, 601885
Structural eye disease v0.49 GFER Ivone Leong edited their review of gene: GFER: Changed phenotypes: Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076
Structural eye disease v0.49 GCNT2 Ivone Leong edited their review of gene: GCNT2: Changed phenotypes: Cataract 13 with adult i phenotype, 116700
Structural eye disease v0.49 GALT Ivone Leong edited their review of gene: GALT: Changed phenotypes: Galactosemia, 230400
Structural eye disease v0.49 GALK1 Ivone Leong edited their review of gene: GALK1: Changed phenotypes: Galactokinase deficiency with cataracts, 230200
Structural eye disease v0.49 FZD5 Ivone Leong edited their review of gene: FZD5: Changed phenotypes: Coloboma, None
Structural eye disease v0.49 FYCO1 Ivone Leong edited their review of gene: FYCO1: Changed phenotypes: Cataract 18, autosomal recessive, 610019
Structural eye disease v0.49 FTL Ivone Leong edited their review of gene: FTL: Changed phenotypes: Hyperferritinemia-cataract syndrome, 600886
Structural eye disease v0.49 FOXL2 Ivone Leong edited their review of gene: FOXL2: Changed phenotypes: Blepharophimosis, epicanthus inversus, and ptosis, 110100
Structural eye disease v0.49 FNBP4 Ivone Leong edited their review of gene: FNBP4: Changed phenotypes: Microphthalmia with Limb anomalies (Classified as variant of unknown significance on OMIM), 206920
Structural eye disease v0.49 FBN1 Ivone Leong edited their review of gene: FBN1: Changed phenotypes: Ectopia lentis, familial, Marfan syndrome, MASS syndrome, Weill-Marchesani syndrome 2, dominant, Marfan lipodystrophy syndrome, 129600, 154700, 604308, 608328, 616914
Structural eye disease v0.49 FAM126A Ivone Leong edited their review of gene: FAM126A: Changed phenotypes: LEUKODYSTROPHY, HYPOMYELINATING, 5 (includes congenital cataract), 610532
Structural eye disease v0.49 FAM111A Ivone Leong edited their review of gene: FAM111A: Changed phenotypes: Kenny-Caffey syndrome, type 2, Gracile bone dysplasia, 127000, 602361
Structural eye disease v0.49 FADD Ivone Leong edited their review of gene: FADD: Changed phenotypes: Iris coloboma, retinal coloboma , None
Structural eye disease v0.49 EYA1 Ivone Leong edited their review of gene: EYA1: Changed phenotypes: Anterior segment anomalies with or without cataract, Branchiootic syndrome 1, 113650, 602588
Structural eye disease v0.49 EPHA2 Ivone Leong edited their review of gene: EPHA2: Changed phenotypes: Cataract 6, multiple types, 116600
Structural eye disease v0.49 EPG5 Ivone Leong edited their review of gene: EPG5: Changed phenotypes: Vici syndrome, 242840
Structural eye disease v0.49 DPYD Ivone Leong edited their review of gene: DPYD: Changed phenotypes: Dihydropyrimidine dehydrogenase deficiency , 274270
Structural eye disease v0.49 DHX38 Ivone Leong edited their review of gene: DHX38: Changed phenotypes: Retinitis Pigmentosa and Macular Coloboma, 618220
Structural eye disease v0.49 DHCR7 Ivone Leong edited their review of gene: DHCR7: Changed phenotypes: Smith-Lemli-Opitz syndrome, 270400
Structural eye disease v0.49 DCN Ivone Leong edited their review of gene: DCN: Changed phenotypes: Corneal dystrophy, congenital stromal, 610048
Structural eye disease v0.49 CTDP1 Ivone Leong edited their review of gene: CTDP1: Changed phenotypes: Congenital cataracts, facial dysmorphism, and neuropathy, 604168
Structural eye disease v0.49 CRYGS Ivone Leong edited their review of gene: CRYGS: Changed phenotypes: Cataract 20, multiple types, 116100
Structural eye disease v0.49 CRYGD Ivone Leong edited their review of gene: CRYGD: Changed phenotypes: Cataract 4, Multiple Types, 115700
Structural eye disease v0.49 CRYGC Ivone Leong edited their review of gene: CRYGC: Changed phenotypes: Cataract 2, multiple types (often with microcornea), 604307
Structural eye disease v0.49 CRYGB Ivone Leong edited their review of gene: CRYGB: Changed phenotypes: Cataract 39, multiple types, autosomal dominant, 615188
Structural eye disease v0.49 CRYBB3 Ivone Leong edited their review of gene: CRYBB3: Changed phenotypes: Cataract 22, autosomal recessive, 609741
Structural eye disease v0.49 CRYBB2 Ivone Leong edited their review of gene: CRYBB2: Changed phenotypes: Cataract 3, multiple types, 601547
Structural eye disease v0.49 CRYBB1 Ivone Leong edited their review of gene: CRYBB1: Changed phenotypes: Cataract 17, multiple types, 611544
Structural eye disease v0.49 CRYBA4 Ivone Leong edited their review of gene: CRYBA4: Changed phenotypes: Cataract 23 (and microphthalmia in 1 case), 610425
Structural eye disease v0.49 CRYBA1 Ivone Leong edited their review of gene: CRYBA1: Changed phenotypes: Cataract 10, multiple types, 600881
Structural eye disease v0.49 CRYAB Ivone Leong edited their review of gene: CRYAB: Changed phenotypes: CATARACT 16, MULTIPLE TYPES, 613763
Structural eye disease v0.49 CRYAA Ivone Leong edited their review of gene: CRYAA: Changed phenotypes: Cataract 9, multiple types (some patients also have microphthalmia and/or microcornea), 604219
Structural eye disease v0.49 CRIM1 Ivone Leong edited their review of gene: CRIM1: Changed phenotypes: Macrophthalmia, Colobomatous, with microcornea, 602499
Structural eye disease v0.49 COL8A2 Ivone Leong edited their review of gene: COL8A2: Changed phenotypes: Corneal dystrophy, Fuchs endothelial, 1, Corneal dystrophy, posterior polymorphous 2, 136800, 609140
Structural eye disease v0.49 COL18A1 Ivone Leong edited their review of gene: COL18A1: Changed phenotypes: Knobloch syndrome, type 1, 267750
Structural eye disease v0.49 CHST6 Ivone Leong edited their review of gene: CHST6: Changed phenotypes: Macular corneal dystrophy, 217800
Structural eye disease v0.49 CHRDL1 Ivone Leong edited their review of gene: CHRDL1: Changed phenotypes: Megalocornea 1, X-linked, 309300
Structural eye disease v0.49 CHMP4B Ivone Leong edited their review of gene: CHMP4B: Changed phenotypes: Cataract 31, multiple types, 605387
Structural eye disease v0.49 CBS Ivone Leong edited their review of gene: CBS: Changed phenotypes: Homocystinuria, B6-responsive and nonresponsive types (includes ectopia lentis), 236200
Structural eye disease v0.49 BFSP2 Ivone Leong edited their review of gene: BFSP2: Changed phenotypes: Cataract 12, multiple types, 611597
Structural eye disease v0.49 BFSP1 Ivone Leong edited their review of gene: BFSP1: Changed phenotypes: Cataract 33, 611391
Structural eye disease v0.49 ALDH18A1 Ivone Leong edited their review of gene: ALDH18A1: Changed phenotypes: Cutis laxa, autosomal recessive, type IIIA, 219150
Structural eye disease v0.49 AGPS Ivone Leong edited their review of gene: AGPS: Changed phenotypes: Rhizomelic chondrodysplasia punctata, type 3, 600121
Structural eye disease v0.49 AGK Ivone Leong edited their review of gene: AGK: Changed phenotypes: Sengers syndrome, Cataract 38, autosomal recessive, 212350, 614691
Structural eye disease v0.48 ZNF513 Ivone Leong edited their review of gene: ZNF513: Changed phenotypes: Retinitis pigmentosa 58, 613617
Structural eye disease v0.48 ZNF423 Ivone Leong edited their review of gene: ZNF423: Changed phenotypes: Joubert syndrome 19, 614844, Nephronophthisis 14, 614844
Structural eye disease v0.48 XPC Ivone Leong edited their review of gene: XPC: Changed phenotypes: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C, 278720
Structural eye disease v0.48 XPA Ivone Leong edited their review of gene: XPA: Changed phenotypes: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A, 278700
Structural eye disease v0.48 WT1 Ivone Leong edited their review of gene: WT1: Changed phenotypes: WILMS TUMOR,ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATION SYNDROME, 194072
Structural eye disease v0.48 WHRN Ivone Leong edited their review of gene: WHRN: Changed phenotypes: Usher syndrome, type 2D, 611383
Structural eye disease v0.48 WFS1 Ivone Leong edited their review of gene: WFS1: Changed phenotypes: Wolfram syndrome, 222300, Wolfram-like syndrome, autosomal dominant, 614296, ?Cataract 41, 116400
Structural eye disease v0.48 WDR36 Ivone Leong edited their review of gene: WDR36: Changed phenotypes: Glaucoma 1, open angle, G, 609887
Structural eye disease v0.48 WDPCP Ivone Leong edited their review of gene: WDPCP: Changed phenotypes: ?Bardet-Biedl syndrome 15, 615992
Structural eye disease v0.48 VCAN Ivone Leong edited their review of gene: VCAN: Changed phenotypes: Wagner syndrome 1, 143200
Structural eye disease v0.48 VAX1 Ivone Leong edited their review of gene: VAX1: Changed phenotypes: Microphthalmia, syndromic 11, 614402
Structural eye disease v0.48 USH2A Ivone Leong edited their review of gene: USH2A: Changed phenotypes: Retinitis pigmentosa 39, 613809, Usher syndrome type 2A, 276901
Structural eye disease v0.48 USH1G Ivone Leong edited their review of gene: USH1G: Changed phenotypes: Usher syndrome, type 1G, 606943
Structural eye disease v0.48 USH1C Ivone Leong edited their review of gene: USH1C: Changed phenotypes: Deafness, autosomal recessive 18A, 602092, Usher syndrome type 1C, 276904
Structural eye disease v0.48 UNC119 Ivone Leong edited their review of gene: UNC119: Changed phenotypes: Cone-rod dystrophy, Immunodeficiency 13, 615518
Structural eye disease v0.48 TYRP1 Ivone Leong edited their review of gene: TYRP1: Changed phenotypes: Albinism, oculocutaneous, type III, 203290, [Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)], 612271
Structural eye disease v0.48 TYR Ivone Leong edited their review of gene: TYR: Changed phenotypes: Albinism, oculocutaneous, type IA, 203100, Albinism, oculocutaneous, type IB, 606952, Waardenburg syndrome/albinism, digenic, 103470, [Skin/hair/eye pigmentation 3, blue/green eyes], [Skin/hair/eye pigmentation 3, light/dark/freckling skin], 601800, {Melanoma, cutaneous malignant, susceptibility to, 8}
Structural eye disease v0.48 TULP1 Ivone Leong edited their review of gene: TULP1: Changed phenotypes: Leber congenital amaurosis 15, Retinitis pigmentosa 14, 613843, 600132
Structural eye disease v0.48 TTC8 Ivone Leong edited their review of gene: TTC8: Changed phenotypes: Retinitis pigmentosa 51, 613464, Bardet-Biedl syndrome 8, 615985
Structural eye disease v0.48 TTC21B Ivone Leong edited their review of gene: TTC21B: Changed phenotypes: SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY, 613819
Structural eye disease v0.48 TSPAN12 Ivone Leong edited their review of gene: TSPAN12: Changed phenotypes: Exudative vitreoretinopathy 5, 613310
Structural eye disease v0.48 TRPM1 Ivone Leong edited their review of gene: TRPM1: Changed phenotypes: Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216
Structural eye disease v0.48 TRIM44 Ivone Leong edited their review of gene: TRIM44: Changed phenotypes: ANIRIDIA 3, 617142
Structural eye disease v0.48 TRIM32 Ivone Leong edited their review of gene: TRIM32: Changed phenotypes: Bardet-Biedl syndrome 11, 615988, Muscular dystrophy, limb-girdle, type 2H, 254110
Structural eye disease v0.48 TPP1 Ivone Leong edited their review of gene: TPP1: Changed phenotypes: CEROID LIPOFUSCINOSIS, NEURONAL, 2, 204500
Structural eye disease v0.48 TOPORS Ivone Leong edited their review of gene: TOPORS: Changed phenotypes: Retinitis pigmentosa 31, 609923
Structural eye disease v0.48 TMEM67 Ivone Leong edited their review of gene: TMEM67: Changed phenotypes: COACH syndrome, 216360, Joubert syndrome 6, 610688, Meckel syndrome 3, 607361, Nephronophthisis 11, 613550, {Bardet-Biedl syndrome 14, modifer of}, 615991
Structural eye disease v0.48 TMEM237 Ivone Leong edited their review of gene: TMEM237: Changed phenotypes: Joubert syndrome 14, 614424
Structural eye disease v0.48 TMEM231 Ivone Leong edited their review of gene: TMEM231: Changed phenotypes: Joubert syndrome 20, 614970, Meckel syndrome 11, 615397
Structural eye disease v0.48 TMEM216 Ivone Leong edited their review of gene: TMEM216: Changed phenotypes: Joubert syndrome 2, 608091, Meckel syndrome 2, 603194
Structural eye disease v0.48 TMEM138 Ivone Leong edited their review of gene: TMEM138: Changed phenotypes: Joubert syndrome 16, 614465
Structural eye disease v0.48 TMEM126A Ivone Leong edited their review of gene: TMEM126A: Changed phenotypes: Optic atrophy, 612989
Structural eye disease v0.48 TIMP3 Ivone Leong edited their review of gene: TIMP3: Changed phenotypes: Sorsby fundus dystrophy, 136900
Structural eye disease v0.48 TIMM8A Ivone Leong edited their review of gene: TIMM8A: Changed phenotypes: Mohr-Tranebjaerg syndrome, 304700
Structural eye disease v0.48 TFAP2A Ivone Leong edited their review of gene: TFAP2A: Changed phenotypes: Branchiooculofacial syndrome (includes ocular anomalies such as microphthalmia and lacrimal duct obstruction), 113620
Structural eye disease v0.48 TENM3 Ivone Leong edited their review of gene: TENM3: Changed phenotypes: Microphthalmia, isolated, with coloboma 9, 615145
Structural eye disease v0.48 TCTN3 Ivone Leong edited their review of gene: TCTN3: Changed phenotypes: Joubert syndrome 18, 614815, Orofaciodigital syndrome IV, 258860
Structural eye disease v0.48 TCTN2 Ivone Leong edited their review of gene: TCTN2: Changed phenotypes: Meckel syndrome 8, 613885, Joubert syndrome 24, 616654
Structural eye disease v0.48 TCTN1 Ivone Leong edited their review of gene: TCTN1: Changed phenotypes: Joubert syndrome 13, 614173
Structural eye disease v0.48 SPINT2 Ivone Leong edited their review of gene: SPINT2: Changed phenotypes: DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES, 270420
Structural eye disease v0.48 SPATA7 Ivone Leong edited their review of gene: SPATA7: Changed phenotypes: Leber congenital amaurosis 3, 604232, Retinitis pigmentosa, juvenile, autosomal recessive, 604232
Structural eye disease v0.48 SNRNP200 Ivone Leong edited their review of gene: SNRNP200: Changed phenotypes: Retinitis pigmentosa 33, 610359
Structural eye disease v0.48 SLC45A2 Ivone Leong edited their review of gene: SLC45A2: Changed phenotypes: Albinism, oculocutaneous, type IV, 606574, [Skin/hair/eye pigmentation 5, black/nonblack hair], [Skin/hair/eye pigmentation 5, dark/fair skin], [Skin/hair/eye pigmentation 5, dark/light eyes], 227240
Structural eye disease v0.48 SLC24A5 Ivone Leong edited their review of gene: SLC24A5: Changed phenotypes: ALBINISM, OCULOCUTANEOUS, TYPE VI, 113750
Structural eye disease v0.48 SLC24A1 Ivone Leong edited their review of gene: SLC24A1: Changed phenotypes: Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830
Structural eye disease v0.48 SIX3 Ivone Leong edited their review of gene: SIX3: Changed phenotypes: Holoprosencephaly 2, 157170
Structural eye disease v0.48 SEMA4A Ivone Leong edited their review of gene: SEMA4A: Changed phenotypes: Retinitis pigmentosa 35, 610282, Cone-rod dystrophy 10, 610283
Structural eye disease v0.48 SDCCAG8 Ivone Leong edited their review of gene: SDCCAG8: Changed phenotypes: Senior-Loken syndrome 7, 613615, Bardet-Biedl syndrome 16, 615993
Structural eye disease v0.48 SALL2 Ivone Leong edited their review of gene: SALL2: Changed phenotypes: Coloboma, ocular, autosomal recessive, 216820
Structural eye disease v0.48 SAG Ivone Leong edited their review of gene: SAG: Changed phenotypes: Oguchi disease-1, Retinitis pigmentosa 47, 258100, 613758
Structural eye disease v0.48 RS1 Ivone Leong edited their review of gene: RS1: Changed phenotypes: Retinoschisis, 312700
Structural eye disease v0.48 RPGRIP1 Ivone Leong edited their review of gene: RPGRIP1: Changed phenotypes: Cone-rod dystrophy 13, 608194, Leber congenital amaurosis 6, 613826
Structural eye disease v0.48 RPGR Ivone Leong edited their review of gene: RPGR: Changed phenotypes: Retinitis pigmentosa 3, 300029, Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455, Macular degeneration, X-linked atrophic, 300834, Cone-rod dystrophy, X-linked, 1, 304020
Structural eye disease v0.48 RPE65 Ivone Leong edited their review of gene: RPE65: Changed phenotypes: Leber congenital amaurosis 2, 204100
Structural eye disease v0.48 RP9 Ivone Leong edited their review of gene: RP9: Changed phenotypes: ?Retinitis pigmentosa 9, 180104
Structural eye disease v0.48 RP2 Ivone Leong edited their review of gene: RP2: Changed phenotypes: Retinitis pigmentosa 2, 312600
Structural eye disease v0.48 RP1 Ivone Leong edited their review of gene: RP1: Changed phenotypes: Retinitis pigmentosa 1, 180100
Structural eye disease v0.48 ROM1 Ivone Leong edited their review of gene: ROM1: Changed phenotypes: Retinitis pigmentosa 7, digenic, 608133
Structural eye disease v0.48 RLBP1 Ivone Leong edited their review of gene: RLBP1: Changed phenotypes: Bothnia retinal dystrophy, Newfoundland rod-cone dystrophy, Fundus albipunctatus, 607475, 607476, 136880
Structural eye disease v0.48 RIMS1 Ivone Leong edited their review of gene: RIMS1: Changed phenotypes: Cone-rod dystrophy 7, 603649
Structural eye disease v0.48 RHO Ivone Leong edited their review of gene: RHO: Changed phenotypes: Retinitis pigmentosa 4, autosomal dominant or recessive, 613731, Night blindness, congenital stationary, autosomal dominant 1, 610445, Fundus albipunctatus, 136880
Structural eye disease v0.48 RGS9BP Ivone Leong edited their review of gene: RGS9BP: Changed phenotypes: Bradyopsia, 608415
Structural eye disease v0.48 RGR Ivone Leong edited their review of gene: RGR: Changed phenotypes: Retinitis pigmentosa 44, 613769
Structural eye disease v0.48 RDH5 Ivone Leong edited their review of gene: RDH5: Changed phenotypes: Fundus albipunctatus, 136880
Structural eye disease v0.48 RDH12 Ivone Leong edited their review of gene: RDH12: Changed phenotypes: Leber congenital amaurosis 13, 612712
Structural eye disease v0.48 RD3 Ivone Leong edited their review of gene: RD3: Changed phenotypes: Leber congenital amaurosis 12, 610612
Structural eye disease v0.48 RBP3 Ivone Leong edited their review of gene: RBP3: Changed phenotypes: ?Retinitis pigmentosa 66, 615233
Structural eye disease v0.48 RAX2 Ivone Leong edited their review of gene: RAX2: Changed phenotypes: Cone-rod dystrophy 11, 610381, Macular degeneration, age-related, 6, 613757
Structural eye disease v0.48 PRPH2 Ivone Leong edited their review of gene: PRPH2: Changed phenotypes: Retinitis punctata albescens, 136880, Macular dystrophy, patterned, 1, 169150, Leber congenital amaurosis 18, 608133, Macular dystrophy, vitelliform, 3, 608161, Choriodal dystrophy, central areolar 2, 613105
Structural eye disease v0.48 PRPF8 Ivone Leong edited their review of gene: PRPF8: Changed phenotypes: Retinitis pigmentosa 13, 600059
Structural eye disease v0.48 PRPF6 Ivone Leong edited their review of gene: PRPF6: Changed phenotypes: Retinitis pigmentosa 60, 613983
Structural eye disease v0.48 PRPF31 Ivone Leong edited their review of gene: PRPF31: Changed phenotypes: Retinitis pigmentosa 11, 600138
Structural eye disease v0.48 PRPF3 Ivone Leong edited their review of gene: PRPF3: Changed phenotypes: Retinitis pigmentosa 18, 601414
Structural eye disease v0.48 PROM1 Ivone Leong edited their review of gene: PROM1: Changed phenotypes: Stargardt disease 4, 603786, Macular dystrophy, retinal, 2, 608051, Retinitis pigmentosa 41, 612095, Cone-rod dystrophy 12, 612657
Structural eye disease v0.48 PRCD Ivone Leong edited their review of gene: PRCD: Changed phenotypes: Retinitis pigmentosa 36, 610599
Structural eye disease v0.48 PPT1 Ivone Leong edited their review of gene: PPT1: Changed phenotypes: CEROID LIPOFUSCINOSIS, NEURONAL, 1, 256730
Structural eye disease v0.48 POLH Ivone Leong edited their review of gene: POLH: Changed phenotypes: XERODERMA PIGMENTOSUM, VARIANT TYPE, 278750
Structural eye disease v0.48 PLA2G5 Ivone Leong edited their review of gene: PLA2G5: Changed phenotypes: [Fleck retina, familial benign], 228980
Structural eye disease v0.48 PITX3 Ivone Leong edited their review of gene: PITX3: Changed phenotypes: Anterior segment mesenchymal dysgenesis, 107250, Cataract 11, multiple types, 610623
Structural eye disease v0.48 PITPNM3 Ivone Leong edited their review of gene: PITPNM3: Changed phenotypes: Cone-rod dystrophy 5, 600977
Structural eye disease v0.48 PHYH Ivone Leong edited their review of gene: PHYH: Changed phenotypes: Refsum disease, 266500
Structural eye disease v0.48 PEX7 Ivone Leong edited their review of gene: PEX7: Changed phenotypes: Rhizomelic chondrodysplasia punctata, type 1, 215100, Peroxisome biogenesis disorder 9B, 614879
Structural eye disease v0.48 PDZD7 Ivone Leong edited their review of gene: PDZD7: Changed phenotypes: Usher syndrome, type IIC, GPR98/PDZD7 digenic, 605472, Retinal disease in Usher syndrome type IIA, modifier of, 276901
Structural eye disease v0.48 PDE6H Ivone Leong edited their review of gene: PDE6H: Changed phenotypes: Achromatopsia 6, 610024
Structural eye disease v0.48 PDE6G Ivone Leong edited their review of gene: PDE6G: Changed phenotypes: Retinitis pigmentosa 57, 613582
Structural eye disease v0.48 PDE6C Ivone Leong edited their review of gene: PDE6C: Changed phenotypes: Cone dystrophy 4, 613093
Structural eye disease v0.48 PDE6B Ivone Leong edited their review of gene: PDE6B: Changed phenotypes: Night blindness, congenital stationary, autosomal dominant 2, Retinitis pigmentosa-40, 163500, 613801
Structural eye disease v0.48 PDE6A Ivone Leong edited their review of gene: PDE6A: Changed phenotypes: Retinitis pigmentosa 43, 613810
Structural eye disease v0.48 PCDH15 Ivone Leong edited their review of gene: PCDH15: Changed phenotypes: Usher syndrome, type 1D/F digenic, 601067, Usher syndrome, type 1F, 602083, Deafness, autosomal recessive 23, 609533
Structural eye disease v0.48 OPTN Ivone Leong edited their review of gene: OPTN: Changed phenotypes: Glaucoma 1, open angle, E, 137760
Structural eye disease v0.48 OPA3 Ivone Leong edited their review of gene: OPA3: Changed phenotypes: Optic atrophy 3 with cataract, 165300
Structural eye disease v0.48 OPA1 Ivone Leong edited their review of gene: OPA1: Changed phenotypes: Optic atrophy plus syndrome, 125250, Optic atrophy 1, 165500, Behr syndrome, Glaucoma, normal tension, susceptibility to, 210000
Structural eye disease v0.48 OFD1 Ivone Leong edited their review of gene: OFD1: Changed phenotypes: Joubert syndrome 10, 300804, ?Retinitis pigmentosa 23, 300424
Structural eye disease v0.48 OCA2 Ivone Leong edited their review of gene: OCA2: Changed phenotypes: Albinism, brown oculocutaneous, 203200, Albinism oculocutaneous, type II, [Skin/hair/eye pigmentation 1, blond/brown hair], 227220, [Skin/hair/eye pigmentation 1, blue/nonblue eyes]
Structural eye disease v0.48 OAT Ivone Leong edited their review of gene: OAT: Changed phenotypes: Gyrate atrophy of choroid and retina with or without ornithinemia, 258870
Structural eye disease v0.48 NYX Ivone Leong edited their review of gene: NYX: Changed phenotypes: Night blindness, congenital stationary (complete), 1A, X-linked, 310500
Structural eye disease v0.48 NTF4 Ivone Leong edited their review of gene: NTF4: Changed phenotypes: GLAUCOMA 1, OPEN ANGLE, O, 613100
Structural eye disease v0.48 NRL Ivone Leong edited their review of gene: NRL: Changed phenotypes: Retinitis pigmentosa 27, 613750
Structural eye disease v0.48 NR2E3 Ivone Leong edited their review of gene: NR2E3: Changed phenotypes: Retinitis pigmentosa 37, 611131, Enhanced S-cone syndrome, 268100
Structural eye disease v0.48 NPHP4 Ivone Leong edited their review of gene: NPHP4: Changed phenotypes: Nephronophthisis 4, 606966, Senior-Loken syndrome, 606996
Structural eye disease v0.48 NPHP3 Ivone Leong edited their review of gene: NPHP3: Changed phenotypes: Nephronophthisis 3, Meckel syndrome 7, Renal-hepatic-pancreatic dysplasia 1, 604387, 267010, 208540
Structural eye disease v0.48 NPHP1 Ivone Leong edited their review of gene: NPHP1: Changed phenotypes: Nephronophthisis 1, juvenile, Senior-Loken syndrome-1, Joubert syndrome 4, 256100, 266900, 609583
Structural eye disease v0.48 NDP Ivone Leong edited their review of gene: NDP: Changed phenotypes: Exudative vitreoretinopathy 2, X-linked, 305390, Norrie disease, 310600
Structural eye disease v0.48 NAA10 Ivone Leong edited their review of gene: NAA10: Changed phenotypes: Microphthalmia, syndromic 1, 309800
Structural eye disease v0.48 MYO7A Ivone Leong edited their review of gene: MYO7A: Changed phenotypes: Usher syndrome, type 1B, 276900, Deafness, autosomal recessive 2, Deafness, autosomal dominant 11, 601317
Structural eye disease v0.48 MTTP Ivone Leong edited their review of gene: MTTP: Changed phenotypes: Abetalipoproteinemia, 200100
Structural eye disease v0.48 MPLKIP Ivone Leong edited their review of gene: MPLKIP: Changed phenotypes: TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE, 234050
Structural eye disease v0.48 MKS1 Ivone Leong edited their review of gene: MKS1: Changed phenotypes: Bardet-Biedl syndrome 13, 615990, Meckel syndrome 1, 249000
Structural eye disease v0.48 MKKS Ivone Leong edited their review of gene: MKKS: Changed phenotypes: Bardet-Biedl syndrome 6, McKusick-Kaufman syndrome, 605231, 236700
Structural eye disease v0.48 MIR204 Ivone Leong edited their review of gene: MIR204: Changed phenotypes: RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT, 616722
Structural eye disease v0.48 MFSD8 Ivone Leong edited their review of gene: MFSD8: Changed phenotypes: CEROID LIPOFUSCINOSIS, NEURONAL, 7, 610951, MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT, 616170
Structural eye disease v0.47 MFN2 Ivone Leong edited their review of gene: MFN2: Changed phenotypes: Charcot-Marie-Tooth disease, type 2A2, 609260
Structural eye disease v0.47 MERTK Ivone Leong edited their review of gene: MERTK: Changed phenotypes: Retinitis pigmentosa 38, 613862
Structural eye disease v0.47 MAK Ivone Leong edited their review of gene: MAK: Changed phenotypes: Retinitis pigmentosa 62, 614181
Structural eye disease v0.47 LZTFL1 Ivone Leong edited their review of gene: LZTFL1: Changed phenotypes: Bardet-Biedl syndrome 17, 615994
Structural eye disease v0.47 LRP5 Ivone Leong edited their review of gene: LRP5: Changed phenotypes: Osteoporosis-pseudoglioma syndrome, 259770, Exudative vitreoretinopathy 4, 601813, Osteopetrosis, autosomal dominant 1, 607634, van Buchem disease, type 2
Structural eye disease v0.47 LRMDA Ivone Leong edited their review of gene: LRMDA: Changed phenotypes: ALBINISM, OCULOCUTANEOUS, TYPE VII, 615179
Structural eye disease v0.46 AGBL1 Ivone Leong Deleted their comment
Structural eye disease v0.46 AGBL1 Ivone Leong edited their review of gene: AGBL1: Added comment: Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Late onset corneal dystrophy, no evidence for involvement in structural eye disease; Changed phenotypes: Corneal dystrophy, Fuchs endothelial, 8, 615523
Structural eye disease v0.46 ADAMTSL4 Ivone Leong reviewed gene: ADAMTSL4: Rating: GREEN; Mode of pathogenicity: ; Publications: 20702823, 20141359, 25975359 ; Phenotypes: Ectopia lentis, isolated, autosomal recessive, Ectopia lentis et pupillae, 225100, 225200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.46 ADAMTS18 Ivone Leong reviewed gene: ADAMTS18: Rating: GREEN; Mode of pathogenicity: ; Publications: 23818446; Phenotypes: Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.45 ADAMTSL4 Ivone Leong Deleted their review
Structural eye disease v0.45 ADAMTS18 Ivone Leong Deleted their review
Structural eye disease v0.45 PTCH1 Ivone Leong Publications for gene: PTCH1 were set to 17001668; 16024850; 28496998
Structural eye disease v0.44 PTCH1 Ivone Leong Phenotypes for gene: PTCH1 were changed from Holoprosencephaly 7 (can include microphthalmia), 610828 to Holoprosencephaly 7 (can include microphthalmia), 610828; Corneal opacification and other ocular anomalies, 269400
Structural eye disease v0.43 PTCH1 Ivone Leong Publications for gene: PTCH1 were set to 17001668; 16024850
Structural eye disease v0.42 KMT2D Ivone Leong Classified gene: KMT2D as Amber List (moderate evidence)
Structural eye disease v0.42 KMT2D Ivone Leong Gene: kmt2d has been classified as Amber List (Moderate Evidence).
Structural eye disease v0.41 GJA8 Ivone Leong Publications for gene: GJA8 were set to 29464339
Structural eye disease v0.40 GJA8 Ivone Leong Publications for gene: GJA8 were set to
DDG2P v1.11 TTN Rebecca Foulger Publications for gene: TTN were set to 17444505; 29575618; 28040389
DDG2P v1.10 TTN Rebecca Foulger commented on gene: TTN: PMID:29691892 identify 30 patients from 27 families with 2 pathogenic TTN variants in trans. All patients had prenatal or early onset hypotonia and/or congenital contractures. Cardiac involvement was present in 46% of patients. The authors state that: to date, 16 patients from 12 families with a recessive prenatal or infant onset form of titinopathy have been reported.
DDG2P v1.10 TTN Rebecca Foulger Publications for gene: TTN were set to 17444505
DDG2P v1.9 TTN Rebecca Foulger commented on gene: TTN: PMID:28040389 (Fernández-Marmiesse et al 2017) report a newborn boy, first child of non-consanguineous parents with arthrogryposis multiplex congenita and severe axial hypotonia without cardiac involvement. The individual had a novel homozygous truncating variant c.38661_38665del in TTN, which is expressed only in the fetal skeletal isoform. A fetal ultrasound reported Clubfoot.
DDG2P v1.9 TTN Rebecca Foulger commented on gene: TTN: PMID:29575618 (Chervinsky et al 2018) evaluate a consanguineous family of Moslem Bedouin origin with lethal congenital contracture syndrome and a homozygous c.36122delC (p. P12041Lfs*20) variant in TTN. 8 affected individuals (newborns and fetuses) were studied. Six of the affecteds were diagnosed prenatally by fetal ultrasound and two were diagnosed at birth. One pregnancy was complicated with fetal hydrops, and polyhydramnios was noted in at least three affecteds.
Multiple monogenic benign skin tumours v0.8 MSH6 Anna de Burca gene: MSH6 was added
gene: MSH6 was added to Multiple monogenic benign skin tumours. Sources: Expert list
Mode of inheritance for gene: MSH6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MSH6 were set to Muir-Torre syndrome
Review for gene: MSH6 was set to AMBER
Added comment: There have been rare reports of MSH6 causing a Muir-Torre phenotype.
Sources: Expert list
Pigmentary skin disorders v0.8 TSC2 Anna de Burca reviewed gene: TSC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tuberous sclerosis-2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pigmentary skin disorders v0.8 TSC1 Anna de Burca reviewed gene: TSC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tuberous sclerosis-1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pigmentary skin disorders v0.8 KIT Anna de Burca reviewed gene: KIT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Piebaldism, Gastrointestinal stromal tumor, familial; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pigmentary skin disorders v0.8 NF1 Anna de Burca reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurofibromatosis, type 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vascular skin disorders v0.9 PTEN Rebecca Foulger Phenotypes for gene: PTEN were changed from Cowden syndrome 1, 158350 to Cowden syndrome 1, 158350; capillary venous malformations
Vascular skin disorders v0.8 PTEN Rebecca Foulger Classified gene: PTEN as Amber List (moderate evidence)
Vascular skin disorders v0.8 PTEN Rebecca Foulger Gene: pten has been classified as Amber List (Moderate Evidence).
Vascular skin disorders v0.7 PTEN Rebecca Foulger gene: PTEN was added
gene: PTEN was added to Vascular skin disorders. Sources: Other
Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PTEN were set to Cowden syndrome 1, 158350
Added comment: Added PTEN to the 'Vascular skin disorders' panel as suggested by Anna de Burca and Ellen Thomas, based on capillary malformations associated with (at least) Cowden syndrome. Rated PTEN as Amber awaiting clinical feedback from skin Webex call.
Sources: Other
Vascular skin disorders v0.6 ATM Rebecca Foulger Added comment: Comment on mode of inheritance: On advice from Anna de Burca and Ellen Thomas, changed MOI from 'both monoallelic and biallelic' to 'biallelic' only to match OMIM, which lists AR inheritance for 'Ataxia-telangiectasia, 208900'.
Vascular skin disorders v0.6 ATM Rebecca Foulger Mode of inheritance for gene: ATM was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Autosomal recessive primary hypertrophic osteoarthropathy v0.9 ACVR1 Rebecca Foulger Classified gene: ACVR1 as Amber List (moderate evidence)
Autosomal recessive primary hypertrophic osteoarthropathy v0.9 ACVR1 Rebecca Foulger Gene: acvr1 has been classified as Amber List (Moderate Evidence).
Autosomal recessive primary hypertrophic osteoarthropathy v0.8 ACVR1 Rebecca Foulger gene: ACVR1 was added
gene: ACVR1 was added to Autosomal recessive primary hypertrophic osteoarthropathy. Sources: Other
Mode of inheritance for gene: ACVR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ACVR1 were set to Fibrodysplasia ossificans progressiva, 135100
Added comment: Added ACVR1 as an Amber gene to the 'Autosomal recessive primary hypertrophic osteoarthropathy' panel as suggested by Ellen Thomas and Anna de Burca. Although the MOI is monoallelic for FOP (MIM:135100), the Testing Criteria for Clinical Indication R167 includes individuals with unexplained digital clubbing, AND either periostosis OR pachydermia.
Sources: Other
Cutaneous photosensitivity with a likely genetic cause v0.6 UVSSA Rebecca Foulger Classified gene: UVSSA as Green List (high evidence)
Cutaneous photosensitivity with a likely genetic cause v0.6 UVSSA Rebecca Foulger Gene: uvssa has been classified as Green List (High Evidence).
Cutaneous photosensitivity with a likely genetic cause v0.5 UVSSA Rebecca Foulger gene: UVSSA was added
gene: UVSSA was added to Cutaneous photosensitivity with a likely genetic cause. Sources: Other
Mode of inheritance for gene: UVSSA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UVSSA were set to 22466610
Phenotypes for gene: UVSSA were set to UV-sensitive syndrome 3, 614640
Added comment: Added UVSSA to the 'Cutaneous photosensitivity with a likely genetic cause' panel, as suggested by Anna de Burca and Ellen Thomas, because the Testing Criteria uses hydroa vacciniforme as an example condition for Clinical Indication R237. UVSSA is currently the only Green gene on the Hydroa vacciniforme panel (panel #310).
Sources: Other
Cutaneous photosensitivity with a likely genetic cause v0.4 RECQL4 Rebecca Foulger Classified gene: RECQL4 as Green List (high evidence)
Cutaneous photosensitivity with a likely genetic cause v0.4 RECQL4 Rebecca Foulger Gene: recql4 has been classified as Green List (High Evidence).
Cutaneous photosensitivity with a likely genetic cause v0.3 RECQL4 Rebecca Foulger gene: RECQL4 was added
gene: RECQL4 was added to Cutaneous photosensitivity with a likely genetic cause. Sources: Other
Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RECQL4 were set to 10319867; 10678659; 11102924; 11471165
Phenotypes for gene: RECQL4 were set to Rothmund-Thomson syndrome, 268400
Added comment: Added RECQL4 gene to the 'Cutaneous photosensitivity with a likely genetic cause' panel, as suggested by Anna de Burca and Ellen Thomas, because the Testing Criteria uses Rothmund Thompson syndrome as an example condition for Clinical Indication R237.
Sources: Other
Mosaic skin disorders - deep sequencing v0.9 IKBKG Rebecca Foulger Classified gene: IKBKG as Amber List (moderate evidence)
Mosaic skin disorders - deep sequencing v0.9 IKBKG Rebecca Foulger Gene: ikbkg has been classified as Amber List (Moderate Evidence).
Mosaic skin disorders - deep sequencing v0.8 IKBKG Rebecca Foulger gene: IKBKG was added
gene: IKBKG was added to Mosaic skin disorders - deep sequencing. Sources: Other
Mode of inheritance for gene: IKBKG 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: IKBKG were set to Ectodermal dysplasia and immunodeficiency 1, 300291; Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301; Incontinentia pigmenti, 308300
Added comment: Added IKBKG (NEMO) to the 'Mosaic skin disorders- deep sequencing' panel as suggested by Anna de Burca and Ellen Thomas, based on known mosaic skin phenotypes. Added IKBKG as an Amber gene awaiting clinical review at the first skin Webex call.
Sources: Other
Structural eye disease v0.39 FAT1 Ivone Leong reviewed gene: FAT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30862798, 12724416 ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 SMAD4 Ivone Leong reviewed gene: SMAD4: Rating: AMBER; Mode of pathogenicity: ; Publications: 20735985, 11977156; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.39 PRR12 Ivone Leong reviewed gene: PRR12: Rating: GREEN; Mode of pathogenicity: ; Publications: 29556724; Phenotypes: Myhre syndrome, 139210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.39 POMT2 Ivone Leong reviewed gene: POMT2: Rating: AMBER; Mode of pathogenicity: ; Publications: 15894594, 28815891; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 POMT1 Ivone Leong reviewed gene: POMT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 12369018, 15037715; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 OLFM2 Ivone Leong reviewed gene: OLFM2: Rating: AMBER; Mode of pathogenicity: ; Publications: 27844144; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.39 MITF Ivone Leong reviewed gene: MITF: Rating: GREEN; Mode of pathogenicity: ; Publications: 27889061; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 KIAA1109 Ivone Leong reviewed gene: KIAA1109: Rating: GREEN; Mode of pathogenicity: ; Publications: 29290337, 617822; Phenotypes: COMMAD syndrome, 617306; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 ISPD Ivone Leong edited their review of gene: ISPD: Added comment: Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). DB Roscioli: six families with microphthalmia and one with Peter's anomaly; Changed rating: GREEN; Changed publications: 22522421; Changed phenotypes: Alkuraya-Kucinskas syndrome; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 IPO13 Ivone Leong reviewed gene: IPO13: Rating: AMBER; Mode of pathogenicity: ; Publications: 29700284; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 GLI2 Ivone Leong reviewed gene: GLI2: Rating: AMBER; Mode of pathogenicity: ; Publications: 17096318, 21204792; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.39 FKRP Ivone Leong reviewed gene: FKRP: Rating: GREEN; Mode of pathogenicity: ; Publications: 20236121, 15121789, 19955119, 20675713 ; Phenotypes: Holoprosencephaly 9, 610829; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 EFTUD2 Ivone Leong reviewed gene: EFTUD2: Rating: AMBER; Mode of pathogenicity: ; Publications: 26118977; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5; Mode of inheritance: mONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.39 CPAMD8 Ivone Leong reviewed gene: CPAMD8: Rating: GREEN; Mode of pathogenicity: ; Publications: 27839872; Phenotypes: Mandibulofacial dysostosis, Guion-Almeida type, 610536; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 ZIC2 Ivone Leong reviewed gene: ZIC2: Rating: AMBER; Mode of pathogenicity: ; Publications: 21976454; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.39 ZEB2 Ivone Leong reviewed gene: ZEB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 16053902; Phenotypes: Holoprosencephaly 5, 609637; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.39 ZEB1 Ivone Leong reviewed gene: ZEB1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mowat-Wilson syndrome (Hirschsprung disease with bilateral iris and retinal coloboma and high myopia), 235730; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.39 WRN Ivone Leong reviewed gene: WRN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Corneal dystrophy, posterior polymorphous, 3, 609141, Corneal dystrophy, Fuchs endothelial, 6, 613270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 VSX1 Ivone Leong reviewed gene: VSX1: Rating: AMBER; Mode of pathogenicity: ; Publications: 15051220; Phenotypes: Werner syndrome, 277700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 VIM Ivone Leong reviewed gene: VIM: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Corneal dystrophy, posterior polymorphous, 1, 122000, Keratoconus 1, 148300, Craniofacial anomalies and anterior segment dysgenesis syndrome, 614195 ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 UBIAD1 Ivone Leong reviewed gene: UBIAD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cataract 30, pulverulent, 116300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.39 TMX3 Ivone Leong reviewed gene: TMX3: Rating: AMBER; Mode of pathogenicity: ; Publications: Chao et al 2010 PMID: 20485507; Phenotypes: Corneal dystrophy, Schnyder type, 121800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 TGFBI Ivone Leong reviewed gene: TGFBI: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Microphthalmia, coloboma, micrognathia, diaphragmatic hernia, None; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.39 TDRD7 Ivone Leong reviewed gene: TDRD7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Corneal dystrophy, epithelial basement membrane, Corneal dystrophy, Groenouw type I, Corneal dystrophy, lattice type I, Corneal dystrophy, Thiel-Behnke type, Corneal dystrophy, Avellino type, Corneal dystrophy, Reis-Bucklers type, Corneal dystrophy, lattice type IIIA, 121820, 121900, 122200, 602082, 607541, 608470, 608471; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 TCOF1 Ivone Leong reviewed gene: TCOF1: Rating: AMBER; Mode of pathogenicity: ; Publications: 8741923, 10888597; Phenotypes: Cataract 36, 613887; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 TBX22 Ivone Leong reviewed gene: TBX22: Rating: RED; Mode of pathogenicity: ; Publications: 22784330; Phenotypes: Treacher Collins syndrome 1 (eyelid coloboma), 154500; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Structural eye disease v0.39 TBC1D32 Ivone Leong reviewed gene: TBC1D32: Rating: AMBER; Mode of pathogenicity: ; Publications: 24285566; Phenotypes: ?Abruzzo-Erickson syndrome, 302905; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 TACSTD2 Ivone Leong reviewed gene: TACSTD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Orofaciodigital syndrome 9, 258865; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 SRD5A3 Ivone Leong reviewed gene: SRD5A3: Rating: GREEN; Mode of pathogenicity: ; Publications: 20637498, 20700148, 26219881; Phenotypes: Corneal dystrophy, gelatinous drop-like, 204870; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 SMCHD1 Ivone Leong reviewed gene: SMCHD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28067909, 28067911; Phenotypes: Kahrizi Syndrome (mental retardation, cataract, coloboma, kyphosis), 612713; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 SLC4A4 Ivone Leong reviewed gene: SLC4A4: Rating: GREEN; Mode of pathogenicity: ; Publications: 10545938, 11274232; Phenotypes: ARHINIA, CHOANAL ATRESIA, AND MICROPHTHALMIA, 603457; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 SLC4A11 Ivone Leong reviewed gene: SLC4A11: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Renal tubular acidosis, proximal, with ocular abnormalities, 604278; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 SLC38A8 Ivone Leong reviewed gene: SLC38A8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Corneal endothelial dystrophy and perceptive deafness, 217400, Corneal endothelial dystrophy 2, autosomal recessive, 217700, Corneal dystrophy, Fuchs endothelial, 4, 613268; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 SLC33A1 Ivone Leong reviewed gene: SLC33A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 SLC2A1 Ivone Leong reviewed gene: SLC2A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital cataracts, hearing loss, and neurodegeneration, 614482; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 SLC16A12 Ivone Leong reviewed gene: SLC16A12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, 608885; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 SIL1 Ivone Leong reviewed gene: SIL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cataract, juvenile, with microcornea and glucosuria, 612018; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 SH3PXD2B Ivone Leong reviewed gene: SH3PXD2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 20137777, 29100834 ; Phenotypes: Marinesco-Sjogren syndrome, 248800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 SEMA3E Ivone Leong reviewed gene: SEMA3E: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Frank-ter Haar syndrome, 249420; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.39 SEC23A Ivone Leong reviewed gene: SEC23A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: CHARGE, 214800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 SCLT1 Ivone Leong reviewed gene: SCLT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24285566, 29450879; Phenotypes: Craniolenticulosutural dysplasia, 607812; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 SC5D Ivone Leong reviewed gene: SC5D: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Orofaciodigital syndrome IX (a severe ciliopathy phenotype featuring midline cleft, microcephaly, and colobomatous microphthalmia/anophthalmia, one case only (Adly et al 2014), variant was classified as unknown significance by OMIM), None; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 SALL1 Ivone Leong reviewed gene: SALL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9973281, 16088922, 17221874; Phenotypes: LATHOSTEROLOSIS, 607330; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 PXDN Ivone Leong reviewed gene: PXDN: Rating: GREEN; Mode of pathogenicity: ; Publications: 24939590, 21907015, 29450879; Phenotypes: Townes-Brocks branchiootorenal-like syndrome, 107480; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 PTCH1 Ivone Leong reviewed gene: PTCH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 16024850, 17001668; Phenotypes: Corneal opacification and other ocular anomalies, 269400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 PRDM5 Ivone Leong reviewed gene: PRDM5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Holoprosencephaly 7 (can include microphthalmia), 610828; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 PQBP1 Ivone Leong reviewed gene: PQBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: 17033686; Phenotypes: Brittle cornea syndrome 2, 614170; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Structural eye disease v0.39 POLR1D Ivone Leong reviewed gene: POLR1D: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Renpenning syndrome (can include microphthalmia/coloboma), 309500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.39 POLR1C Ivone Leong reviewed gene: POLR1C: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Treacher-Collins Syndrome 2, 613717; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 PIKFYVE Ivone Leong reviewed gene: PIKFYVE: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Treacher-Collins Syndrome, 248390; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.39 PEX6 Ivone Leong reviewed gene: PEX6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Corneal fleck dystrophy, 121850; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 PEX5 Ivone Leong reviewed gene: PEX5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 4B, 614863; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 PEX3 Ivone Leong reviewed gene: PEX3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 2B, 202370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 PEX26 Ivone Leong reviewed gene: PEX26: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 10A (Zellweger), 603164; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 PEX2 Ivone Leong reviewed gene: PEX2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 7B, 614873; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 PEX19 Ivone Leong reviewed gene: PEX19: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 5A (Zellweger), 614866, Peroxisome biogenesis disorder 5B, 614867; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 PEX16 Ivone Leong reviewed gene: PEX16: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 12A (Zellweger), 614886; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 PEX14 Ivone Leong reviewed gene: PEX14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 8B, 614877; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 PEX13 Ivone Leong reviewed gene: PEX13: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 13A (Zellweger), 614887; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 PEX12 Ivone Leong reviewed gene: PEX12: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 11B, 614885; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 PEX11B Ivone Leong reviewed gene: PEX11B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 3B, 266510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 PEX10 Ivone Leong reviewed gene: PEX10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 14B, 614920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 PDE6D Ivone Leong reviewed gene: PDE6D: Rating: AMBER; Mode of pathogenicity: ; Publications: 24166846; Phenotypes: Peroxisome biogenesis disorder 6B, 614871; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 PAX3 Ivone Leong reviewed gene: PAX3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Joubert syndrome 22 (microphthalmia/optic nerve coloboma, intrauterine growth retardation, facial dysmorphism, postaxial polydactyly of feet, syndactyly, polydactyly, renal hypoplasia, extinguished electroretinogram), 615665; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 P3H2 Ivone Leong reviewed gene: P3H2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Waardenburg syndrome, type 3, 148820, Waardenburg syndrome, type 1, 193500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 OCRL Ivone Leong reviewed gene: OCRL: Rating: AMBER; Mode of pathogenicity: ; Publications: 19168822; Phenotypes: MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION, 614292; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Structural eye disease v0.39 NOTCH2 Ivone Leong reviewed gene: NOTCH2: Rating: RED; Mode of pathogenicity: ; Publications: 22173065; Phenotypes: Lowe syndrome, 309000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 NHS Ivone Leong reviewed gene: NHS: Rating: GREEN; Mode of pathogenicity: ; Publications: 28922055, 23566852, 17417607 ; Phenotypes: Hajdu-Cheney syndrome, 102500, Alagille syndrome 2, 610205; 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
Structural eye disease v0.39 NF2 Ivone Leong reviewed gene: NF2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cataract 40, X-linked, 302200, Nance-Horan syndrome, 302350; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 MYH9 Ivone Leong reviewed gene: MYH9: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neurofibromatosis, Type II, 101000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 MIR184 Ivone Leong reviewed gene: MIR184: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Epstein Syndrome, 153650, Fechtner syndrome, 153640 ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 MIP Ivone Leong reviewed gene: MIP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: EDICT syndrome, 614303; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 MAN2B1 Ivone Leong reviewed gene: MAN2B1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cataract 15, multiple types, 615274; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 LMX1B Ivone Leong reviewed gene: LMX1B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mannosidosis, alpha-, types I and II, 248500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 LIM2 Ivone Leong reviewed gene: LIM2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Nail-patella syndrome, 161200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 LCAT Ivone Leong reviewed gene: LCAT: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cataract 19, 615277; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 LAMB2 Ivone Leong reviewed gene: LAMB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30778388, 30120985, 28683731, 28188379, 27130041, 29450879; Phenotypes: Fish-eye disease, 136120, Norum disease, 245900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 KRT3 Ivone Leong reviewed gene: KRT3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Pierson syndrome, 609049, Nephrotic syndrome, type 5, with or without ocular abnormalities, 614199; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.39 KRT12 Ivone Leong reviewed gene: KRT12: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Meesmann corneal dystrophy, 122100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.39 KMT2D Ivone Leong reviewed gene: KMT2D: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Meesmann corneal dystrophy, 122100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 KERA Ivone Leong reviewed gene: KERA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Kabuki syndrome 1 (can include coloboma), 147920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 KAT6B Ivone Leong reviewed gene: KAT6B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cornea plana congenita, recessive, 217300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.39 JAM3 Ivone Leong reviewed gene: JAM3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: SBBYSS syndrome (blepharophimosis), 603736; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 ITPR1 Ivone Leong reviewed gene: ITPR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.39 ITPA Ivone Leong reviewed gene: ITPA: Rating: RED; Mode of pathogenicity: ; Publications: 26224535; Phenotypes: Gillespie syndrome, 206700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 HSF4 Ivone Leong reviewed gene: HSF4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Warburg Micro syndrome and Martsolf syndrome with variable cardiac manifestation, None; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 GSN Ivone Leong reviewed gene: GSN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cataract 5, multiple types, 116800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.39 GNPTG Ivone Leong reviewed gene: GNPTG: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Amyloidosis, Finnish type, 105120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 GJA8 Ivone Leong reviewed gene: GJA8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mucolipidosis III gamma, Retinitis Pigmentosa and skeletal abnormalities, 252605; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 GJA3 Ivone Leong reviewed gene: GJA3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cataract 1, multiple types, 116200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 GFER Ivone Leong reviewed gene: GFER: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cataract 14, multiple types, 601885; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 GCNT2 Ivone Leong reviewed gene: GCNT2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 GALT Ivone Leong reviewed gene: GALT: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cataract 13 with adult i phenotype, 116700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 GALK1 Ivone Leong reviewed gene: GALK1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Galactosemia, 230400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 FZD5 Ivone Leong reviewed gene: FZD5: Rating: AMBER; Mode of pathogenicity: ; Publications: 26908622; Phenotypes: Galactokinase deficiency with cataracts, 230200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 FYCO1 Ivone Leong reviewed gene: FYCO1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Coloboma, None; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 FTL Ivone Leong reviewed gene: FTL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cataract 18, autosomal recessive, 610019; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 FOXL2 Ivone Leong reviewed gene: FOXL2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperferritinemia-cataract syndrome, 600886; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 FNBP4 Ivone Leong reviewed gene: FNBP4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Blepharophimosis, epicanthus inversus, and ptosis, 110100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 FBN1 Ivone Leong reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 1301946, 8136837; Phenotypes: Microphthalmia with Limb anomalies (Classified as variant of unknown significance on OMIM), 206920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 FAM126A Ivone Leong reviewed gene: FAM126A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ectopia lentis, familial, 129600, Marfan syndrome, 154700, MASS syndrome, 604308, Weill-Marchesani syndrome 2, dominant, 608328, Marfan lipodystrophy syndrome, 616914; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 FAM111A Ivone Leong reviewed gene: FAM111A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: LEUKODYSTROPHY, HYPOMYELINATING, 5 (includes congenital cataract), 610532; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.39 FADD Ivone Leong reviewed gene: FADD: Rating: RED; Mode of pathogenicity: ; Publications: 17656375; Phenotypes: Kenny-Caffey syndrome, type 2, Gracile bone dysplasia, 127000, 602361; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.39 EYA1 Ivone Leong reviewed gene: EYA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Iris coloboma, retinal coloboma, None; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 EPHA2 Ivone Leong reviewed gene: EPHA2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Anterior segment anomalies with or without cataract, 113650, Branchiootic syndrome 1, 602588; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 EPG5 Ivone Leong reviewed gene: EPG5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cataract 6, multiple types, 116600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 DPYD Ivone Leong reviewed gene: DPYD: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Vici syndrome, 242840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 DHX38 Ivone Leong reviewed gene: DHX38: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dihydropyrimidine dehydrogenase deficiency , 274270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 DHCR7 Ivone Leong reviewed gene: DHCR7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis Pigmentosa and Macular Coloboma, 618220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 DCN Ivone Leong reviewed gene: DCN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Smith-Lemli-Opitz syndrome, 270400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.39 CYP51A1 Ivone Leong reviewed gene: CYP51A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Corneal dystrophy, congenital stromal, 610048; Mode of inheritance:
Structural eye disease v0.39 CTDP1 Ivone Leong reviewed gene: CTDP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 CRYGS Ivone Leong reviewed gene: CRYGS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital cataracts, facial dysmorphism, and neuropathy, 604168; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.39 CRYGD Ivone Leong reviewed gene: CRYGD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Cataract 20, multiple types, 116100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 CRYGC Ivone Leong reviewed gene: CRYGC: Rating: GREEN; Mode of pathogenicity: ; Publications: 24281366, 29386872; Phenotypes: Cataract 4, Multiple Types, 115700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 CRYGB Ivone Leong reviewed gene: CRYGB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cataract 2, multiple types (often with microcornea), 604307; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 CRYBB3 Ivone Leong reviewed gene: CRYBB3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cataract 39, multiple types, autosomal dominant, 615188; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 CRYBB2 Ivone Leong reviewed gene: CRYBB2: Rating: AMBER; Mode of pathogenicity: ; Publications: 29386872; Phenotypes: Cataract 22, autosomal recessive, 609741; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 CRYBB1 Ivone Leong reviewed gene: CRYBB1: Rating: AMBER; Mode of pathogenicity: ; Publications: 29386872; Phenotypes: Cataract 3, multiple types, 601547; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 CRYBA4 Ivone Leong reviewed gene: CRYBA4: Rating: AMBER; Mode of pathogenicity: ; Publications: 16960806, 20577656 ; Phenotypes: Cataract 17, multiple types, 611544; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 CRYBA1 Ivone Leong reviewed gene: CRYBA1: Rating: RED; Mode of pathogenicity: ; Publications: 26303524; Phenotypes: Cataract 23 (and microphthalmia in 1 case), 610425; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 CRYAB Ivone Leong reviewed gene: CRYAB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cataract 10, multiple types, 600881; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 CRYAA Ivone Leong reviewed gene: CRYAA: Rating: GREEN; Mode of pathogenicity: ; Publications: 17296897, 30340470, 18302245 ; Phenotypes: CATARACT 16, MULTIPLE TYPES, 613763; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 CRIM1 Ivone Leong reviewed gene: CRIM1: Rating: AMBER; Mode of pathogenicity: ; Publications: 26681494, 25561690; Phenotypes: Cataract 9, multiple types (some patients also have microphthalmia and/or microcornea), 604219; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 COL8A2 Ivone Leong reviewed gene: COL8A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Macrophthalmia, Colobomatous, with microcornea, 602499; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.39 COL18A1 Ivone Leong reviewed gene: COL18A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17546652, 22399687; Phenotypes: Corneal dystrophy, Fuchs endothelial, 1, 136800, Corneal dystrophy, posterior polymorphous 2, 609140; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 CHST6 Ivone Leong reviewed gene: CHST6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Knobloch syndrome, type 1, 267750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 CHRDL1 Ivone Leong reviewed gene: CHRDL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22284829; Phenotypes: Macular corneal dystrophy, 217800; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Structural eye disease v0.39 CHMP4B Ivone Leong reviewed gene: CHMP4B: Rating: RED; Mode of pathogenicity: ; Publications: 17701905; Phenotypes: Megalocornea 1, X-linked, 309300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 CBS Ivone Leong reviewed gene: CBS: Rating: GREEN; Mode of pathogenicity: ; Publications: 7611293, 24169224, 21626167, 11774777; Phenotypes: Cataract 31, multiple types, 605387; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 BFSP2 Ivone Leong reviewed gene: BFSP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Homocystinuria, B6-responsive and nonresponsive types (includes ectopia lentis), 236200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.39 BFSP1 Ivone Leong reviewed gene: BFSP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cataract 12, multiple types, 611597; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 ALDH18A1 Ivone Leong reviewed gene: ALDH18A1: Rating: RED; Mode of pathogenicity: ; Publications: 21739576; Phenotypes: Cataract 33, 611391; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 AGPS Ivone Leong reviewed gene: AGPS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cutis laxa, autosomal recessive, type IIIA, 219150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 AGK Ivone Leong reviewed gene: AGK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Rhizomelic chondrodysplasia punctata, type 3, 600121; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.39 AGBL1 Ivone Leong reviewed gene: AGBL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Sengers syndrome, 212350, Cataract 38, autosomal recessive, 614691; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.39 ADAMTSL4 Ivone Leong reviewed gene: ADAMTSL4: Rating: GREEN; Mode of pathogenicity: ; Publications: 20702823, 20141359, 25975359 ; Phenotypes: Corneal dystrophy, Fuchs endothelial, 8, 615523; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.39 ADAMTS18 Ivone Leong reviewed gene: ADAMTS18: Rating: GREEN; Mode of pathogenicity: ; Publications: 23818446; Phenotypes: Ectopia lentis, isolated, autosomal recessive, 225100, Ectopia lentis et pupillae, 225200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 ZNF513 Ivone Leong reviewed gene: ZNF513: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 ZNF423 Ivone Leong reviewed gene: ZNF423: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 58, 613617; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.38 XPC Ivone Leong reviewed gene: XPC: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Joubert syndrome 19, 614844, Nephronophthisis 14, 614844; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 XPA Ivone Leong reviewed gene: XPA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C, 278720; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 WT1 Ivone Leong reviewed gene: WT1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A, 278700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 WHRN Ivone Leong reviewed gene: WHRN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: WILMS TUMOR,ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATION SYNDROME, 194072; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 WFS1 Ivone Leong reviewed gene: WFS1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Usher syndrome, type 2D, 611383; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.38 WDR36 Ivone Leong reviewed gene: WDR36: Rating: RED; Mode of pathogenicity: ; Publications: 17353431, 18172102, 15677485; Phenotypes: Wolfram syndrome, 222300, Wolfram-like syndrome, autosomal dominant, 614296, ?Cataract 41, 116400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 WDPCP Ivone Leong reviewed gene: WDPCP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Glaucoma 1, open angle, G, 609887; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 VCAN Ivone Leong reviewed gene: VCAN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Bardet-Biedl syndrome 15, 615992; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 VAX1 Ivone Leong reviewed gene: VAX1: Rating: AMBER; Mode of pathogenicity: ; Publications: 10601035, 22095910; Phenotypes: Wagner syndrome 1, 143200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 USH2A Ivone Leong reviewed gene: USH2A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Microphthalmia, syndromic 11, 614402; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 USH1G Ivone Leong reviewed gene: USH1G: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 39, 613809, Usher syndrome type 2A, 276901; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 USH1C Ivone Leong reviewed gene: USH1C: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Usher syndrome, type 1G, 606943; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 UNC119 Ivone Leong reviewed gene: UNC119: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Deafness, autosomal recessive 18A, 602092, Usher syndrome type 1C, 276904; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 TYRP1 Ivone Leong reviewed gene: TYRP1: Rating: RED; Mode of pathogenicity: ; Publications: 10644000; Phenotypes: Cone-rod dystrophy, Immunodeficiency 13, 615518; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 TYR Ivone Leong reviewed gene: TYR: Rating: RED; Mode of pathogenicity: ; Publications: 28778995; Phenotypes: Albinism, oculocutaneous, type III, 203290, [Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)], 612271; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.38 TULP1 Ivone Leong reviewed gene: TULP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Albinism, oculocutaneous, type IA, 203100, Albinism, oculocutaneous, type IB, 606952, Waardenburg syndrome/albinism, digenic, 103470, [Skin/hair/eye pigmentation 3, blue/green eyes], [Skin/hair/eye pigmentation 3, light/dark/freckling skin], 601800, {Melanoma, cutaneous malignant, susceptibility to, 8}; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 TTC8 Ivone Leong reviewed gene: TTC8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Leber congenital amaurosis 15, Retinitis pigmentosa 14, 613843, 600132; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 TTC21B Ivone Leong reviewed gene: TTC21B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 51, 613464, Bardet-Biedl syndrome 8, 615985; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 TSPAN12 Ivone Leong reviewed gene: TSPAN12: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY, 613819; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 TRPM1 Ivone Leong reviewed gene: TRPM1: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Exudative vitreoretinopathy 5, 613310; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 TRIM44 Ivone Leong reviewed gene: TRIM44: Rating: RED; Mode of pathogenicity: ; Publications: 26394807; Phenotypes: Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 TRIM32 Ivone Leong reviewed gene: TRIM32: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ANIRIDIA 3, 617142; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 TPP1 Ivone Leong reviewed gene: TPP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Bardet-Biedl syndrome 11, 615988, Muscular dystrophy, limb-girdle, type 2H, 254110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 TP53BP2 Ivone Leong reviewed gene: TP53BP2: Rating: RED; Mode of pathogenicity: ; Publications: 28150229, 27447114, ; Phenotypes: CEROID LIPOFUSCINOSIS, NEURONAL, 2, 204500; Mode of inheritance:
Structural eye disease v0.38 TOPORS Ivone Leong reviewed gene: TOPORS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 TMEM67 Ivone Leong reviewed gene: TMEM67: Rating: GREEN; Mode of pathogenicity: ; Publications: 19058225, 30055837 ; Phenotypes: Retinitis pigmentosa 31, 609923; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 TMEM237 Ivone Leong reviewed gene: TMEM237: Rating: GREEN; Mode of pathogenicity: ; Publications: 22152675, 30055837 ; Phenotypes: COACH syndrome, 216360, Joubert syndrome 6, 610688, Meckel syndrome 3, 607361, Nephronophthisis 11, 613550, {Bardet-Biedl syndrome 14, modifer of}, 615991; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 TMEM231 Ivone Leong reviewed gene: TMEM231: Rating: RED; Mode of pathogenicity: ; Publications: 23012439, 23349226; Phenotypes: Joubert syndrome 14, 614424; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 TMEM216 Ivone Leong reviewed gene: TMEM216: Rating: GREEN; Mode of pathogenicity: ; Publications: 20512146, 30055837; Phenotypes: Joubert syndrome 20, 614970, Meckel syndrome 11, 615397; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 TMEM138 Ivone Leong reviewed gene: TMEM138: Rating: RED; Mode of pathogenicity: ; Publications: 22282472; Phenotypes: Joubert syndrome 2, 608091, Meckel syndrome 2, 603194; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 TMEM126A Ivone Leong reviewed gene: TMEM126A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Joubert syndrome 16, 614465; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 TIMP3 Ivone Leong reviewed gene: TIMP3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Optic atrophy, 612989; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 TIMM8A Ivone Leong reviewed gene: TIMM8A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Sorsby fundus dystrophy, 136900; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Structural eye disease v0.38 TFAP2A Ivone Leong reviewed gene: TFAP2A: Rating: GREEN; Mode of pathogenicity: ; Publications: 18423521, 19685247 ; Phenotypes: Mohr-Tranebjaerg syndrome, 304700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.38 TENM3 Ivone Leong reviewed gene: TENM3: Rating: GREEN; Mode of pathogenicity: ; Publications: 22766609, 27103084, 24859618, 29753094, 30513139; Phenotypes: Branchiooculofacial syndrome (includes ocular anomalies such as microphthalmia and lacrimal duct obstruction), 113620; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 TCTN3 Ivone Leong reviewed gene: TCTN3: Rating: RED; Mode of pathogenicity: ; Publications: 25118024, 29725084; Phenotypes: Microphthalmia, isolated, with coloboma 9, 615145; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 TCTN2 Ivone Leong reviewed gene: TCTN2: Rating: RED; Mode of pathogenicity: ; Publications: 21565611, 25118024; Phenotypes: Joubert syndrome 18, 614815, Orofaciodigital syndrome IV, 258860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 TCTN1 Ivone Leong reviewed gene: TCTN1: Rating: RED; Mode of pathogenicity: ; Publications: 21725307, 22693042; Phenotypes: Meckel syndrome 8, 613885, Joubert syndrome 24, 616654; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 SPINT2 Ivone Leong reviewed gene: SPINT2: Rating: RED; Mode of pathogenicity: ; Publications: 29575628, 24142340, ; Phenotypes: Joubert syndrome 13, 614173; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 SPATA7 Ivone Leong reviewed gene: SPATA7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES, 270420; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 SNRNP200 Ivone Leong reviewed gene: SNRNP200: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Leber congenital amaurosis 3, 604232, Retinitis pigmentosa, juvenile, autosomal recessive, 604232; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 SLC45A2 Ivone Leong reviewed gene: SLC45A2: Rating: RED; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Retinitis pigmentosa 33, 610359; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 SLC24A5 Ivone Leong reviewed gene: SLC24A5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Albinism, oculocutaneous, type IV, 606574, [Skin/hair/eye pigmentation 5, black/nonblack hair], [Skin/hair/eye pigmentation 5, dark/fair skin], [Skin/hair/eye pigmentation 5, dark/light eyes], 227240; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 SLC24A1 Ivone Leong reviewed gene: SLC24A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ALBINISM, OCULOCUTANEOUS, TYPE VI, 113750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 SIX3 Ivone Leong reviewed gene: SIX3: Rating: AMBER; Mode of pathogenicity: ; Publications: 21976454, 10369266, 21940735; Phenotypes: Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.38 SEMA4A Ivone Leong reviewed gene: SEMA4A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Holoprosencephaly 2, 157170; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.38 SDCCAG8 Ivone Leong reviewed gene: SDCCAG8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 35, 610282, Cone-rod dystrophy 10, 610283; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 SALL2 Ivone Leong reviewed gene: SALL2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: 24412933; Phenotypes: Senior-Loken syndrome 7, 613615, Bardet-Biedl syndrome 16, 615993; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 SAG Ivone Leong reviewed gene: SAG: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Coloboma, ocular, autosomal recessive, 216820; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 RS1 Ivone Leong reviewed gene: RS1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Oguchi disease-1, Retinitis pigmentosa 47, 258100, 613758; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Structural eye disease v0.38 RPGRIP1 Ivone Leong reviewed gene: RPGRIP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinoschisis, 312700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 RPGR Ivone Leong reviewed gene: RPGR: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Cone-rod dystrophy 13, 608194, Leber congenital amaurosis 6, 613826; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Structural eye disease v0.38 RPE65 Ivone Leong reviewed gene: RPE65: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 3, 300029, Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455, Macular degeneration, X-linked atrophic, 300834, Cone-rod dystrophy, X-linked, 1, 304020; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 RP9 Ivone Leong reviewed gene: RP9: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Leber congenital amaurosis 2, 204100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 RP2 Ivone Leong reviewed gene: RP2: Rating: RED; Mode of pathogenicity: ; Publications: 21738648; Phenotypes: ?Retinitis pigmentosa 9, 180104; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Structural eye disease v0.38 RP1 Ivone Leong reviewed gene: RP1: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Retinitis pigmentosa 2, 312600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 ROM1 Ivone Leong reviewed gene: ROM1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 1, 180100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.38 RLBP1 Ivone Leong reviewed gene: RLBP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 7, digenic, 608133; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.38 RIMS1 Ivone Leong reviewed gene: RIMS1: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: 28677725; Phenotypes: Bothnia retinal dystrophy, Newfoundland rod-cone dystrophy, Fundus albipunctatus, 607475, 607476, 136880; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 RHO Ivone Leong reviewed gene: RHO: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cone-rod dystrophy 7, 603649; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.38 RGS9BP Ivone Leong reviewed gene: RGS9BP: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Retinitis pigmentosa 4, autosomal dominant or recessive, 613731, Night blindness, congenital stationary, autosomal dominant 1, 610445, Fundus albipunctatus, 136880; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 RGS9 Ivone Leong reviewed gene: RGS9: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Bradyopsia, 608415; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 RGR Ivone Leong reviewed gene: RGR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Bradyopsia, 608415; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.38 RDH5 Ivone Leong reviewed gene: RDH5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 44, 613769; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 RDH12 Ivone Leong reviewed gene: RDH12: Rating: RED; Mode of pathogenicity: ; Publications: 25148430, 22065924; Phenotypes: Fundus albipunctatus, 136880; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 RD3 Ivone Leong reviewed gene: RD3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Leber congenital amaurosis 13, 612712; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 RBP3 Ivone Leong reviewed gene: RBP3: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Leber congenital amaurosis 12, 610612; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 RAX2 Ivone Leong reviewed gene: RAX2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Retinitis pigmentosa 66, 615233; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 PRPH2 Ivone Leong reviewed gene: PRPH2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cone-rod dystrophy 11, 610381, Macular degeneration, age-related, 6, 613757; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.38 PRPF8 Ivone Leong reviewed gene: PRPF8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis punctata albescens, 136880, Macular dystrophy, patterned, 1, 169150, Leber congenital amaurosis 18, 608133, Macular dystrophy, vitelliform, 3, 608161, Choriodal dystrophy, central areolar 2, 613105; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 PRPF6 Ivone Leong reviewed gene: PRPF6: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Retinitis pigmentosa 13, 600059; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 PRPF31 Ivone Leong reviewed gene: PRPF31: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 60, 613983; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 PRPF3 Ivone Leong reviewed gene: PRPF3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 11, 600138; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 PROM1 Ivone Leong reviewed gene: PROM1: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Retinitis pigmentosa 18, 601414; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.38 PRCD Ivone Leong reviewed gene: PRCD: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Stargardt disease 4, 603786, Macular dystrophy, retinal, 2, 608051, Retinitis pigmentosa 41, 612095, Cone-rod dystrophy 12, 612657; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 PPT1 Ivone Leong reviewed gene: PPT1: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Retinitis pigmentosa 36, 610599; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 POLH Ivone Leong reviewed gene: POLH: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: CEROID LIPOFUSCINOSIS, NEURONAL, 1, 256730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 PLA2G5 Ivone Leong reviewed gene: PLA2G5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: XERODERMA PIGMENTOSUM, VARIANT TYPE, 278750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 PITX3 Ivone Leong reviewed gene: PITX3: Rating: GREEN; Mode of pathogenicity: ; Publications: 20033184, 29405783, 9620774; Phenotypes: [Fleck retina, familial benign], 228980; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.38 PITPNM3 Ivone Leong reviewed gene: PITPNM3: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Anterior segment mesenchymal dysgenesis, 107250, Cataract 11, multiple types, 610623; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 PHYH Ivone Leong reviewed gene: PHYH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cone-rod dystrophy 5, 600977; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 PEX7 Ivone Leong reviewed gene: PEX7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Refsum disease, 266500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 PDZD7 Ivone Leong reviewed gene: PDZD7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Rhizomelic chondrodysplasia punctata, type 1, 215100, Peroxisome biogenesis disorder 9B, 614879; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 PDE6H Ivone Leong reviewed gene: PDE6H: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Usher syndrome, type IIC, GPR98/PDZD7 digenic, 605472, Retinal disease in Usher syndrome type IIA, modifier of, 276901; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.38 PDE6G Ivone Leong reviewed gene: PDE6G: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Achromatopsia 6, 610024; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 PDE6C Ivone Leong reviewed gene: PDE6C: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 57, 613582; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 PDE6B Ivone Leong reviewed gene: PDE6B: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Cone dystrophy 4, 613093; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.38 PDE6A Ivone Leong reviewed gene: PDE6A: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Night blindness, congenital stationary, autosomal dominant 2, Retinitis pigmentosa-40, 163500, 613801; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 PCDH15 Ivone Leong reviewed gene: PCDH15: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Retinitis pigmentosa 43, 613810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 OPTN Ivone Leong reviewed gene: OPTN: Rating: RED; Mode of pathogenicity: ; Publications: 11834836; Phenotypes: Usher syndrome, type 1D/F digenic, 601067, Usher syndrome, type 1F, 602083, Deafness, autosomal recessive 23, 609533; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 OPA3 Ivone Leong reviewed gene: OPA3: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Glaucoma 1, open angle, E, 137760; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.38 OPA1 Ivone Leong reviewed gene: OPA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Optic atrophy 3 with cataract, 165300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.38 OFD1 Ivone Leong reviewed gene: OFD1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: 28173652; Phenotypes: Optic atrophy plus syndrome, 125250, Optic atrophy 1, 165500, Behr syndrome, Glaucoma, normal tension, susceptibility to, 210000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Structural eye disease v0.38 OCA2 Ivone Leong reviewed gene: OCA2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Joubert syndrome 10, 300804, ?Retinitis pigmentosa 23, 300424; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 OAT Ivone Leong reviewed gene: OAT: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Albinism, brown oculocutaneous, 203200, Albinism oculocutaneous, type II, [Skin/hair/eye pigmentation 1, blond/brown hair], 227220, [Skin/hair/eye pigmentation 1, blue/nonblue eyes]; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 NYX Ivone Leong reviewed gene: NYX: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Gyrate atrophy of choroid and retina with or without ornithinemia, 258870; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Structural eye disease v0.38 NTF4 Ivone Leong reviewed gene: NTF4: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Night blindness, congenital stationary (complete), 1A, X-linked, 310500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 NRL Ivone Leong reviewed gene: NRL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: GLAUCOMA 1, OPEN ANGLE, O, 613100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 NR2E3 Ivone Leong reviewed gene: NR2E3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 27, 613750; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.38 NPHP4 Ivone Leong reviewed gene: NPHP4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 37, 611131, Enhanced S-cone syndrome, 268100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 NPHP3 Ivone Leong reviewed gene: NPHP3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Nephronophthisis 4, 606966, Senior-Loken syndrome, 606996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 NPHP1 Ivone Leong reviewed gene: NPHP1: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Nephronophthisis 3, Meckel syndrome 7, Renal-hepatic-pancreatic dysplasia 1, 604387, 267010, 208540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 NDP Ivone Leong reviewed gene: NDP: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 26130484, 29617172, 29321361, 17334993; Phenotypes: Nephronophthisis 1, juvenile, Senior-Loken syndrome-1, Joubert syndrome 4, 256100, 266900, 609583; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Structural eye disease v0.38 NAA10 Ivone Leong reviewed gene: NAA10: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 24431331, 30842225; Phenotypes: Exudative vitreoretinopathy 2, X-linked, 305390, Norrie disease, 310600; 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
Structural eye disease v0.38 MYO7A Ivone Leong reviewed gene: MYO7A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Microphthalmia, syndromic 1, 309800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.38 MTTP Ivone Leong reviewed gene: MTTP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Usher syndrome, type 1B, 276900, Deafness, autosomal recessive 2, Deafness, autosomal dominant 11, 601317 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 MPLKIP Ivone Leong reviewed gene: MPLKIP: Rating: RED; Mode of pathogenicity: ; Publications: 21959366; Phenotypes: Abetalipoproteinemia, 200100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 MKS1 Ivone Leong reviewed gene: MKS1: Rating: RED; Mode of pathogenicity: ; Publications: 23454480; Phenotypes: TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE, 234050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 MKKS Ivone Leong reviewed gene: MKKS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Bardet-Biedl syndrome 13, 615990, Meckel syndrome 1, 249000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 MIR204 Ivone Leong reviewed gene: MIR204: Rating: AMBER; Mode of pathogenicity: ; Publications: 26056285; Phenotypes: Bardet-Biedl syndrome 6, McKusick-Kaufman syndrome, 605231, 236700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 MFSD8 Ivone Leong reviewed gene: MFSD8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT, 616722; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 MFN2 Ivone Leong reviewed gene: MFN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: CEROID LIPOFUSCINOSIS, NEURONAL, 7, 610951, MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT, 616170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 MERTK Ivone Leong reviewed gene: MERTK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 2A2, 609260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 MAK Ivone Leong reviewed gene: MAK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 38, 613862; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 LZTFL1 Ivone Leong reviewed gene: LZTFL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 62, 614181; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 LRP5 Ivone Leong reviewed gene: LRP5: Rating: GREEN; Mode of pathogenicity: ; Publications: 29131652, 28111184, 20034086; Phenotypes: Bardet-Biedl syndrome 17, 615994; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.38 LRMDA Ivone Leong reviewed gene: LRMDA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Osteoporosis-pseudoglioma syndrome, 259770, Exudative vitreoretinopathy 4, 601813, Osteopetrosis, autosomal dominant 1, 607634, van Buchem disease, type 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 LRIT3 Ivone Leong reviewed gene: LRIT3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Night blindness, congenital stationary (complete), 1F, autosomal recessive, 615058; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 LRAT Ivone Leong reviewed gene: LRAT: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Leber congenital amaurosis 14, 613341; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 LCA5 Ivone Leong reviewed gene: LCA5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Leber congenital amaurosis 5, 604537; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 KLHL7 Ivone Leong reviewed gene: KLHL7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 42, 612943; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 KIF7 Ivone Leong reviewed gene: KIF7: Rating: RED; Mode of pathogenicity: ; Publications: 21633164; Phenotypes: Acrocallosal syndrom (JOUBERT SYNDROME 12), 200990; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 KCTD7 Ivone Leong reviewed gene: KCTD7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS, 611726; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 KCNV2 Ivone Leong reviewed gene: KCNV2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinal cone dystrophy 3B, 610356; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 KCNJ13 Ivone Leong reviewed gene: KCNJ13: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Leber congenital amaurosis 16, 614186, Snowflake vitreoretinal degeneration, 193230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.38 IQCB1 Ivone Leong reviewed gene: IQCB1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Senior-Loken syndrome 5: an autosomal recessive disorder with the main features of nephronophthisis (NPHP, see 256100) and Leber congenital amaurosis (LCA, see 204000) 609254; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 INVS Ivone Leong reviewed gene: INVS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Nephronophthisis 2, infantile, 602088; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 INPP5E Ivone Leong reviewed gene: INPP5E: Rating: GREEN; Mode of pathogenicity: ; Publications: 23386033, 30055837, 23022135; Phenotypes: Joubert syndrome 1, 213300, Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 IMPG2 Ivone Leong reviewed gene: IMPG2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 56, 613581, Macular dystrophy, vitelliform, 5, 616152; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 IMPDH1 Ivone Leong reviewed gene: IMPDH1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 10, 180105, Leber congenital amaurosis 11, 613837; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 IDH3B Ivone Leong reviewed gene: IDH3B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 46, 612572; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 HMGB3 Ivone Leong reviewed gene: HMGB3: Rating: AMBER; Mode of pathogenicity: ; Publications: 24993872; Phenotypes: ?Microphthalmia, syndromic 13, 300915; 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
Structural eye disease v0.38 HDAC6 Ivone Leong reviewed gene: HDAC6: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: 20181727; Phenotypes: CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, 300863; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Structural eye disease v0.38 HARS Ivone Leong reviewed gene: HARS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Usher syndrome type 3B, 614504, Charcot-Marie-Tooth disease, axonal, type 2W, 616625; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.38 GUCY2D Ivone Leong reviewed gene: GUCY2D: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Leber congenital amaurosis 1, 204000, Cone-rod dystrophy 6, 601777; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.38 GUCA1B Ivone Leong reviewed gene: GUCA1B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 48, 613827; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 GUCA1A Ivone Leong reviewed gene: GUCA1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cone dystrophy-3, 602093; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 GTF2H5 Ivone Leong reviewed gene: GTF2H5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE, 616395; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 GRN Ivone Leong reviewed gene: GRN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: CEROID LIPOFUSCINOSIS, NEURONAL, 11, 614706; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 GRM6 Ivone Leong reviewed gene: GRM6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 GPR179 Ivone Leong reviewed gene: GPR179: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 GPR143 Ivone Leong reviewed gene: GPR143: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Nystagmus 6, congenital, X-linked, 300814, Ocular albinism, type I, Nettleship-Falls type, 300500; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Structural eye disease v0.38 GNAT2 Ivone Leong reviewed gene: GNAT2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Achromatopsia-4,613856; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 GNAT1 Ivone Leong reviewed gene: GNAT1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Night blindness, congenital stationary, autosomal dominant 3, 610444, ?Night blindness, congenital stationary, type 1G, 616389; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 GDF6 Ivone Leong reviewed gene: GDF6: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 17236135, 20494911, 25457163, 24033328, 21070663; Phenotypes: KLIPPEL-FEIL SYNDROME 1(includes microphthalmia), 118100, Microphthalmia with coloboma 6, digenic (with GDF3), 613703, Microphthalmia, isolated 4, 613094 ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.38 GDF3 Ivone Leong reviewed gene: GDF3: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: 19864492; Phenotypes: Klippel-Feil Syndrome3, 613702, Microphthalmia with coloboma 6, 613703, Microphthalmia, isolated 7, 613704; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 FZD4 Ivone Leong reviewed gene: FZD4: Rating: AMBER; Mode of pathogenicity: ; Publications: 28413837, 30882657; Phenotypes: Exudative vitreoretinopathy 1, 133780; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 FSCN2 Ivone Leong reviewed gene: FSCN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 30, 607921; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 FLVCR1 Ivone Leong reviewed gene: FLVCR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia, posterior column, with retinitis pigmentosa, 609033; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 FAM161A Ivone Leong reviewed gene: FAM161A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 28, 606068; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 EYS Ivone Leong reviewed gene: EYS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 25, 602772; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 ERCC8 Ivone Leong reviewed gene: ERCC8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cockayne syndrome, type A, 216400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 ERCC6 Ivone Leong reviewed gene: ERCC6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebrooculofacioskeletal syndrome 1, 214150, Macular degeneration, age-related, susceptibility to 5, 613761; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 ERCC5 Ivone Leong reviewed gene: ERCC5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Xeroderma Pigmentosum, group G (includes microphthalmia and/or cataract), 278780, Cerebrooculofacioskeletal syndrome 3, 616570; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 ERCC4 Ivone Leong reviewed gene: ERCC4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F, 278760; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 ERCC3 Ivone Leong reviewed gene: ERCC3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, 616390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 ERCC2 Ivone Leong reviewed gene: ERCC2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, 601675; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 ERCC1 Ivone Leong reviewed gene: ERCC1: Rating: AMBER; Mode of pathogenicity: ; Publications: 17273966; Phenotypes: Cerebrooculofacioskeletal syndrome 4 (includes microphthalmia), 610758; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 ELP4 Ivone Leong reviewed gene: ELP4: Rating: RED; Mode of pathogenicity: ; Publications: 24290376, 29217025; Phenotypes: ANIRIDIA 2, 617141; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 ELOVL4 Ivone Leong reviewed gene: ELOVL4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Stargardt disease 3, 600110; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 EFEMP1 Ivone Leong reviewed gene: EFEMP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Doyne honeycomb degeneration of retina, 126600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 DHDDS Ivone Leong reviewed gene: DHDDS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 59, 613861; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 DDB2 Ivone Leong reviewed gene: DDB2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E, 278740; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 DDB1 Ivone Leong reviewed gene: DDB1: Rating: RED; Mode of pathogenicity: ; Publications: 17129780; Phenotypes: ; Mode of inheritance:
Structural eye disease v0.38 CYP4V2 Ivone Leong reviewed gene: CYP4V2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Bietti crystalline corneoretinal dystrophy, 210370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 CYP27A1 Ivone Leong reviewed gene: CYP27A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: CEREBROTENDINOUS XANTHOMATOSIS, 213700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 CTSD Ivone Leong reviewed gene: CTSD: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: CEROID LIPOFUSCINOSIS, NEURONAL, 10, 610127; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 CRX Ivone Leong reviewed gene: CRX: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cone-rod retinal dystrophy-2, 120970, Leber congenital amaurosis 7, 613829; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 CRB1 Ivone Leong reviewed gene: CRB1: Rating: AMBER; Mode of pathogenicity: ; Publications: 21484995, 23077403; Phenotypes: Leber congenital amaurosis 8, 613835, Retinitis pigmentosa-12, autosomal recessive, 600105, Pigmented paravenous chorioretinal atrophy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.38 COL9A2 Ivone Leong reviewed gene: COL9A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: STICKLER SYNDROME, TYPE V, 614284; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 COL9A1 Ivone Leong reviewed gene: COL9A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Stickler syndrome, type IV, 614134; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 COL2A1 Ivone Leong reviewed gene: COL2A1: Rating: AMBER; Mode of pathogenicity: ; Publications: 18541977, 17347327; Phenotypes: Vitreoretinopathy with phalangeal epiphyseal dysplasia, Stickler syndrome, type I, 108300, Epiphyseal dysplasia, multiple, with myopia and deafness, Kniest dysplasia, 156550, SED congenita, Stickler sydrome, type I, nonsyndromic ocular, 609508; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 COL11A2 Ivone Leong reviewed gene: COL11A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.38 COL11A1 Ivone Leong reviewed gene: COL11A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Stickler syndrome, type II, 604841, Marshall syndrome, 154780; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 CNNM4 Ivone Leong reviewed gene: CNNM4: Rating: AMBER; Mode of pathogenicity: ; Publications: 27419834; Phenotypes: Jalili syndrome, 217080; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 CNGB3 Ivone Leong reviewed gene: CNGB3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Macular degeneration, juvenile, 248200, Achromatopsia-3, 262300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 CNGB1 Ivone Leong reviewed gene: CNGB1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 45, 613767; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 CNGA3 Ivone Leong reviewed gene: CNGA3: Rating: RED; Mode of pathogenicity: ; Publications: 24504161; Phenotypes: Achromatopsia-2, 216900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 CNGA1 Ivone Leong reviewed gene: CNGA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 49, 613756; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 CLRN1 Ivone Leong reviewed gene: CLRN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Usher syndrome, type 3A, 276902, Retinitis pigmentosa 61, 614180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 CLN8 Ivone Leong reviewed gene: CLN8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 8, 600143; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 CLN6 Ivone Leong reviewed gene: CLN6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 6, 601780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 CLN5 Ivone Leong reviewed gene: CLN5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 5, 256731; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 CLN3 Ivone Leong reviewed gene: CLN3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 3, 204200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 CIB2 Ivone Leong reviewed gene: CIB2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Usher syndrome, type IJ, 614869; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 CHM Ivone Leong reviewed gene: CHM: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Choroideremia, 303100; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Structural eye disease v0.38 CERKL Ivone Leong reviewed gene: CERKL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 26, 608380; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 CEP41 Ivone Leong reviewed gene: CEP41: Rating: RED; Mode of pathogenicity: ; Publications: 22246503; Phenotypes: Joubert syndrome 15, 614464; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 CEP290 Ivone Leong reviewed gene: CEP290: Rating: GREEN; Mode of pathogenicity: ; Publications: 30055837, 22355252; Phenotypes: Joubert syndrome 5, 610188, Senior-Loken syndrome 6, 610189, Meckel syndrome 4, 611134, Leber congenital amaurosis 10, 611755, ?Bardet-Biedl syndrome 14, 615991; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 CDHR1 Ivone Leong reviewed gene: CDHR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cone-rod dystrophy 15, 613660; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 CDH3 Ivone Leong reviewed gene: CDH3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280, Hypotrichosis, congenital, with juvenile macular dystrophy, 601553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 CDH23 Ivone Leong reviewed gene: CDH23: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Usher syndrome, type 1D, 601067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 CACNA2D4 Ivone Leong reviewed gene: CACNA2D4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinal cone dystrophy 4, 610478; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 CACNA1F Ivone Leong reviewed gene: CACNA1F: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071, Cone-rod dystropy, X-linked, 3, 300476, Aland Island eye disease, 300600; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Structural eye disease v0.38 CABP4 Ivone Leong reviewed gene: CABP4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Night blindness, congenital stationary (incomplete), 2B, autosomal recessive, 610427; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 CA4 Ivone Leong reviewed gene: CA4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 17, 600852; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.38 C8orf37 Ivone Leong reviewed gene: C8orf37: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cone-rod dystrophy 16, 614500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 C5orf42 Ivone Leong reviewed gene: C5orf42: Rating: RED; Mode of pathogenicity: ; Publications: 24178751; Phenotypes: Joubert syndrome 17, 614615; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 C2orf71 Ivone Leong reviewed gene: C2orf71: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 54, 613428; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 C1QTNF5 Ivone Leong reviewed gene: C1QTNF5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinal degeneration, late-onset, autosomal dominant, 605670; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.38 BMPR1A Ivone Leong reviewed gene: BMPR1A: Rating: AMBER; Mode of pathogenicity: ; Publications: 29522511; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 BMP7 Ivone Leong reviewed gene: BMP7: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: 20506283, 7590254; Phenotypes: Microphthalmia, anophthalmia, systemic abnormalities, intellectual disability, None; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.38 BEST1 Ivone Leong reviewed gene: BEST1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15452077, 21473666 ; Phenotypes: Vitelliform Macular degeneration 2, 153700, Microcornea, rod-cone dystrophy, cataract, and posterior, staphyloma, Bestrophinopathy, autosomal recessive, 611809, Retinitis pigmentosa, concentric, 613194, 193220; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.38 BBS9 Ivone Leong reviewed gene: BBS9: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Bardet-Biedl syndrome9, 615986; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 BBS7 Ivone Leong reviewed gene: BBS7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Bardet-Biedl syndrome7, 615984; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 BBS5 Ivone Leong reviewed gene: BBS5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Bardet-Biedl syndrome5, 615983; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 BBS4 Ivone Leong reviewed gene: BBS4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Bardet-Biedl syndrome4, 615982; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 BBS2 Ivone Leong reviewed gene: BBS2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Bardet-Biedl syndrome2, 615981, Retinitis pigmentosa 74, 616562; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 BBS12 Ivone Leong reviewed gene: BBS12: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Bardet-Biedl syndrome12, 615989; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 BBS10 Ivone Leong reviewed gene: BBS10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Bardet-Biedl syndrome10, 615987; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 BBS1 Ivone Leong reviewed gene: BBS1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Bardet-Biedl syndrome1, 209900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 B3GLCT Ivone Leong reviewed gene: B3GLCT: Rating: GREEN; Mode of pathogenicity: ; Publications: 16909395, 18798333, 19796186; Phenotypes: Peters-plus syndrome 261540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 ATP13A2 Ivone Leong reviewed gene: ATP13A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: KUFOR-RAKEB SYNDROME, 606693, SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE, 617225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 ATOH7 Ivone Leong reviewed gene: ATOH7: Rating: GREEN; Mode of pathogenicity: ; Publications: 1838, 8779, 22068589, 11493566 ; Phenotypes: Persistent hyperplastic primary vitreous, autosomal recessive (can include microphthalmia), 221900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 ASB10 Ivone Leong reviewed gene: ASB10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: GLAUCOMA 1, OPEN ANGLE, F, 603383; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 ARL6 Ivone Leong reviewed gene: ARL6: Rating: RED; Mode of pathogenicity: ; Publications: 19097054; Phenotypes: Retinitis pigmentosa 55, 613575, Bardet-Biedl syndrome 3, 600151, {Bardet-Biedl syndrome 1, modifier of} 209900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 ARL13B Ivone Leong reviewed gene: ARL13B: Rating: RED; Mode of pathogenicity: ; Publications: 18674751, 25138100; Phenotypes: Joubert syndrome 8 612291; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 ALMS1 Ivone Leong reviewed gene: ALMS1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Alstrom syndrome 203800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 AIPL1 Ivone Leong reviewed gene: AIPL1: Rating: AMBER; Mode of pathogenicity: ; Publications: 25148430; Phenotypes: Cone-rod dystrophy, Leber congenital amaurosis 4, 604393, Retinitis pigmentosa, juvenile; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 AHI1 Ivone Leong reviewed gene: AHI1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Joubert syndrome 3, 608629; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 ADGRV1 Ivone Leong reviewed gene: ADGRV1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Usher syndrome, type 2C, 605472; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 ADAM9 Ivone Leong reviewed gene: ADAM9: Rating: RED; Mode of pathogenicity: ; Publications: 25091951; Phenotypes: Cone-rod dystrophy 9, 612775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 ABHD12 Ivone Leong reviewed gene: ABHD12: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 612674; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 ABCB6 Ivone Leong reviewed gene: ABCB6: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 22226084; Phenotypes: Microphthalmia, isolated, with coloboma 7 614497; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.38 ABCA4 Ivone Leong reviewed gene: ABCA4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cone-rod dystrophy 3, 604116, Fundus flavimaculatus, Retinal dystrophy, early-onset severe, Retinitis pigmentosa 19, 601718, Stargardt disease 1, 248200, {Macular degeneration, age-related, 2}, 153800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 TUBGCP4 Ivone Leong reviewed gene: TUBGCP4: Rating: GREEN; Mode of pathogenicity: ; Publications: 25817018; Phenotypes: Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 SBF2 Ivone Leong reviewed gene: SBF2: Rating: GREEN; Mode of pathogenicity: ; Publications: 12687498, 15304601; Phenotypes: Charcot-Marie-Tooth disease, type 4B2 604563, CMT with early onset glaucoma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 RBP4 Ivone Leong reviewed gene: RBP4: Rating: GREEN; Mode of pathogenicity: ; Publications: 9888420, 27892788, 25910211 ; Phenotypes: Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, 615147; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 PIGL Ivone Leong reviewed gene: PIGL: Rating: GREEN; Mode of pathogenicity: ; Publications: 22444671; Phenotypes: CHIME syndrome, 280000, Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,Mental Retardation, and Ear Anomalies Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 MAF Ivone Leong reviewed gene: MAF: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 12642301, 17982426; Phenotypes: Cataract 21, multiple types 610202; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.38 LRP2 Ivone Leong reviewed gene: LRP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 17632512, 8266995, 18553518; Phenotypes: Donnai-Barrow syndrome, 222448; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 IGBP1 Ivone Leong reviewed gene: IGBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: 14556245; Phenotypes: Corpus callosum, agenesis of, with mental retardation, ocular coloboma andmicrognathia, 300472; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Structural eye disease v0.38 HMX1 Ivone Leong reviewed gene: HMX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 18423520, 21417677, 25574057, 29140751; Phenotypes: Oculoauricular syndrome 612109; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 GJA1 Ivone Leong reviewed gene: GJA1: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 21273537, 25976645, 15637728, 24508941, 30628995; Phenotypes: Oculodentodigital dysplasia, open angle glaucoma (OAG) and microcornea; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.38 DDX58 Ivone Leong reviewed gene: DDX58: Rating: GREEN; Mode of pathogenicity: ; Publications: 25620203, 30574673; Phenotypes: Atypical Singleton-Merton syndrome (AD) - glaucoma and skeletal abnormalities.; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 YAP1 Ivone Leong reviewed gene: YAP1: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 24462371, 27267789, 28801591 ; Phenotypes: isolated ocular coloboma, Coloboma, ocular, 120433, Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mentalretardation, 120433; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.38 VSX2 Ivone Leong reviewed gene: VSX2: Rating: GREEN; Mode of pathogenicity: ; Publications: 10932181, 20414678 ; Phenotypes: Microphthalmia with coloboma 3, 610092; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 TMEM98 Ivone Leong reviewed gene: TMEM98: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 26392740, 24852644; Phenotypes: NNO4 Nanophthalmos 4, 615972; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Structural eye disease v0.38 TBC1D20 Ivone Leong reviewed gene: TBC1D20: Rating: GREEN; Mode of pathogenicity: ; Publications: 24239381; Phenotypes: Warburg micro syndrome 4, 615663; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 STRA6 Ivone Leong reviewed gene: STRA6: Rating: GREEN; Mode of pathogenicity: ; Publications: 17273977, 24859618; Phenotypes: Syndromic Microphthalmia, Recessive, Microphthalmia, isolated, with coloboma 8, 601186, Microphthalmia, syndromic 9, 601186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 SOX2 Ivone Leong reviewed gene: SOX2: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 12612584, 24859618; Phenotypes: Microphthalmia, syndromic 3 206900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.38 SMOC1 Ivone Leong reviewed gene: SMOC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21194678, 21194680, 30445150; Phenotypes: Microphthalmia with limb anomalies, 206920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 SMO Ivone Leong reviewed gene: SMO: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 27236920; Phenotypes: Curry-Jones syndrome, somatic mosaic 601707; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Structural eye disease v0.38 SIX6 Ivone Leong reviewed gene: SIX6: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 23167593, 24702266, 29450879, 15266624; Phenotypes: Microphthalmia with cataract 2, 212550, Optic disc anomalies with retinal and/or macular dystrophy, 212550, Anophthalmia/Microphthalmia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown - Change; Current diagnostic: yes
Structural eye disease v0.38 SHH Ivone Leong reviewed gene: SHH: Rating: GREEN; Mode of pathogenicity: ; Publications: 12503095, 20425842; Phenotypes: Holoprosencephaly-3, 142945, Microphthalmia with coloboma 5, 611638, Single median maxillary central incisor, 147250, Schizencephaly, 269160; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Structural eye disease v0.38 SALL4 Ivone Leong reviewed gene: SALL4: Rating: GREEN; Mode of pathogenicity: ; Publications: 12843316, 6426304; Phenotypes: Duane-radial ray syndrome, 607323; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.38 RPGRIP1L Ivone Leong reviewed gene: RPGRIP1L: Rating: GREEN; Mode of pathogenicity: ; Publications: 19574260; Phenotypes: COACH syndrome, 216360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 RAX Ivone Leong reviewed gene: RAX: Rating: GREEN; Mode of pathogenicity: ; Publications: 14662654, 18783408, 24033328; Phenotypes: Anophthalmia/Microphthalmia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 RARB Ivone Leong reviewed gene: RARB: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 24859618; Phenotypes: Microphthalmia, syndromic 12, 615524; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 RAB3GAP2 Ivone Leong reviewed gene: RAB3GAP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23420520; Phenotypes: Martsolf syndrome, 212720, Warburg micro syndrome 2, 614225, Warburg Micro Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 RAB3GAP1 Ivone Leong reviewed gene: RAB3GAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21473985; Phenotypes: Warburg micro syndrome 1, 600118, Warburg Micro Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 RAB18 Ivone Leong reviewed gene: RAB18: Rating: GREEN; Mode of pathogenicity: ; Publications: 21473985; Phenotypes: Warburg micro syndrome 3, 614222, Warburg Micro Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 PUF60 Ivone Leong reviewed gene: PUF60: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 19464398, 24140112, 27804958, 28327570; Phenotypes: Verheij syndrome, 615583, VRJS, ocular abnormalities, PUF60 syndrome, Chromosome 8q24.3 deletion syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.38 PRSS56 Ivone Leong reviewed gene: PRSS56: Rating: GREEN; Mode of pathogenicity: ; Publications: 29450879; Phenotypes: Microphthalmia, isolated 6, 613517; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 PORCN Ivone Leong reviewed gene: PORCN: Rating: GREEN; Mode of pathogenicity: ; Publications: 17546030, 24859618; Phenotypes: Focal dermal hypoplasia 305600; 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
Structural eye disease v0.38 PITX2 Ivone Leong reviewed gene: PITX2: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 9685346, 9618168, 10051017, 8944018, 18723525, 11487566; Phenotypes: Anterior segment dysgenesis 4 137600, Axenfeld-Rieger syndrome, type 1 180500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Structural eye disease v0.38 PAX6 Ivone Leong reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 12552561, 11826019, 11553050, 17406642, 7666404, 17595013, 8111379, 7550230, 7951315, 9931324, 1302030, 19876904, 17148041; Phenotypes: Anophthalmia, Gillespie syndrome, 206700, Cataract with late-onset corneal dystrohpy, 106210, ?Morning glory disc anomaly, 120430, Aniridia, 106210, Peters anomaly, 604229, Coloboma of optic nerve, 120430, Aniridia 106210, Foveal hypoplasia 1, 136520, Keratitis, 148190, Optic nerve hypoplasia, 165550, Coloboma, ocular, 120200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.38 PAX2 Ivone Leong reviewed gene: PAX2: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 8589702, 22213154, 10533062; Phenotypes: Papillorenal syndrome 120330; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.38 OTX2 Ivone Leong reviewed gene: OTX2: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 15846561, 18781617, 24859618; Phenotypes: OTX2-Related Syndromic Microphthalmia, severe, bilateral cases, Microphthalmia, syndromic 5, 610125; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.38 MYOC Ivone Leong reviewed gene: MYOC: Rating: GREEN; Mode of pathogenicity: ; Publications: 9535666, 12522550, 9345106, 9328473, 9005853, 9697688, 10330365; Phenotypes: Glaucoma 1A, primary open angle, 137750; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 MFRP Ivone Leong reviewed gene: MFRP: Rating: GREEN; Mode of pathogenicity: ; Publications: 29450879; Phenotypes: Microphthalmia, isolated 5, 611040, Isolated Microphthalmia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 MAB21L2 Ivone Leong reviewed gene: MAB21L2: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 24906020, 25719200; Phenotypes: Microphthalmia, syndromic 14, 615877; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 LTBP2 Ivone Leong reviewed gene: LTBP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19656777, 19361779, 21081970, 20179738; Phenotypes: Glaucoma 3, primary congenital, D 613086, Primary Congenital Glaucoma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 HCCS Ivone Leong reviewed gene: HCCS: Rating: GREEN; Mode of pathogenicity: ; Publications: 17033964, 24859618; Phenotypes: Linear skin defects with multiple congenital anomalies 1, 309801, Microphthalmia, syndromic 7, 309801; 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
Structural eye disease v0.38 GRIP1 Ivone Leong reviewed gene: GRIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22510445; Phenotypes: FRASER SYNDROME 3 617667; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 FREM2 Ivone Leong reviewed gene: FREM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 15838507; Phenotypes: FRASER SYNDROME 2 617666; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 FREM1 Ivone Leong reviewed gene: FREM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21507892; Phenotypes: MANITOBA OCULOTRICHOANAL SYNDROME 248450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 FRAS1 Ivone Leong reviewed gene: FRAS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 12766769; Phenotypes: FRASER SYNDROME 1 219000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 FOXE3 Ivone Leong reviewed gene: FOXE3: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 11159941, 21150893, 27218149, 16826526, 20361012, 24859618, 19708017; Phenotypes: Anterior segment dysgenesis 2, multiple subtypes 610256, Anterior segment mesenchymal dysgenesis 107250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 FOXD3 Ivone Leong reviewed gene: FOXD3: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 22815627; Phenotypes: aniridia, Peters anomaly, Anterior segment dysgenesis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.38 FOXC1 Ivone Leong reviewed gene: FOXC1: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 9620769, 10713890, 12036988, 17210863, 12614756, 11007653; Phenotypes: Anterior segment dysgenesis 3, multiple subtypes 601631, Axenfeld-Rieger syndrome, type 3 602482; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.38 CYP1B1 Ivone Leong reviewed gene: CYP1B1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9463332, 9097971, 9497261, 12372064; Phenotypes: Glaucoma 3, Primary Congenital, A, GLC3A, 231300, Peters anomaly, 604229, Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, primary congenital glaucoma, Primary Congenital Glaucoma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 COL4A1 Ivone Leong reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 24628545, 30181649; Phenotypes: BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES 175780; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Structural eye disease v0.38 CLDN19 Ivone Leong reviewed gene: CLDN19: Rating: GREEN; Mode of pathogenicity: ; Publications: 17033971, 500385; Phenotypes: Hypomagnesemia 5, renal, with ocular involvement, 248190; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 CHD7 Ivone Leong reviewed gene: CHD7: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 16400610; Phenotypes: CHARGE syndrome, 214800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.38 CC2D2A Ivone Leong reviewed gene: CC2D2A: Rating: GREEN; Mode of pathogenicity: ; Publications: 19574260; Phenotypes: COACH syndrome, 216360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 C12orf57 Ivone Leong reviewed gene: C12orf57: Rating: GREEN; Mode of pathogenicity: ; Publications: 23453665 24859618; Phenotypes: Temtamy syndrome, 218340; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 BMP4 Ivone Leong reviewed gene: BMP4: Rating: AMBER; Mode of pathogenicity: ; Publications: 18252212, 2427285; Phenotypes: Orofacial cleft 11, 600625, BMP4-Related Syndromic Microphthalmia, Microphthalmia, syndromic 6, 607932; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Structural eye disease v0.38 BCOR Ivone Leong reviewed gene: BCOR: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 15004558, 17517692, 29974297; Phenotypes: Microphthalmia, syndromic 2, 300166; 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
Structural eye disease v0.38 ALDH1A3 Ivone Leong reviewed gene: ALDH1A3: Rating: GREEN; Mode of pathogenicity: ; Publications: 24859610, 23591992; Phenotypes: Microphthalmia, isolated 8 615113; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 ADAMTS17 Ivone Leong reviewed gene: ADAMTS17: Rating: GREEN; Mode of pathogenicity: ; Publications: 19836009; Phenotypes: Weill-Marchesani-like syndrome- lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature, but no brachydactyly (AR); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 ADAMTS10 Ivone Leong reviewed gene: ADAMTS10: Rating: GREEN; Mode of pathogenicity: ; Publications: 18567016, 19836009, 15368195; Phenotypes: Weill-Marchesani syndrome 1, recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.38 ACTG1 Ivone Leong reviewed gene: ACTG1: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 22366783; Phenotypes: Baraitser-Winter syndrome 2, 614583; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.38 ACTB Ivone Leong reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 2505231; Phenotypes: Baraitser-Winter syndrome 1, 243310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.37 WDR36 Ivone Leong Phenotypes for gene: WDR36 were changed from Glaucoma 1, open angle, G 609887; Glaucoma 1, open angle, G, 609887 to Glaucoma 1, open angle, G 609887
Structural eye disease v0.36 SIX3 Ivone Leong Phenotypes for gene: SIX3 were changed from Holoprosencephaly 2 157170; Holoprosencephaly 2, 157170 to Holoprosencephaly 2 157170
Structural eye disease v0.35 SALL2 Ivone Leong Phenotypes for gene: SALL2 were changed from Coloboma, ocular, autosomal recessive, 216820; Coloboma, ocular, autosomal recessive 216820 to Coloboma, ocular, autosomal recessive, 216820
Structural eye disease v0.34 OPTN Ivone Leong Phenotypes for gene: OPTN were changed from Glaucoma 1, open angle, E, 137760; Glaucoma 1, open angle, E 137760; {Glaucoma, normal tension, susceptibility to} 606657 to Glaucoma 1, open angle, E, 137760; {Glaucoma, normal tension, susceptibility to} 606657
Structural eye disease v0.33 NTF4 Ivone Leong Phenotypes for gene: NTF4 were changed from Glaucoma 1, open angle, 1O, 613100; GLAUCOMA 1, OPEN ANGLE, O, 613100 to Glaucoma 1, open angle, 1O, 613100
Structural eye disease v0.32 NAA10 Ivone Leong Phenotypes for gene: NAA10 were changed from Microphthalmia, syndromic 1, 309800; Microphthalmia, syndromic 1, 309800 to Microphthalmia, syndromic 1, 309800
Structural eye disease v0.31 MIR204 Ivone Leong Phenotypes for gene: MIR204 were changed from Retinal dystrophy and iris coloboma with or without cataract 616722; RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT, 616722 to Retinal dystrophy and iris coloboma with or without cataract 616722
Structural eye disease v0.30 HMGB3 Ivone Leong Phenotypes for gene: HMGB3 were changed from ?Microphthalmia, syndromic 13, 300915; Microphthalmia, syndromic 13, 300915 to ?Microphthalmia, syndromic 13, 300915
Structural eye disease v0.29 HDAC6 Ivone Leong Phenotypes for gene: HDAC6 were changed from Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, andmicrophthalmia, 300863; CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, 300863 to Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, andmicrophthalmia, 300863
Structural eye disease v0.28 ERCC6 Ivone Leong Phenotypes for gene: ERCC6 were changed from Cerebrooculofacioskeletal Syndrome; Cerebrooculofacioskeletal syndrome 1, 214150; Cockayne syndrome, type B, 133540Cerebrooculofacioskeletal syndrome 1, 214150De Sanctis-Cacchione syndrome, 278800{Macular degeneration, age-related, susceptibility to 5}, 613761UV-sensitive syndrome 1, 600630{Lung cancer, susceptibility to}, 211980; Macular degeneration, age-related, susceptibility to 5, 613761 to Cerebrooculofacioskeletal Syndrome; Cerebrooculofacioskeletal syndrome 1, 214150; Cockayne syndrome, type B, 133540; De Sanctis-Cacchione syndrome, 278800; {Macular degeneration, age-related, susceptibility to 5}, 613761; UV-sensitive syndrome 1, 600630; {Lung cancer, susceptibility to}, 211980
Structural eye disease v0.27 ERCC2 Ivone Leong Phenotypes for gene: ERCC2 were changed from TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, 601675; Xeroderma pigmentosum, group D, 278730Trichothiodystrophy, 601675Cerebrooculofacioskeletal syndrome 2, 610756 to TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, 601675; Xeroderma pigmentosum, group D, 278730; Trichothiodystrophy, 601675; Cerebrooculofacioskeletal syndrome 2, 610756
Structural eye disease v0.26 ASB10 Ivone Leong Phenotypes for gene: ASB10 were changed from Glaucoma 1, open angle, F, 603383; GLAUCOMA 1, OPEN ANGLE, F, 603383 to Glaucoma 1, open angle, F, 603383
Structural eye disease v0.25 ARL13B Ivone Leong Phenotypes for gene: ARL13B were changed from Joubert syndrome 8 612291; Joubert syndrome 8 to Joubert syndrome 8 612291
Structural eye disease v0.24 AHI1 Ivone Leong Phenotypes for gene: AHI1 were changed from Joubert syndrome-3; Joubert syndrome 3, 608629 to Joubert syndrome 3, 608629
Structural eye disease v0.23 ABCB6 Ivone Leong Phenotypes for gene: ABCB6 were changed from Microphthalmia, isolated, with coloboma 7, 614497; [Blood group, Langereis system], 111600; Microphthalmia, isolated, with coloboma 7 614497; Dyschromatosis universalis hereditaria 3, 615402 to Microphthalmia, isolated, with coloboma 7, 614497; [Blood group, Langereis system], 111600; Dyschromatosis universalis hereditaria 3, 615402
Structural eye disease v0.22 TMEM98 Ivone Leong Phenotypes for gene: TMEM98 were changed from NNO4 Nanophthalmos 4, 615972; NNO4; Nanophthalmos 4, 615972 to NNO4 Nanophthalmos 4, 615972
Structural eye disease v0.21 TMEM67 Ivone Leong Phenotypes for gene: TMEM67 were changed from COACH syndrome, 216360; Joubert syndrome 6, 610688; Joubert syndrome 6; {Bardet-Biedl syndrome 14, modifer of}, 615991; Meckel syndrome 3, 607361; COACH syndrome, 216360; Nephronophthisis 11, 613550 to COACH syndrome, 216360; Joubert syndrome 6, 610688; {Bardet-Biedl syndrome 14, modifer of}, 615991; Meckel syndrome 3, 607361; COACH syndrome, 216360; Nephronophthisis 11, 613550
Structural eye disease v0.20 TENM3 Ivone Leong Phenotypes for gene: TENM3 were changed from Microphthalmia, isolated, with coloboma 9, 615145; Microphthalmia, isolated, with coloboma 9, 615145 to Microphthalmia, isolated, with coloboma 9, 615145
Structural eye disease v0.19 PAX6 Ivone Leong Phenotypes for gene: PAX6 were changed from Coloboma of optic nerve, 120430; Peters anomaly, 604229; Coloboma, ocular, 120200; Aniridia, 106210; Optic nerve hypoplasia, 165550; Aniridia 106210; Foveal hypoplasia 1, 136520; ?Morning glory disc anomaly, 120430; Keratitis, 148190; Anophthalmia; Cataract with late-onset corneal dystrohpy, 106210; Gillespie syndrome, 206700 to Coloboma of optic nerve, 120430; Peters anomaly, 604229; Coloboma, ocular, 120200; Optic nerve hypoplasia, 165550; Aniridia 106210; Foveal hypoplasia 1, 136520; ?Morning glory disc anomaly, 120430; Keratitis, 148190; Anophthalmia; Cataract with late-onset corneal dystrohpy, 106210; Gillespie syndrome, 206700
Structural eye disease v0.18 CEP290 Ivone Leong Phenotypes for gene: CEP290 were changed from Senior-Loken syndrome 6, 610189; Leber congenital amaurosis 10, 611755; Joubert syndrome 5; Joubert syndrome 5, 610188; Meckel syndrome 4, 611134; ?Bardet-Biedl syndrome 14, 615991 to Senior-Loken syndrome 6, 610189; Leber congenital amaurosis 10, 611755; Joubert syndrome 5, 610188; Meckel syndrome 4, 611134; ?Bardet-Biedl syndrome 14, 615991
Structural eye disease v0.17 ACTG1 Ivone Leong Phenotypes for gene: ACTG1 were changed from Baraitser-Winter syndrome 2, 614583; Baraitser-Winter syndrome 2, 614583 to Baraitser-Winter syndrome 2, 614583
Structural eye disease v0.16 ACTB Ivone Leong Phenotypes for gene: ACTB were changed from Baraitser-Winter syndrome 1, 243310; Baraitser-Winter syndrome 1, 243310 to Baraitser-Winter syndrome 1, 243310
Structural eye disease v0.15 ZNF513 Ivone Leong Source NHS GMS was added to ZNF513.
Mode of inheritance for gene ZNF513 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Retinitis pigmentosa 58, 613617 for gene: ZNF513
Structural eye disease v0.15 ZNF423 Ivone Leong Source NHS GMS was added to ZNF423.
Mode of inheritance for gene ZNF423 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Nephronophthisis 14, 614844; Joubert syndrome 19, 614844 for gene: ZNF423
Structural eye disease v0.15 XPC Ivone Leong Source NHS GMS was added to XPC.
Mode of inheritance for gene XPC was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C, 278720 for gene: XPC
Structural eye disease v0.15 XPA Ivone Leong Source NHS GMS was added to XPA.
Mode of inheritance for gene XPA was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A, 278700 for gene: XPA
Structural eye disease v0.15 WT1 Ivone Leong Source NHS GMS was added to WT1.
Mode of inheritance for gene WT1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes WILMS TUMOR,ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATION SYNDROME, 194072 for gene: WT1
Structural eye disease v0.15 WHRN Ivone Leong Source NHS GMS was added to WHRN.
Mode of inheritance for gene WHRN was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Usher syndrome, type 2D, 611383 for gene: WHRN
Structural eye disease v0.15 WFS1 Ivone Leong Source NHS GMS was added to WFS1.
Mode of inheritance for gene WFS1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Wolfram-like syndrome, autosomal dominant, 614296; Wolfram syndrome, 222300; ?Cataract 41, 116400 for gene: WFS1
Structural eye disease v0.15 WDR36 Ivone Leong Source NHS GMS was added to WDR36.
Mode of inheritance for gene WDR36 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Glaucoma 1, open angle, G, 609887 for gene: WDR36
Structural eye disease v0.15 WDPCP Ivone Leong Source NHS GMS was added to WDPCP.
Mode of inheritance for gene WDPCP was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Bardet-Biedl syndrome 15, 615992 for gene: WDPCP
Structural eye disease v0.15 VCAN Ivone Leong Source NHS GMS was added to VCAN.
Mode of inheritance for gene VCAN was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Wagner syndrome 1, 143200 for gene: VCAN
Structural eye disease v0.15 VAX1 Ivone Leong Source NHS GMS was added to VAX1.
Mode of inheritance for gene VAX1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Microphthalmia, syndromic 11, 614402 for gene: VAX1
Publications for gene VAX1 were changed from to 10601035; 22095910
Structural eye disease v0.15 USH2A Ivone Leong Source NHS GMS was added to USH2A.
Mode of inheritance for gene USH2A was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Usher syndrome type 2A, 276901; Retinitis pigmentosa 39, 613809 for gene: USH2A
Structural eye disease v0.15 USH1G Ivone Leong Source NHS GMS was added to USH1G.
Mode of inheritance for gene USH1G was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Usher syndrome, type 1G, 606943 for gene: USH1G
Structural eye disease v0.15 USH1C Ivone Leong Source NHS GMS was added to USH1C.
Mode of inheritance for gene USH1C was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Deafness, autosomal recessive 18A, 602092; Usher syndrome type 1C, 276904 for gene: USH1C
Structural eye disease v0.15 UNC119 Ivone Leong Source NHS GMS was added to UNC119.
Mode of inheritance for gene UNC119 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Cone-rod dystrophy; Immunodeficiency 13, 615518 for gene: UNC119
Structural eye disease v0.15 TYRP1 Ivone Leong Source NHS GMS was added to TYRP1.
Mode of inheritance for gene TYRP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes [Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)], 612271; Albinism, oculocutaneous, type III, 203290 for gene: TYRP1
Publications for gene TYRP1 were changed from to 10644000
Structural eye disease v0.15 TYR Ivone Leong Source NHS GMS was added to TYR.
Mode of inheritance for gene TYR was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes [Skin/hair/eye pigmentation 3, blue/green eyes]; Albinism, oculocutaneous, type IB, 606952; Waardenburg syndrome/albinism, digenic, 103470; [Skin/hair/eye pigmentation 3, light/dark/freckling skin], 601800; Albinism, oculocutaneous, type IA, 203100; {Melanoma, cutaneous malignant, susceptibility to, 8} for gene: TYR
Publications for gene TYR were changed from to 28778995
Structural eye disease v0.15 TULP1 Ivone Leong Source NHS GMS was added to TULP1.
Mode of inheritance for gene TULP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 600132; Retinitis pigmentosa 14; Leber congenital amaurosis 15; 613843 for gene: TULP1
Structural eye disease v0.15 TTC8 Ivone Leong Source NHS GMS was added to TTC8.
Mode of inheritance for gene TTC8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Retinitis pigmentosa 51, 613464; Bardet-Biedl syndrome 8, 615985 for gene: TTC8
Structural eye disease v0.15 TTC21B Ivone Leong Source NHS GMS was added to TTC21B.
Mode of inheritance for gene TTC21B was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY, 613819 for gene: TTC21B
Structural eye disease v0.15 TSPAN12 Ivone Leong Source NHS GMS was added to TSPAN12.
Mode of inheritance for gene TSPAN12 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Exudative vitreoretinopathy 5, 613310 for gene: TSPAN12
Structural eye disease v0.15 TRPM1 Ivone Leong Source NHS GMS was added to TRPM1.
Mode of inheritance for gene TRPM1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216 for gene: TRPM1
Structural eye disease v0.15 TRIM44 Ivone Leong Source NHS GMS was added to TRIM44.
Added phenotypes ANIRIDIA 3, 617142 for gene: TRIM44
Structural eye disease v0.15 TRIM32 Ivone Leong Source NHS GMS was added to TRIM32.
Mode of inheritance for gene TRIM32 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Bardet-Biedl syndrome 11, 615988; Muscular dystrophy, limb-girdle, type 2H, 254110 for gene: TRIM32
Structural eye disease v0.15 TPP1 Ivone Leong Source NHS GMS was added to TPP1.
Mode of inheritance for gene TPP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes CEROID LIPOFUSCINOSIS, NEURONAL, 2, 204500 for gene: TPP1
Structural eye disease v0.15 TP53BP2 Ivone Leong Source NHS GMS was added to TP53BP2.
Publications for gene TP53BP2 were changed from 28150229 to 27447114; 28150229
Structural eye disease v0.15 TOPORS Ivone Leong Source NHS GMS was added to TOPORS.
Mode of inheritance for gene TOPORS was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Retinitis pigmentosa 31, 609923 for gene: TOPORS
Structural eye disease v0.15 TMEM67 Ivone Leong Source NHS GMS was added to TMEM67.
Source Expert Review Green was added to TMEM67.
Added phenotypes Joubert syndrome 6, 610688; {Bardet-Biedl syndrome 14, modifer of}, 615991; COACH syndrome, 216360; Meckel syndrome 3, 607361; Nephronophthisis 11, 613550 for gene: TMEM67
Publications for gene TMEM67 were changed from 19058225 to 30055837; 19058225
Rating Changed from Red List (low evidence) to Green List (high evidence)
Structural eye disease v0.15 TMEM237 Ivone Leong Source NHS GMS was added to TMEM237.
Source Expert Review Amber was added to TMEM237.
Added phenotypes Joubert syndrome 14, 614424 for gene: TMEM237
Publications for gene TMEM237 were changed from 22152675 to 30055837; 22152675
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.15 TMEM231 Ivone Leong Source NHS GMS was added to TMEM231.
Added phenotypes Joubert syndrome 20, 614970; Meckel syndrome 11, 615397 for gene: TMEM231
Publications for gene TMEM231 were changed from 23012439; 23349226 to 23349226; 23012439
Structural eye disease v0.15 TMEM216 Ivone Leong Source NHS GMS was added to TMEM216.
Source Expert Review Amber was added to TMEM216.
Added phenotypes Joubert syndrome 2, 608091; Meckel syndrome 2, 603194 for gene: TMEM216
Publications for gene TMEM216 were changed from 20036350; 22282472; 20512146 to 30055837; 20512146
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.15 TMEM138 Ivone Leong Source NHS GMS was added to TMEM138.
Added phenotypes Joubert syndrome 16, 614465 for gene: TMEM138
Structural eye disease v0.15 TMEM126A Ivone Leong Source NHS GMS was added to TMEM126A.
Mode of inheritance for gene TMEM126A was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Optic atrophy, 612989 for gene: TMEM126A
Structural eye disease v0.15 TIMP3 Ivone Leong Source NHS GMS was added to TIMP3.
Mode of inheritance for gene TIMP3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Sorsby fundus dystrophy, 136900 for gene: TIMP3
Structural eye disease v0.15 TIMM8A Ivone Leong Source NHS GMS was added to TIMM8A.
Mode of inheritance for gene TIMM8A was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Mohr-Tranebjaerg syndrome, 304700 for gene: TIMM8A
Structural eye disease v0.15 TFAP2A Ivone Leong Source NHS GMS was added to TFAP2A.
Source Expert Review Green was added to TFAP2A.
Added phenotypes Branchiooculofacial syndrome (includes ocular anomalies such as microphthalmia and lacrimal duct obstruction), 113620 for gene: TFAP2A
Publications for gene TFAP2A were changed from 10767004, 18423521 to 19685247; 18423521
Rating Changed from Red List (low evidence) to Green List (high evidence)
Structural eye disease v0.15 TENM3 Ivone Leong Source NHS GMS was added to TENM3.
Source Expert Review Green was added to TENM3.
Added phenotypes Microphthalmia, isolated, with coloboma 9, 615145 for gene: TENM3
Publications for gene TENM3 were changed from 22766609, 27103084, 24859618 to 30513139; 24859618; 29753094; 27103084; 22766609
Rating Changed from Red List (low evidence) to Green List (high evidence)
Structural eye disease v0.15 TCTN3 Ivone Leong Source NHS GMS was added to TCTN3.
Added phenotypes Joubert syndrome 18, 614815; Orofaciodigital syndrome IV, 258860 for gene: TCTN3
Publications for gene TCTN3 were changed from 25118024 to 29725084; 25118024
Structural eye disease v0.15 TCTN2 Ivone Leong Source NHS GMS was added to TCTN2.
Added phenotypes Joubert syndrome 24, 616654; Meckel syndrome 8, 613885 for gene: TCTN2
Structural eye disease v0.15 TCTN1 Ivone Leong Source NHS GMS was added to TCTN1.
Added phenotypes Joubert syndrome 13, 614173 for gene: TCTN1
Publications for gene TCTN1 were changed from 21725307; 22693042 to 22693042; 21725307
Structural eye disease v0.15 SPINT2 Ivone Leong Source NHS GMS was added to SPINT2.
Added phenotypes DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES, 270420 for gene: SPINT2
Publications for gene SPINT2 were changed from 29575628; 24142340 to 29575628; 24142340,
Structural eye disease v0.15 SPATA7 Ivone Leong Source NHS GMS was added to SPATA7.
Mode of inheritance for gene SPATA7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Retinitis pigmentosa, juvenile, autosomal recessive, 604232; Leber congenital amaurosis 3, 604232 for gene: SPATA7
Structural eye disease v0.15 SNRNP200 Ivone Leong Source NHS GMS was added to SNRNP200.
Mode of inheritance for gene SNRNP200 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Retinitis pigmentosa 33, 610359 for gene: SNRNP200
Structural eye disease v0.15 SLC45A2 Ivone Leong Source NHS GMS was added to SLC45A2.
Mode of inheritance for gene SLC45A2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes [Skin/hair/eye pigmentation 5, dark/light eyes], 227240; [Skin/hair/eye pigmentation 5, dark/fair skin]; [Skin/hair/eye pigmentation 5, black/nonblack hair]; Albinism, oculocutaneous, type IV, 606574 for gene: SLC45A2
Structural eye disease v0.15 SLC24A5 Ivone Leong Source NHS GMS was added to SLC24A5.
Mode of inheritance for gene SLC24A5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ALBINISM, OCULOCUTANEOUS, TYPE VI, 113750 for gene: SLC24A5
Structural eye disease v0.15 SLC24A1 Ivone Leong Source NHS GMS was added to SLC24A1.
Mode of inheritance for gene SLC24A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830 for gene: SLC24A1
Structural eye disease v0.15 SIX3 Ivone Leong Source NHS GMS was added to SIX3.
Mode of inheritance for gene SIX3 was changed from MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Holoprosencephaly 2, 157170 for gene: SIX3
Publications for gene SIX3 were changed from 21976454 to 21976454; 21940735; 10369266
Structural eye disease v0.15 SEMA4A Ivone Leong Source NHS GMS was added to SEMA4A.
Mode of inheritance for gene SEMA4A was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Cone-rod dystrophy 10, 610283; Retinitis pigmentosa 35, 610282 for gene: SEMA4A
Structural eye disease v0.15 SDCCAG8 Ivone Leong Source NHS GMS was added to SDCCAG8.
Mode of inheritance for gene SDCCAG8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Bardet-Biedl syndrome 16, 615993; Senior-Loken syndrome 7, 613615 for gene: SDCCAG8
Structural eye disease v0.15 SALL2 Ivone Leong Source NHS GMS was added to SALL2.
Added phenotypes Coloboma, ocular, autosomal recessive, 216820 for gene: SALL2
Structural eye disease v0.15 SAG Ivone Leong Source NHS GMS was added to SAG.
Mode of inheritance for gene SAG was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Retinitis pigmentosa 47; Oguchi disease-1; 258100; 613758 for gene: SAG
Structural eye disease v0.15 RS1 Ivone Leong Source NHS GMS was added to RS1.
Mode of inheritance for gene RS1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Retinoschisis, 312700 for gene: RS1
Structural eye disease v0.15 RPGRIP1 Ivone Leong Source NHS GMS was added to RPGRIP1.
Mode of inheritance for gene RPGRIP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Cone-rod dystrophy 13, 608194; Leber congenital amaurosis 6, 613826 for gene: RPGRIP1
Structural eye disease v0.15 RPGR Ivone Leong Source NHS GMS was added to RPGR.
Mode of inheritance for gene RPGR was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Macular degeneration, X-linked atrophic, 300834; Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455; Cone-rod dystrophy, X-linked, 1, 304020; Retinitis pigmentosa 3, 300029 for gene: RPGR
Structural eye disease v0.15 RPE65 Ivone Leong Source NHS GMS was added to RPE65.
Mode of inheritance for gene RPE65 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Leber congenital amaurosis 2, 204100 for gene: RPE65
Structural eye disease v0.15 RP9 Ivone Leong Source NHS GMS was added to RP9.
Mode of inheritance for gene RP9 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes ?Retinitis pigmentosa 9, 180104 for gene: RP9
Structural eye disease v0.15 RP2 Ivone Leong Source NHS GMS was added to RP2.
Mode of inheritance for gene RP2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Retinitis pigmentosa 2, 312600 for gene: RP2
Publications for gene RP2 were changed from to 21738648
Structural eye disease v0.15 RP1 Ivone Leong Source NHS GMS was added to RP1.
Mode of inheritance for gene RP1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Retinitis pigmentosa 1, 180100 for gene: RP1
Structural eye disease v0.15 ROM1 Ivone Leong Source NHS GMS was added to ROM1.
Mode of inheritance for gene ROM1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Retinitis pigmentosa 7, digenic, 608133 for gene: ROM1
Structural eye disease v0.15 RLBP1 Ivone Leong Source NHS GMS was added to RLBP1.
Mode of inheritance for gene RLBP1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes 136880; Newfoundland rod-cone dystrophy, Fundus albipunctatus; Bothnia retinal dystrophy; 607475; 607476 for gene: RLBP1
Structural eye disease v0.15 RIMS1 Ivone Leong Source NHS GMS was added to RIMS1.
Mode of inheritance for gene RIMS1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Cone-rod dystrophy 7, 603649 for gene: RIMS1
Publications for gene RIMS1 were changed from to 28677725
Structural eye disease v0.15 RHO Ivone Leong Source NHS GMS was added to RHO.
Mode of inheritance for gene RHO was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Retinitis pigmentosa 4, autosomal dominant or recessive, 613731; Fundus albipunctatus, 136880; Night blindness, congenital stationary, autosomal dominant 1, 610445 for gene: RHO
Structural eye disease v0.15 RGS9BP Ivone Leong Source NHS GMS was added to RGS9BP.
Mode of inheritance for gene RGS9BP was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Bradyopsia, 608415 for gene: RGS9BP
Structural eye disease v0.15 RGS9 Ivone Leong Source NHS GMS was added to RGS9.
Mode of inheritance for gene RGS9 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Bradyopsia, 608415 for gene: RGS9
Structural eye disease v0.15 RGR Ivone Leong Source NHS GMS was added to RGR.
Mode of inheritance for gene RGR was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Retinitis pigmentosa 44, 613769 for gene: RGR
Structural eye disease v0.15 RDH5 Ivone Leong Source NHS GMS was added to RDH5.
Mode of inheritance for gene RDH5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Fundus albipunctatus, 136880 for gene: RDH5
Structural eye disease v0.15 RDH12 Ivone Leong Source NHS GMS was added to RDH12.
Mode of inheritance for gene RDH12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Leber congenital amaurosis 13, 612712 for gene: RDH12
Publications for gene RDH12 were changed from to 25148430; 22065924
Structural eye disease v0.15 RD3 Ivone Leong Source NHS GMS was added to RD3.
Mode of inheritance for gene RD3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Leber congenital amaurosis 12, 610612 for gene: RD3
Structural eye disease v0.15 RBP3 Ivone Leong Source NHS GMS was added to RBP3.
Mode of inheritance for gene RBP3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Retinitis pigmentosa 66, 615233 for gene: RBP3
Structural eye disease v0.15 RAX2 Ivone Leong Source NHS GMS was added to RAX2.
Mode of inheritance for gene RAX2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Macular degeneration, age-related, 6, 613757; Cone-rod dystrophy 11, 610381 for gene: RAX2
Structural eye disease v0.15 PRPH2 Ivone Leong Source NHS GMS was added to PRPH2.
Mode of inheritance for gene PRPH2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Retinitis punctata albescens, 136880; Leber congenital amaurosis 18, 608133; Choriodal dystrophy, central areolar 2, 613105; Macular dystrophy, vitelliform, 3, 608161; Macular dystrophy, patterned, 1, 169150 for gene: PRPH2
Structural eye disease v0.15 PRPF8 Ivone Leong Source NHS GMS was added to PRPF8.
Mode of inheritance for gene PRPF8 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Retinitis pigmentosa 13, 600059 for gene: PRPF8
Structural eye disease v0.15 PRPF6 Ivone Leong Source NHS GMS was added to PRPF6.
Mode of inheritance for gene PRPF6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Retinitis pigmentosa 60, 613983 for gene: PRPF6
Structural eye disease v0.15 PRPF31 Ivone Leong Source NHS GMS was added to PRPF31.
Mode of inheritance for gene PRPF31 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Retinitis pigmentosa 11, 600138 for gene: PRPF31
Structural eye disease v0.15 PRPF3 Ivone Leong Source NHS GMS was added to PRPF3.
Mode of inheritance for gene PRPF3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Retinitis pigmentosa 18, 601414 for gene: PRPF3
Structural eye disease v0.15 PROM1 Ivone Leong Source NHS GMS was added to PROM1.
Mode of inheritance for gene PROM1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Stargardt disease 4, 603786; Macular dystrophy, retinal, 2, 608051; Cone-rod dystrophy 12, 612657; Retinitis pigmentosa 41, 612095 for gene: PROM1
Structural eye disease v0.15 PRCD Ivone Leong Source NHS GMS was added to PRCD.
Mode of inheritance for gene PRCD was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Retinitis pigmentosa 36, 610599 for gene: PRCD
Structural eye disease v0.15 PPT1 Ivone Leong Source NHS GMS was added to PPT1.
Mode of inheritance for gene PPT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes CEROID LIPOFUSCINOSIS, NEURONAL, 1, 256730 for gene: PPT1
Structural eye disease v0.15 POLH Ivone Leong Source NHS GMS was added to POLH.
Mode of inheritance for gene POLH was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes XERODERMA PIGMENTOSUM, VARIANT TYPE, 278750 for gene: POLH
Structural eye disease v0.15 PLA2G5 Ivone Leong Source NHS GMS was added to PLA2G5.
Mode of inheritance for gene PLA2G5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes [Fleck retina, familial benign], 228980 for gene: PLA2G5
Structural eye disease v0.15 PITX3 Ivone Leong Source NHS GMS was added to PITX3.
Source Expert Review Green was added to PITX3.
Mode of inheritance for gene PITX3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Anterior segment mesenchymal dysgenesis, 107250; Cataract 11, multiple types, 610623 for gene: PITX3
Publications for gene PITX3 were changed from to 29405783; 9620774; 20033184
Rating Changed from Red List (low evidence) to Green List (high evidence)
Structural eye disease v0.15 PITPNM3 Ivone Leong Source NHS GMS was added to PITPNM3.
Mode of inheritance for gene PITPNM3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Cone-rod dystrophy 5, 600977 for gene: PITPNM3
Structural eye disease v0.15 PHYH Ivone Leong Source NHS GMS was added to PHYH.
Mode of inheritance for gene PHYH was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Refsum disease, 266500 for gene: PHYH
Structural eye disease v0.15 PEX7 Ivone Leong Source NHS GMS was added to PEX7.
Mode of inheritance for gene PEX7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Peroxisome biogenesis disorder 9B, 614879; Rhizomelic chondrodysplasia punctata, type 1, 215100 for gene: PEX7
Structural eye disease v0.15 PDZD7 Ivone Leong Source NHS GMS was added to PDZD7.
Mode of inheritance for gene PDZD7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Usher syndrome, type IIC, GPR98/PDZD7 digenic, 605472; Retinal disease in Usher syndrome type IIA, modifier of, 276901 for gene: PDZD7
Structural eye disease v0.15 PDE6H Ivone Leong Source NHS GMS was added to PDE6H.
Mode of inheritance for gene PDE6H was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Achromatopsia 6, 610024 for gene: PDE6H
Structural eye disease v0.15 PDE6G Ivone Leong Source NHS GMS was added to PDE6G.
Mode of inheritance for gene PDE6G was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Retinitis pigmentosa 57, 613582 for gene: PDE6G
Structural eye disease v0.15 PDE6C Ivone Leong Source NHS GMS was added to PDE6C.
Mode of inheritance for gene PDE6C was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Cone dystrophy 4, 613093 for gene: PDE6C
Structural eye disease v0.15 PDE6B Ivone Leong Source NHS GMS was added to PDE6B.
Mode of inheritance for gene PDE6B was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Retinitis pigmentosa-40; 163500; Night blindness, congenital stationary, autosomal dominant 2; 613801 for gene: PDE6B
Structural eye disease v0.15 PDE6A Ivone Leong Source NHS GMS was added to PDE6A.
Mode of inheritance for gene PDE6A was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Retinitis pigmentosa 43, 613810 for gene: PDE6A
Structural eye disease v0.15 PCDH15 Ivone Leong Source NHS GMS was added to PCDH15.
Mode of inheritance for gene PCDH15 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Usher syndrome, type 1F, 602083; Usher syndrome, type 1D/F digenic, 601067; Deafness, autosomal recessive 23, 609533 for gene: PCDH15
Structural eye disease v0.15 OPTN Ivone Leong Source NHS GMS was added to OPTN.
Mode of inheritance for gene OPTN was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Glaucoma 1, open angle, E, 137760 for gene: OPTN
Structural eye disease v0.15 OPA3 Ivone Leong Source NHS GMS was added to OPA3.
Mode of inheritance for gene OPA3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Optic atrophy 3 with cataract, 165300 for gene: OPA3
Structural eye disease v0.15 OPA1 Ivone Leong Source NHS GMS was added to OPA1.
Mode of inheritance for gene OPA1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Optic atrophy 1, 165500; Glaucoma, normal tension, susceptibility to, 210000; Optic atrophy plus syndrome, 125250; Behr syndrome for gene: OPA1
Structural eye disease v0.15 OFD1 Ivone Leong Source NHS GMS was added to OFD1.
Mode of inheritance for gene OFD1 was changed from Other - please specifiy in evaluation comments to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes ?Retinitis pigmentosa 23, 300424; Joubert syndrome 10, 300804 for gene: OFD1
Publications for gene OFD1 were changed from 22353940; 19800048 to 28173652
Structural eye disease v0.15 OCA2 Ivone Leong Source NHS GMS was added to OCA2.
Mode of inheritance for gene OCA2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Albinism, brown oculocutaneous, 203200; [Skin/hair/eye pigmentation 1, blue/nonblue eyes]; Albinism oculocutaneous, type II; [Skin/hair/eye pigmentation 1, blond/brown hair], 227220 for gene: OCA2
Structural eye disease v0.15 OAT Ivone Leong Source NHS GMS was added to OAT.
Mode of inheritance for gene OAT was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Gyrate atrophy of choroid and retina with or without ornithinemia, 258870 for gene: OAT
Structural eye disease v0.15 NYX Ivone Leong Source NHS GMS was added to NYX.
Mode of inheritance for gene NYX was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Night blindness, congenital stationary (complete), 1A, X-linked, 310500 for gene: NYX
Structural eye disease v0.15 NTF4 Ivone Leong Source NHS GMS was added to NTF4.
Mode of inheritance for gene NTF4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes GLAUCOMA 1, OPEN ANGLE, O, 613100 for gene: NTF4
Structural eye disease v0.15 NRL Ivone Leong Source NHS GMS was added to NRL.
Mode of inheritance for gene NRL was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Retinitis pigmentosa 27, 613750 for gene: NRL
Structural eye disease v0.15 NR2E3 Ivone Leong Source NHS GMS was added to NR2E3.
Mode of inheritance for gene NR2E3 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Enhanced S-cone syndrome, 268100; Retinitis pigmentosa 37, 611131 for gene: NR2E3
Structural eye disease v0.15 NPHP4 Ivone Leong Source NHS GMS was added to NPHP4.
Mode of inheritance for gene NPHP4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Senior-Loken syndrome, 606996; Nephronophthisis 4, 606966 for gene: NPHP4
Structural eye disease v0.15 NPHP3 Ivone Leong Source NHS GMS was added to NPHP3.
Mode of inheritance for gene NPHP3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 604387; Meckel syndrome 7; Nephronophthisis 3; Renal-hepatic-pancreatic dysplasia 1; 267010; 208540 for gene: NPHP3
Structural eye disease v0.15 NPHP1 Ivone Leong Source NHS GMS was added to NPHP1.
Added phenotypes 609583; 256100; 266900; Joubert syndrome 4; Senior-Loken syndrome-1; Nephronophthisis 1, juvenile for gene: NPHP1
Structural eye disease v0.15 NDP Ivone Leong Source NHS GMS was added to NDP.
Source Expert Review Green was added to NDP.
Mode of inheritance for gene NDP was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Norrie disease, 310600; Exudative vitreoretinopathy 2, X-linked, 305390 for gene: NDP
Publications for gene NDP were changed from to 17334993; 26130484; 29321361; 29617172
Rating Changed from Red List (low evidence) to Green List (high evidence)
Structural eye disease v0.15 NAA10 Ivone Leong Source NHS GMS was added to NAA10.
Mode of inheritance for gene NAA10 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mode of pathogenicity for gene NAA10 was changed from to other - please provide details in the comments
Added phenotypes Microphthalmia, syndromic 1, 309800 for gene: NAA10
Publications for gene NAA10 were changed from 24431331, 20301694 to 30842225; 24431331
Structural eye disease v0.15 MYO7A Ivone Leong Source NHS GMS was added to MYO7A.
Mode of inheritance for gene MYO7A was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Deafness, autosomal recessive 2; Usher syndrome, type 1B, 276900; Deafness, autosomal dominant 11, 601317 for gene: MYO7A
Structural eye disease v0.15 MTTP Ivone Leong Source NHS GMS was added to MTTP.
Mode of inheritance for gene MTTP was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Abetalipoproteinemia, 200100 for gene: MTTP
Structural eye disease v0.15 MPLKIP Ivone Leong Source NHS GMS was added to MPLKIP.
Mode of inheritance for gene MPLKIP was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE, 234050 for gene: MPLKIP
Publications for gene MPLKIP were changed from to 21959366
Structural eye disease v0.15 MKS1 Ivone Leong Source NHS GMS was added to MKS1.
Mode of inheritance for gene MKS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Bardet-Biedl syndrome 13, 615990; Meckel syndrome 1, 249000 for gene: MKS1
Publications for gene MKS1 were changed from to 23454480
Structural eye disease v0.15 MKKS Ivone Leong Source NHS GMS was added to MKKS.
Mode of inheritance for gene MKKS was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Bardet-Biedl syndrome 6; 605231; McKusick-Kaufman syndrome; 236700 for gene: MKKS
Structural eye disease v0.15 MIR204 Ivone Leong Source NHS GMS was added to MIR204.
Added phenotypes RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT, 616722 for gene: MIR204
Structural eye disease v0.15 MFSD8 Ivone Leong Source NHS GMS was added to MFSD8.
Mode of inheritance for gene MFSD8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT, 616170; CEROID LIPOFUSCINOSIS, NEURONAL, 7, 610951 for gene: MFSD8
Structural eye disease v0.15 MFN2 Ivone Leong Source NHS GMS was added to MFN2.
Mode of inheritance for gene MFN2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Charcot-Marie-Tooth disease, type 2A2, 609260 for gene: MFN2
Structural eye disease v0.15 MERTK Ivone Leong Source NHS GMS was added to MERTK.
Mode of inheritance for gene MERTK was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Retinitis pigmentosa 38, 613862 for gene: MERTK
Structural eye disease v0.15 MAK Ivone Leong Source NHS GMS was added to MAK.
Mode of inheritance for gene MAK was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Retinitis pigmentosa 62, 614181 for gene: MAK
Structural eye disease v0.15 LZTFL1 Ivone Leong Source NHS GMS was added to LZTFL1.
Mode of inheritance for gene LZTFL1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Bardet-Biedl syndrome 17, 615994 for gene: LZTFL1
Structural eye disease v0.15 LRP5 Ivone Leong Source NHS GMS was added to LRP5.
Source Expert Review Green was added to LRP5.
Mode of inheritance for gene LRP5 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Osteopetrosis, autosomal dominant 1, 607634; Osteoporosis-pseudoglioma syndrome, 259770; van Buchem disease, type 2; Exudative vitreoretinopathy 4, 601813 for gene: LRP5
Publications for gene LRP5 were changed from to 29131652, 28111184, 20034086
Rating Changed from Red List (low evidence) to Green List (high evidence)
Structural eye disease v0.15 LRMDA Ivone Leong Source NHS GMS was added to LRMDA.
Mode of inheritance for gene LRMDA was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ALBINISM, OCULOCUTANEOUS, TYPE VII, 615179 for gene: LRMDA
Structural eye disease v0.15 LRIT3 Ivone Leong Source NHS GMS was added to LRIT3.
Mode of inheritance for gene LRIT3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Night blindness, congenital stationary (complete), 1F, autosomal recessive, 615058 for gene: LRIT3
Structural eye disease v0.15 LRAT Ivone Leong Source NHS GMS was added to LRAT.
Mode of inheritance for gene LRAT was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Leber congenital amaurosis 14, 613341 for gene: LRAT
Structural eye disease v0.15 LCA5 Ivone Leong Source NHS GMS was added to LCA5.
Mode of inheritance for gene LCA5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Leber congenital amaurosis 5, 604537 for gene: LCA5
Structural eye disease v0.15 KLHL7 Ivone Leong Source NHS GMS was added to KLHL7.
Mode of inheritance for gene KLHL7 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Retinitis pigmentosa 42, 612943 for gene: KLHL7
Structural eye disease v0.15 KIF7 Ivone Leong Source NHS GMS was added to KIF7.
Added phenotypes Acrocallosal syndrom (JOUBERT SYNDROME 12), 200990 for gene: KIF7
Structural eye disease v0.15 KCTD7 Ivone Leong Source NHS GMS was added to KCTD7.
Mode of inheritance for gene KCTD7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS, 611726 for gene: KCTD7
Structural eye disease v0.15 KCNV2 Ivone Leong Source NHS GMS was added to KCNV2.
Mode of inheritance for gene KCNV2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Retinal cone dystrophy 3B, 610356 for gene: KCNV2
Structural eye disease v0.15 KCNJ13 Ivone Leong Source NHS GMS was added to KCNJ13.
Mode of inheritance for gene KCNJ13 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Leber congenital amaurosis 16, 614186; Snowflake vitreoretinal degeneration, 193230 for gene: KCNJ13
Structural eye disease v0.15 IQCB1 Ivone Leong Source NHS GMS was added to IQCB1.
Mode of inheritance for gene IQCB1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Senior-Loken syndrome 5: an autosomal recessive disorder with the main features of nephronophthisis (NPHP, see 256100) and Leber congenital amaurosis (LCA, see 204000) 609254 for gene: IQCB1
Structural eye disease v0.15 INVS Ivone Leong Source NHS GMS was added to INVS.
Mode of inheritance for gene INVS was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Nephronophthisis 2, infantile, 602088 for gene: INVS
Structural eye disease v0.15 INPP5E Ivone Leong Source NHS GMS was added to INPP5E.
Source Expert Review Green was added to INPP5E.
Added phenotypes Joubert syndrome 1, 213300; Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156 for gene: INPP5E
Publications for gene INPP5E were changed from 23386033; 26748598 to 30055837; 23386033; 23022135
Rating Changed from Red List (low evidence) to Green List (high evidence)
Structural eye disease v0.15 IMPG2 Ivone Leong Source NHS GMS was added to IMPG2.
Mode of inheritance for gene IMPG2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Retinitis pigmentosa 56, 613581; Macular dystrophy, vitelliform, 5, 616152 for gene: IMPG2
Structural eye disease v0.15 IMPDH1 Ivone Leong Source NHS GMS was added to IMPDH1.
Mode of inheritance for gene IMPDH1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Leber congenital amaurosis 11, 613837; Retinitis pigmentosa 10, 180105 for gene: IMPDH1
Structural eye disease v0.15 IDH3B Ivone Leong Source NHS GMS was added to IDH3B.
Mode of inheritance for gene IDH3B was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Retinitis pigmentosa 46, 612572 for gene: IDH3B
Structural eye disease v0.15 HMGB3 Ivone Leong Source NHS GMS was added to HMGB3.
Mode of inheritance for gene HMGB3 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes ?Microphthalmia, syndromic 13, 300915 for gene: HMGB3
Publications for gene HMGB3 were changed from 4998085 to 24993872
Structural eye disease v0.15 HDAC6 Ivone Leong Source NHS GMS was added to HDAC6.
Mode of inheritance for gene HDAC6 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mode of pathogenicity for gene HDAC6 was changed from to other - please provide details in the comments
Added phenotypes CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, 300863 for gene: HDAC6
Publications for gene HDAC6 were changed from to 20181727
Structural eye disease v0.15 HARS Ivone Leong Source NHS GMS was added to HARS.
Mode of inheritance for gene HARS was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Usher syndrome type 3B, 614504; Charcot-Marie-Tooth disease, axonal, type 2W, 616625 for gene: HARS
Structural eye disease v0.15 GUCY2D Ivone Leong Source NHS GMS was added to GUCY2D.
Mode of inheritance for gene GUCY2D was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Cone-rod dystrophy 6, 601777; Leber congenital amaurosis 1, 204000 for gene: GUCY2D
Structural eye disease v0.15 GUCA1B Ivone Leong Source NHS GMS was added to GUCA1B.
Mode of inheritance for gene GUCA1B was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Retinitis pigmentosa 48, 613827 for gene: GUCA1B
Structural eye disease v0.15 GUCA1A Ivone Leong Source NHS GMS was added to GUCA1A.
Mode of inheritance for gene GUCA1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Cone dystrophy-3, 602093 for gene: GUCA1A
Structural eye disease v0.15 GTF2H5 Ivone Leong Source NHS GMS was added to GTF2H5.
Mode of inheritance for gene GTF2H5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE, 616395 for gene: GTF2H5
Structural eye disease v0.15 GRN Ivone Leong Source NHS GMS was added to GRN.
Mode of inheritance for gene GRN was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes CEROID LIPOFUSCINOSIS, NEURONAL, 11, 614706 for gene: GRN
Structural eye disease v0.15 GRM6 Ivone Leong Source NHS GMS was added to GRM6.
Mode of inheritance for gene GRM6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270 for gene: GRM6
Structural eye disease v0.15 GPR179 Ivone Leong Source NHS GMS was added to GPR179.
Mode of inheritance for gene GPR179 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565 for gene: GPR179
Structural eye disease v0.15 GPR143 Ivone Leong Source NHS GMS was added to GPR143.
Mode of inheritance for gene GPR143 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Nystagmus 6, congenital, X-linked, 300814; Ocular albinism, type I, Nettleship-Falls type, 300500 for gene: GPR143
Structural eye disease v0.15 GNAT2 Ivone Leong Source NHS GMS was added to GNAT2.
Mode of inheritance for gene GNAT2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Achromatopsia-4,613856 for gene: GNAT2
Structural eye disease v0.15 GNAT1 Ivone Leong Source NHS GMS was added to GNAT1.
Mode of inheritance for gene GNAT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Night blindness, congenital stationary, type 1G, 616389; Night blindness, congenital stationary, autosomal dominant 3, 610444 for gene: GNAT1
Structural eye disease v0.15 GDF6 Ivone Leong Source NHS GMS was added to GDF6.
Source Expert Review Green was added to GDF6.
Mode of inheritance for gene GDF6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of pathogenicity for gene GDF6 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Added phenotypes Microphthalmia, isolated 4, 613094; KLIPPEL-FEIL SYNDROME 1(includes microphthalmia), 118100; Microphthalmia with coloboma 6, digenic (with GDF3), 613703 for gene: GDF6
Publications for gene GDF6 were changed from to 17236135, 20494911, 25457163, 24033328, 21070663
Rating Changed from Red List (low evidence) to Green List (high evidence)
Structural eye disease v0.15 GDF3 Ivone Leong Source NHS GMS was added to GDF3.
Mode of inheritance for gene GDF3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of pathogenicity for gene GDF3 was changed from to other - please provide details in the comments
Added phenotypes Klippel-Feil Syndrome3, 613702; Microphthalmia with coloboma 6, 613703; Microphthalmia, isolated 7, 613704 for gene: GDF3
Publications for gene GDF3 were changed from to 19864492
Structural eye disease v0.15 FZD4 Ivone Leong Source NHS GMS was added to FZD4.
Mode of inheritance for gene FZD4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Exudative vitreoretinopathy 1, 133780 for gene: FZD4
Publications for gene FZD4 were changed from to 30882657; 28413837
Structural eye disease v0.15 FSCN2 Ivone Leong Source NHS GMS was added to FSCN2.
Mode of inheritance for gene FSCN2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Retinitis pigmentosa 30, 607921 for gene: FSCN2
Structural eye disease v0.15 FLVCR1 Ivone Leong Source NHS GMS was added to FLVCR1.
Mode of inheritance for gene FLVCR1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ataxia, posterior column, with retinitis pigmentosa, 609033 for gene: FLVCR1
Structural eye disease v0.15 FAM161A Ivone Leong Source NHS GMS was added to FAM161A.
Mode of inheritance for gene FAM161A was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Retinitis pigmentosa 28, 606068 for gene: FAM161A
Structural eye disease v0.15 EYS Ivone Leong Source NHS GMS was added to EYS.
Mode of inheritance for gene EYS was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Retinitis pigmentosa 25, 602772 for gene: EYS
Structural eye disease v0.15 ERCC8 Ivone Leong Source NHS GMS was added to ERCC8.
Mode of inheritance for gene ERCC8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Cockayne syndrome, type A, 216400 for gene: ERCC8
Structural eye disease v0.15 ERCC6 Ivone Leong Source NHS GMS was added to ERCC6.
Added phenotypes Cerebrooculofacioskeletal syndrome 1, 214150; Macular degeneration, age-related, susceptibility to 5, 613761 for gene: ERCC6
Structural eye disease v0.15 ERCC5 Ivone Leong Source NHS GMS was added to ERCC5.
Mode of inheritance for gene ERCC5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Xeroderma Pigmentosum, group G (includes microphthalmia and/or cataract), 278780; Cerebrooculofacioskeletal syndrome 3, 616570 for gene: ERCC5
Structural eye disease v0.15 ERCC4 Ivone Leong Source NHS GMS was added to ERCC4.
Mode of inheritance for gene ERCC4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F, 278760 for gene: ERCC4
Structural eye disease v0.15 ERCC3 Ivone Leong Source NHS GMS was added to ERCC3.
Mode of inheritance for gene ERCC3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, 616390 for gene: ERCC3
Structural eye disease v0.15 ERCC2 Ivone Leong Source NHS GMS was added to ERCC2.
Mode of inheritance for gene ERCC2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, 601675 for gene: ERCC2
Structural eye disease v0.15 ERCC1 Ivone Leong Source NHS GMS was added to ERCC1.
Mode of inheritance for gene ERCC1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Cerebrooculofacioskeletal syndrome 4 (includes microphthalmia), 610758 for gene: ERCC1
Publications for gene ERCC1 were changed from to 17273966
Structural eye disease v0.15 ELP4 Ivone Leong Source NHS GMS was added to ELP4.
Added phenotypes ANIRIDIA 2, 617141 for gene: ELP4
Publications for gene ELP4 were changed from 24290376 to 24290376; 29217025
Structural eye disease v0.15 ELOVL4 Ivone Leong Source NHS GMS was added to ELOVL4.
Mode of inheritance for gene ELOVL4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Stargardt disease 3, 600110 for gene: ELOVL4
Structural eye disease v0.15 EFEMP1 Ivone Leong Source NHS GMS was added to EFEMP1.
Mode of inheritance for gene EFEMP1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Doyne honeycomb degeneration of retina, 126600 for gene: EFEMP1
Structural eye disease v0.15 DHDDS Ivone Leong Source NHS GMS was added to DHDDS.
Mode of inheritance for gene DHDDS was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Retinitis pigmentosa 59, 613861 for gene: DHDDS
Structural eye disease v0.15 DDB2 Ivone Leong Source NHS GMS was added to DDB2.
Mode of inheritance for gene DDB2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E, 278740 for gene: DDB2
Structural eye disease v0.15 DDB1 Ivone Leong Source NHS GMS was added to DDB1.
Publications for gene DDB1 were changed from to 17129780
Structural eye disease v0.15 CYP4V2 Ivone Leong Source NHS GMS was added to CYP4V2.
Mode of inheritance for gene CYP4V2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Bietti crystalline corneoretinal dystrophy, 210370 for gene: CYP4V2
Structural eye disease v0.15 CYP27A1 Ivone Leong Source NHS GMS was added to CYP27A1.
Mode of inheritance for gene CYP27A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes CEREBROTENDINOUS XANTHOMATOSIS, 213700 for gene: CYP27A1
Structural eye disease v0.15 CTSD Ivone Leong Source NHS GMS was added to CTSD.
Mode of inheritance for gene CTSD was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes CEROID LIPOFUSCINOSIS, NEURONAL, 10, 610127 for gene: CTSD
Structural eye disease v0.15 CRX Ivone Leong Source NHS GMS was added to CRX.
Mode of inheritance for gene CRX was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Leber congenital amaurosis 7, 613829; Cone-rod retinal dystrophy-2, 120970 for gene: CRX
Structural eye disease v0.15 CRB1 Ivone Leong Source NHS GMS was added to CRB1.
Mode of inheritance for gene CRB1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Retinitis pigmentosa-12, autosomal recessive, 600105; Pigmented paravenous chorioretinal atrophy; Leber congenital amaurosis 8, 613835 for gene: CRB1
Publications for gene CRB1 were changed from to 23077403; 21484995
Structural eye disease v0.15 COL9A2 Ivone Leong Source NHS GMS was added to COL9A2.
Mode of inheritance for gene COL9A2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes STICKLER SYNDROME, TYPE V, 614284 for gene: COL9A2
Structural eye disease v0.15 COL9A1 Ivone Leong Source NHS GMS was added to COL9A1.
Mode of inheritance for gene COL9A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Stickler syndrome, type IV, 614134 for gene: COL9A1
Structural eye disease v0.15 COL2A1 Ivone Leong Source NHS GMS was added to COL2A1.
Mode of inheritance for gene COL2A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Epiphyseal dysplasia, multiple, with myopia and deafness; Kniest dysplasia, 156550; SED congenita; Stickler syndrome, type I, 108300; Stickler sydrome, type I, nonsyndromic ocular, 609508; Vitreoretinopathy with phalangeal epiphyseal dysplasia for gene: COL2A1
Publications for gene COL2A1 were changed from to 18541977, 17347327
Structural eye disease v0.15 COL11A2 Ivone Leong Source NHS GMS was added to COL11A2.
Mode of inheritance for gene COL11A2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.15 COL11A1 Ivone Leong Source NHS GMS was added to COL11A1.
Mode of inheritance for gene COL11A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Marshall syndrome, 154780; Stickler syndrome, type II, 604841 for gene: COL11A1
Structural eye disease v0.15 CNNM4 Ivone Leong Source NHS GMS was added to CNNM4.
Mode of inheritance for gene CNNM4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Jalili syndrome, 217080 for gene: CNNM4
Publications for gene CNNM4 were changed from to 27419834
Structural eye disease v0.15 CNGB3 Ivone Leong Source NHS GMS was added to CNGB3.
Mode of inheritance for gene CNGB3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Achromatopsia-3, 262300; Macular degeneration, juvenile, 248200 for gene: CNGB3
Structural eye disease v0.15 CNGB1 Ivone Leong Source NHS GMS was added to CNGB1.
Mode of inheritance for gene CNGB1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Retinitis pigmentosa 45, 613767 for gene: CNGB1
Structural eye disease v0.15 CNGA3 Ivone Leong Source NHS GMS was added to CNGA3.
Mode of inheritance for gene CNGA3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Achromatopsia-2, 216900 for gene: CNGA3
Publications for gene CNGA3 were changed from to 24504161
Structural eye disease v0.15 CNGA1 Ivone Leong Source NHS GMS was added to CNGA1.
Mode of inheritance for gene CNGA1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Retinitis pigmentosa 49, 613756 for gene: CNGA1
Structural eye disease v0.15 CLRN1 Ivone Leong Source NHS GMS was added to CLRN1.
Mode of inheritance for gene CLRN1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Usher syndrome, type 3A, 276902; Retinitis pigmentosa 61, 614180 for gene: CLRN1
Structural eye disease v0.15 CLN8 Ivone Leong Source NHS GMS was added to CLN8.
Mode of inheritance for gene CLN8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ceroid lipofuscinosis, neuronal, 8, 600143 for gene: CLN8
Structural eye disease v0.15 CLN6 Ivone Leong Source NHS GMS was added to CLN6.
Mode of inheritance for gene CLN6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ceroid lipofuscinosis, neuronal, 6, 601780 for gene: CLN6
Structural eye disease v0.15 CLN5 Ivone Leong Source NHS GMS was added to CLN5.
Mode of inheritance for gene CLN5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ceroid lipofuscinosis, neuronal, 5, 256731 for gene: CLN5
Structural eye disease v0.15 CLN3 Ivone Leong Source NHS GMS was added to CLN3.
Mode of inheritance for gene CLN3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ceroid lipofuscinosis, neuronal, 3, 204200 for gene: CLN3
Structural eye disease v0.15 CIB2 Ivone Leong Source NHS GMS was added to CIB2.
Mode of inheritance for gene CIB2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Usher syndrome, type IJ, 614869 for gene: CIB2
Structural eye disease v0.15 CHM Ivone Leong Source NHS GMS was added to CHM.
Mode of inheritance for gene CHM was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Choroideremia, 303100 for gene: CHM
Structural eye disease v0.15 CERKL Ivone Leong Source NHS GMS was added to CERKL.
Mode of inheritance for gene CERKL was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Retinitis pigmentosa 26, 608380 for gene: CERKL
Structural eye disease v0.15 CEP41 Ivone Leong Source NHS GMS was added to CEP41.
Added phenotypes Joubert syndrome 15, 614464 for gene: CEP41
Structural eye disease v0.15 CEP290 Ivone Leong Source NHS GMS was added to CEP290.
Source Expert Review Green was added to CEP290.
Added phenotypes Joubert syndrome 5, 610188; Leber congenital amaurosis 10, 611755; Meckel syndrome 4, 611134; ?Bardet-Biedl syndrome 14, 615991; Senior-Loken syndrome 6, 610189 for gene: CEP290
Publications for gene CEP290 were changed from to 30055837, 22355252
Rating Changed from Red List (low evidence) to Green List (high evidence)
Structural eye disease v0.15 CDHR1 Ivone Leong Source NHS GMS was added to CDHR1.
Mode of inheritance for gene CDHR1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Cone-rod dystrophy 15, 613660 for gene: CDHR1
Structural eye disease v0.15 CDH3 Ivone Leong Source NHS GMS was added to CDH3.
Mode of inheritance for gene CDH3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280; Hypotrichosis, congenital, with juvenile macular dystrophy, 601553 for gene: CDH3
Structural eye disease v0.15 CDH23 Ivone Leong Source NHS GMS was added to CDH23.
Mode of inheritance for gene CDH23 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Usher syndrome, type 1D, 601067 for gene: CDH23
Structural eye disease v0.15 CACNA2D4 Ivone Leong Source NHS GMS was added to CACNA2D4.
Mode of inheritance for gene CACNA2D4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Retinal cone dystrophy 4, 610478 for gene: CACNA2D4
Structural eye disease v0.15 CACNA1F Ivone Leong Source NHS GMS was added to CACNA1F.
Mode of inheritance for gene CACNA1F was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Cone-rod dystropy, X-linked, 3, 300476; Aland Island eye disease, 300600; Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071 for gene: CACNA1F
Structural eye disease v0.15 CABP4 Ivone Leong Source NHS GMS was added to CABP4.
Mode of inheritance for gene CABP4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Night blindness, congenital stationary (incomplete), 2B, autosomal recessive, 610427 for gene: CABP4
Structural eye disease v0.15 CA4 Ivone Leong Source NHS GMS was added to CA4.
Mode of inheritance for gene CA4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Retinitis pigmentosa 17, 600852 for gene: CA4
Structural eye disease v0.15 C8orf37 Ivone Leong Source NHS GMS was added to C8orf37.
Mode of inheritance for gene C8orf37 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Cone-rod dystrophy 16, 614500 for gene: C8orf37
Structural eye disease v0.15 C5orf42 Ivone Leong Source NHS GMS was added to C5orf42.
Added phenotypes Joubert syndrome 17, 614615 for gene: C5orf42
Publications for gene C5orf42 were changed from 22425360; 22693042; 25920555 to 24178751
Structural eye disease v0.15 C2orf71 Ivone Leong Source NHS GMS was added to C2orf71.
Mode of inheritance for gene C2orf71 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Retinitis pigmentosa 54, 613428 for gene: C2orf71
Structural eye disease v0.15 C1QTNF5 Ivone Leong Source NHS GMS was added to C1QTNF5.
Mode of inheritance for gene C1QTNF5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Retinal degeneration, late-onset, autosomal dominant, 605670 for gene: C1QTNF5
Structural eye disease v0.15 BMPR1A Ivone Leong Source NHS GMS was added to BMPR1A.
Mode of inheritance for gene BMPR1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene BMPR1A were changed from to 29522511
Structural eye disease v0.15 BMP7 Ivone Leong Source NHS GMS was added to BMP7.
Mode of pathogenicity for gene BMP7 was changed from to other - please provide details in the comments
Added phenotypes Microphthalmia, anophthalmia, systemic abnormalities, intellectual disability; None for gene: BMP7
Publications for gene BMP7 were changed from 20506283 to 20506283; 7590254
Structural eye disease v0.15 BEST1 Ivone Leong Source NHS GMS was added to BEST1.
Source Expert Review Green was added to BEST1.
Mode of inheritance for gene BEST1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Retinitis pigmentosa, concentric, 613194; Vitelliform Macular degeneration 2, 153700; Microcornea, rod-cone dystrophy, cataract, and posterior; Bestrophinopathy, autosomal recessive, 611809; staphyloma; 193220 for gene: BEST1
Publications for gene BEST1 were changed from to 21473666; 15452077
Rating Changed from Red List (low evidence) to Green List (high evidence)
Structural eye disease v0.15 BBS9 Ivone Leong Source NHS GMS was added to BBS9.
Mode of inheritance for gene BBS9 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Bardet-Biedl syndrome9, 615986 for gene: BBS9
Structural eye disease v0.15 BBS7 Ivone Leong Source NHS GMS was added to BBS7.
Mode of inheritance for gene BBS7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Bardet-Biedl syndrome7, 615984 for gene: BBS7
Structural eye disease v0.15 BBS5 Ivone Leong Source NHS GMS was added to BBS5.
Mode of inheritance for gene BBS5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Bardet-Biedl syndrome5, 615983 for gene: BBS5
Structural eye disease v0.15 BBS4 Ivone Leong Source NHS GMS was added to BBS4.
Mode of inheritance for gene BBS4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Bardet-Biedl syndrome4, 615982 for gene: BBS4
Structural eye disease v0.15 BBS2 Ivone Leong Source NHS GMS was added to BBS2.
Mode of inheritance for gene BBS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Retinitis pigmentosa 74, 616562; Bardet-Biedl syndrome2, 615981 for gene: BBS2
Structural eye disease v0.15 BBS12 Ivone Leong Source NHS GMS was added to BBS12.
Mode of inheritance for gene BBS12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Bardet-Biedl syndrome12, 615989 for gene: BBS12
Structural eye disease v0.15 BBS10 Ivone Leong Source NHS GMS was added to BBS10.
Mode of inheritance for gene BBS10 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Bardet-Biedl syndrome10, 615987 for gene: BBS10
Structural eye disease v0.15 BBS1 Ivone Leong Source NHS GMS was added to BBS1.
Mode of inheritance for gene BBS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Bardet-Biedl syndrome1, 209900 for gene: BBS1
Structural eye disease v0.15 B3GLCT Ivone Leong Source NHS GMS was added to B3GLCT.
Source Expert Review Green was added to B3GLCT.
Mode of inheritance for gene B3GLCT was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Peters-plus syndrome 261540 for gene: B3GLCT
Publications for gene B3GLCT were changed from to 19796186; 16909395; 18798333
Rating Changed from Red List (low evidence) to Green List (high evidence)
Structural eye disease v0.15 ATP13A2 Ivone Leong Source NHS GMS was added to ATP13A2.
Mode of inheritance for gene ATP13A2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes KUFOR-RAKEB SYNDROME, 606693; SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE, 617225 for gene: ATP13A2
Structural eye disease v0.15 ATOH7 Ivone Leong Source NHS GMS was added to ATOH7.
Added phenotypes Persistent hyperplastic primary vitreous, autosomal recessive (can include microphthalmia), 221900 for gene: ATOH7
Publications for gene ATOH7 were changed from 1838; 8779 to 11493566; 22068589; 1838; 8779
Structural eye disease v0.15 ASB10 Ivone Leong Source NHS GMS was added to ASB10.
Mode of inheritance for gene ASB10 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes GLAUCOMA 1, OPEN ANGLE, F, 603383 for gene: ASB10
Structural eye disease v0.15 ARL6 Ivone Leong Source NHS GMS was added to ARL6.
Mode of inheritance for gene ARL6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Bardet-Biedl syndrome 3, 600151; {Bardet-Biedl syndrome 1, modifier of} 209900; Retinitis pigmentosa 55, 613575 for gene: ARL6
Publications for gene ARL6 were changed from to 19097054
Structural eye disease v0.15 ARL13B Ivone Leong Source NHS GMS was added to ARL13B.
Added phenotypes Joubert syndrome 8 612291 for gene: ARL13B
Publications for gene ARL13B were changed from 18674751; 25138100 to 25138100; 18674751
Structural eye disease v0.15 ALMS1 Ivone Leong Source NHS GMS was added to ALMS1.
Mode of inheritance for gene ALMS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Alstrom syndrome 203800 for gene: ALMS1
Structural eye disease v0.15 AIPL1 Ivone Leong Source NHS GMS was added to AIPL1.
Mode of inheritance for gene AIPL1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Cone-rod dystrophy; Retinitis pigmentosa, juvenile; Leber congenital amaurosis 4, 604393 for gene: AIPL1
Publications for gene AIPL1 were changed from to 25148430
Structural eye disease v0.15 AHI1 Ivone Leong Source NHS GMS was added to AHI1.
Added phenotypes Joubert syndrome 3, 608629 for gene: AHI1
Structural eye disease v0.15 ADGRV1 Ivone Leong Source NHS GMS was added to ADGRV1.
Mode of inheritance for gene ADGRV1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Usher syndrome, type 2C, 605472 for gene: ADGRV1
Structural eye disease v0.15 ADAM9 Ivone Leong Source NHS GMS was added to ADAM9.
Mode of inheritance for gene ADAM9 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Cone-rod dystrophy 9, 612775 for gene: ADAM9
Publications for gene ADAM9 were changed from to 25091951
Structural eye disease v0.15 ABHD12 Ivone Leong Source NHS GMS was added to ABHD12.
Mode of inheritance for gene ABHD12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 612674 for gene: ABHD12
Structural eye disease v0.15 ABCB6 Ivone Leong Source NHS GMS was added to ABCB6.
Mode of inheritance for gene ABCB6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of pathogenicity for gene ABCB6 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Added phenotypes Microphthalmia, isolated, with coloboma 7 614497 for gene: ABCB6
Publications for gene ABCB6 were changed from to 22226084
Structural eye disease v0.15 ABCA4 Ivone Leong Source NHS GMS was added to ABCA4.
Mode of inheritance for gene ABCA4 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Cone-rod dystrophy 3, 604116; Retinal dystrophy, early-onset severe; Fundus flavimaculatus; {Macular degeneration, age-related, 2}, 153800; Retinitis pigmentosa 19, 601718; Stargardt disease 1, 248200 for gene: ABCA4
Structural eye disease v0.15 TUBGCP4 Ivone Leong Source NHS GMS was added to TUBGCP4.
Added phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335 for gene: TUBGCP4
Structural eye disease v0.15 SBF2 Ivone Leong Source NHS GMS was added to SBF2.
Added phenotypes Charcot-Marie-Tooth disease, type 4B2 604563; CMT with early onset glaucoma for gene: SBF2
Publications for gene SBF2 were changed from to 15304601; 12687498
Structural eye disease v0.15 RBP4 Ivone Leong Source NHS GMS was added to RBP4.
Added phenotypes Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, 615147 for gene: RBP4
Publications for gene RBP4 were changed from 9888420 to 25910211; 9888420; 27892788
Structural eye disease v0.15 PIGL Ivone Leong Source NHS GMS was added to PIGL.
Source Expert Review Green was added to PIGL.
Added phenotypes CHIME syndrome, 280000; Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,Mental Retardation, and Ear Anomalies Syndrome for gene: PIGL
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v0.15 MAF Ivone Leong Source NHS GMS was added to MAF.
Source Expert Review Green was added to MAF.
Mode of pathogenicity for gene MAF was changed from to Other - please provide details in the comments
Added phenotypes Cataract 21, multiple types 610202 for gene: MAF
Publications for gene MAF were changed from 11772997 to 12642301; 17982426
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v0.15 LRP2 Ivone Leong Source NHS GMS was added to LRP2.
Source Expert Review Green was added to LRP2.
Added phenotypes Donnai-Barrow syndrome, 222448 for gene: LRP2
Publications for gene LRP2 were changed from 17632512, 8266995 to 8266995; 18553518; 17632512
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v0.15 IGBP1 Ivone Leong Source NHS GMS was added to IGBP1.
Mode of inheritance for gene IGBP1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Corpus callosum, agenesis of, with mental retardation, ocular coloboma andmicrognathia, 300472 for gene: IGBP1
Publications for gene IGBP1 were changed from to 14556245
Structural eye disease v0.15 HMX1 Ivone Leong Source NHS GMS was added to HMX1.
Source Expert Review Green was added to HMX1.
Mode of inheritance for gene HMX1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Oculoauricular syndrome 612109 for gene: HMX1
Publications for gene HMX1 were changed from 18423520; 21417677; 25574057 to 21417677; 29140751; 25574057; 18423520
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v0.15 GJA1 Ivone Leong Source NHS GMS was added to GJA1.
Mode of pathogenicity for gene GJA1 was changed from to Other - please provide details in the comments
Added phenotypes open angle glaucoma (OAG) and microcornea; Oculodentodigital dysplasia for gene: GJA1
Publications for gene GJA1 were changed from 21273537; 25976645 to 15637728; 25976645; 21273537; 30628995; 24508941
Structural eye disease v0.15 DDX58 Ivone Leong Source NHS GMS was added to DDX58.
Source Expert Review Green was added to DDX58.
Added phenotypes Atypical Singleton-Merton syndrome (AD) - glaucoma and skeletal abnormalities. for gene: DDX58
Publications for gene DDX58 were changed from 3588; 25620203; 2509 to 25620203; 30574673
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v0.15 YAP1 Ivone Leong Source NHS GMS was added to YAP1.
Mode of pathogenicity for gene YAP1 was changed from to Other - please provide details in the comments
Added phenotypes Coloboma, ocular, 120433; Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mentalretardation, 120433; isolated ocular coloboma for gene: YAP1
Publications for gene YAP1 were changed from 24462371; 27267789; 26209646 to 24462371; 27267789; 28801591
Structural eye disease v0.15 VSX2 Ivone Leong Source NHS GMS was added to VSX2.
Added phenotypes Microphthalmia with coloboma 3, 610092 for gene: VSX2
Publications for gene VSX2 were changed from 10932181, 24859618 to 20414678; 10932181
Structural eye disease v0.15 TMEM98 Ivone Leong Source NHS GMS was added to TMEM98.
Mode of pathogenicity for gene TMEM98 was changed from to Other - please provide details in the comments
Added phenotypes NNO4 Nanophthalmos 4, 615972 for gene: TMEM98
Publications for gene TMEM98 were changed from 26392740; 24852644 to 24852644; 26392740
Structural eye disease v0.15 TBC1D20 Ivone Leong Source NHS GMS was added to TBC1D20.
Added phenotypes Warburg micro syndrome 4, 615663 for gene: TBC1D20
Publications for gene TBC1D20 were changed from to 24239381
Structural eye disease v0.15 STRA6 Ivone Leong Source NHS GMS was added to STRA6.
Added phenotypes Microphthalmia, syndromic 9, 601186; Microphthalmia, isolated, with coloboma 8, 601186; Syndromic Microphthalmia, Recessive for gene: STRA6
Publications for gene STRA6 were changed from 17273977, 24859618 to 24859618; 17273977
Structural eye disease v0.15 SOX2 Ivone Leong Source NHS GMS was added to SOX2.
Mode of pathogenicity for gene SOX2 was changed from to Other - please provide details in the comments
Added phenotypes Microphthalmia, syndromic 3 206900 for gene: SOX2
Publications for gene SOX2 were changed from 12612584, 24859618 to 12612584; 24859618
Structural eye disease v0.15 SMOC1 Ivone Leong Source NHS GMS was added to SMOC1.
Added phenotypes Microphthalmia with limb anomalies, 206920 for gene: SMOC1
Publications for gene SMOC1 were changed from to 30445150; 21194678; 21194680
Structural eye disease v0.15 SMO Ivone Leong Source NHS GMS was added to SMO.
Mode of pathogenicity for gene SMO was changed from to Other - please provide details in the comments
Added phenotypes Curry-Jones syndrome, somatic mosaic 601707 for gene: SMO
Structural eye disease v0.15 SIX6 Ivone Leong Source NHS GMS was added to SIX6.
Mode of inheritance for gene SIX6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown - Change
Mode of pathogenicity for gene SIX6 was changed from to Other - please provide details in the comments
Added phenotypes Microphthalmia with cataract 2, 212550; Anophthalmia/Microphthalmia; Optic disc anomalies with retinal and/or macular dystrophy, 212550 for gene: SIX6
Publications for gene SIX6 were changed from 23167593, 24702266 to 15266624; 29450879; 23167593; 24702266
Structural eye disease v0.15 SHH Ivone Leong Source NHS GMS was added to SHH.
Added phenotypes Holoprosencephaly-3, 142945; Schizencephaly, 269160; Single median maxillary central incisor, 147250; Microphthalmia with coloboma 5, 611638 for gene: SHH
Publications for gene SHH were changed from to 20425842; 12503095
Structural eye disease v0.15 SALL4 Ivone Leong Source NHS GMS was added to SALL4.
Added phenotypes Duane-radial ray syndrome, 607323 for gene: SALL4
Publications for gene SALL4 were changed from 12843316, 6426304 to 12843316; 6426304
Structural eye disease v0.15 RPGRIP1L Ivone Leong Source NHS GMS was added to RPGRIP1L.
Added phenotypes COACH syndrome, 216360 for gene: RPGRIP1L
Structural eye disease v0.15 RAX Ivone Leong Source NHS GMS was added to RAX.
Added phenotypes Anophthalmia/Microphthalmia for gene: RAX
Publications for gene RAX were changed from to 24033328; 14662654; 18783408
Structural eye disease v0.15 RARB Ivone Leong Source NHS GMS was added to RARB.
Mode of pathogenicity for gene RARB was changed from to Other - please provide details in the comments
Added phenotypes Microphthalmia, syndromic 12, 615524 for gene: RARB
Structural eye disease v0.15 RAB3GAP2 Ivone Leong Source NHS GMS was added to RAB3GAP2.
Added phenotypes Martsolf syndrome, 212720; Warburg micro syndrome 2, 614225; Warburg Micro Syndrome for gene: RAB3GAP2
Publications for gene RAB3GAP2 were changed from to 23420520
Structural eye disease v0.15 RAB3GAP1 Ivone Leong Source NHS GMS was added to RAB3GAP1.
Added phenotypes Warburg micro syndrome 1, 600118; Warburg Micro Syndrome for gene: RAB3GAP1
Publications for gene RAB3GAP1 were changed from to 21473985
Structural eye disease v0.15 RAB18 Ivone Leong Source NHS GMS was added to RAB18.
Added phenotypes Warburg Micro Syndrome; Warburg micro syndrome 3, 614222 for gene: RAB18
Publications for gene RAB18 were changed from to 21473985
Structural eye disease v0.15 PUF60 Ivone Leong Source NHS GMS was added to PUF60.
Mode of pathogenicity for gene PUF60 was changed from to Other - please provide details in the comments
Added phenotypes Verheij syndrome, 615583; PUF60 syndrome; Chromosome 8q24.3 deletion syndrome; VRJS; ocular abnormalities for gene: PUF60
Publications for gene PUF60 were changed from 19464398; 24140112; 27804958; 28327570 to 27804958; 24140112; 28327570; 19464398
Structural eye disease v0.15 PRSS56 Ivone Leong Source NHS GMS was added to PRSS56.
Added phenotypes Microphthalmia, isolated 6, 613517 for gene: PRSS56
Publications for gene PRSS56 were changed from to 29450879
Structural eye disease v0.15 PORCN Ivone Leong Source NHS GMS was added to PORCN.
Added phenotypes Focal dermal hypoplasia 305600 for gene: PORCN
Publications for gene PORCN were changed from 17546030, 24859618 to 24859618; 17546030
Structural eye disease v0.15 PITX2 Ivone Leong Source NHS GMS was added to PITX2.
Mode of pathogenicity for gene PITX2 was changed from to Other - please provide details in the comments
Added phenotypes Axenfeld-Rieger syndrome, type 1 180500; Anterior segment dysgenesis 4 137600 for gene: PITX2
Publications for gene PITX2 were changed from 9685346; 9618168; 10051017; 8944018; 18723525; 11487566 to 9685346; 18723525; 11487566; 9618168; 10051017; 8944018
Structural eye disease v0.15 PAX6 Ivone Leong Source NHS GMS was added to PAX6.
Mode of pathogenicity for gene PAX6 was changed from to Other - please provide details in the comments
Added phenotypes Coloboma of optic nerve, 120430; Peters anomaly, 604229; Coloboma, ocular, 120200; Aniridia, 106210; Optic nerve hypoplasia, 165550; Aniridia 106210; Foveal hypoplasia 1, 136520; ?Morning glory disc anomaly, 120430; Keratitis, 148190; Anophthalmia; Cataract with late-onset corneal dystrohpy, 106210; Gillespie syndrome, 206700 for gene: PAX6
Publications for gene PAX6 were changed from 12552561; 11826019; 11553050; 17406642; 7666404; 17595013; 8111379; 7550230; 7951315; 9931324; 1302030; 19876904; 17148041 to 17406642; 11826019; 1302030; 19876904; 17148041; 8111379; 9931324; 7666404; 17595013; 12552561; 7951315; 11553050; 7550230
Structural eye disease v0.15 PAX2 Ivone Leong Source NHS GMS was added to PAX2.
Mode of pathogenicity for gene PAX2 was changed from to Other - please provide details in the comments
Added phenotypes Papillorenal syndrome 120330 for gene: PAX2
Publications for gene PAX2 were changed from 8589702; 22213154; 10533062 to 10533062; 8589702; 22213154
Structural eye disease v0.15 OTX2 Ivone Leong Source NHS GMS was added to OTX2.
Mode of pathogenicity for gene OTX2 was changed from to Other - please provide details in the comments
Added phenotypes severe, bilateral cases; OTX2-Related Syndromic Microphthalmia; Microphthalmia, syndromic 5, 610125 for gene: OTX2
Publications for gene OTX2 were changed from 15846561, 18781617,24859618 to 15846561; 24859618; 18781617
Structural eye disease v0.15 MYOC Ivone Leong Source NHS GMS was added to MYOC.
Added phenotypes Glaucoma 1A, primary open angle, 137750 for gene: MYOC
Publications for gene MYOC were changed from 9535666; 12522550; 9345106; 9328473; 9005853; 9697688; 10330365 to 9697688; 9005853; 9328473; 12522550; 10330365; 9535666; 9345106
Structural eye disease v0.15 MFRP Ivone Leong Source NHS GMS was added to MFRP.
Added phenotypes Isolated Microphthalmia; Microphthalmia, isolated 5, 611040 for gene: MFRP
Publications for gene MFRP were changed from to 29450879
Structural eye disease v0.15 MAB21L2 Ivone Leong Source NHS GMS was added to MAB21L2.
Mode of pathogenicity for gene MAB21L2 was changed from to Other - please provide details in the comments
Added phenotypes Microphthalmia, syndromic 14, 615877 for gene: MAB21L2
Structural eye disease v0.15 LTBP2 Ivone Leong Source NHS GMS was added to LTBP2.
Added phenotypes Glaucoma 3, primary congenital, D 613086; Primary Congenital Glaucoma for gene: LTBP2
Structural eye disease v0.15 HCCS Ivone Leong Source NHS GMS was added to HCCS.
Added phenotypes Microphthalmia, syndromic 7, 309801; Linear skin defects with multiple congenital anomalies 1, 309801 for gene: HCCS
Publications for gene HCCS were changed from 17033964, 24859618 to 24859618; 17033964
Structural eye disease v0.15 GRIP1 Ivone Leong Source NHS GMS was added to GRIP1.
Added phenotypes FRASER SYNDROME 3 617667 for gene: GRIP1
Publications for gene GRIP1 were changed from to 22510445
Structural eye disease v0.15 FREM2 Ivone Leong Source NHS GMS was added to FREM2.
Added phenotypes FRASER SYNDROME 2 617666 for gene: FREM2
Publications for gene FREM2 were changed from to 15838507
Structural eye disease v0.15 FREM1 Ivone Leong Source NHS GMS was added to FREM1.
Added phenotypes MANITOBA OCULOTRICHOANAL SYNDROME 248450 for gene: FREM1
Publications for gene FREM1 were changed from to 21507892
Structural eye disease v0.15 FRAS1 Ivone Leong Source NHS GMS was added to FRAS1.
Added phenotypes FRASER SYNDROME 1 219000 for gene: FRAS1
Publications for gene FRAS1 were changed from to 12766769
Structural eye disease v0.15 FOXE3 Ivone Leong Source NHS GMS was added to FOXE3.
Mode of pathogenicity for gene FOXE3 was changed from to Other - please provide details in the comments
Added phenotypes Anterior segment mesenchymal dysgenesis 107250; Anterior segment dysgenesis 2, multiple subtypes 610256 for gene: FOXE3
Publications for gene FOXE3 were changed from 11159941; 21150893; 27218149; 16826526; 20361012; 24859618, 19708017 to 16826526; 24859618, 19708017; 20361012; 11159941; 27218149; 21150893
Structural eye disease v0.15 FOXD3 Ivone Leong Source NHS GMS was added to FOXD3.
Mode of pathogenicity for gene FOXD3 was changed from to Other - please provide details in the comments
Added phenotypes Anterior segment dysgenesis; Peters anomaly; aniridia for gene: FOXD3
Structural eye disease v0.15 FOXC1 Ivone Leong Source NHS GMS was added to FOXC1.
Mode of pathogenicity for gene FOXC1 was changed from to Other - please provide details in the comments
Added phenotypes Axenfeld-Rieger syndrome, type 3 602482; Anterior segment dysgenesis 3, multiple subtypes 601631 for gene: FOXC1
Publications for gene FOXC1 were changed from 9620769; 10713890; 12036988; 17210863; 12614756; 11007653 to 12036988; 17210863; 9620769; 10713890; 11007653; 12614756
Structural eye disease v0.15 CYP1B1 Ivone Leong Source NHS GMS was added to CYP1B1.
Added phenotypes Peters anomaly, 604229; Glaucoma 3, Primary Congenital, A, GLC3A, 231300; primary congenital glaucoma; Primary Congenital Glaucoma; Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset for gene: CYP1B1
Publications for gene CYP1B1 were changed from 9463332; 9097971; 9497261; 12372064 to 12372064; 9463332; 9097971; 9497261
Structural eye disease v0.15 COL4A1 Ivone Leong Source NHS GMS was added to COL4A1.
Mode of pathogenicity for gene COL4A1 was changed from to Other - please provide details in the comments
Added phenotypes BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES 175780 for gene: COL4A1
Publications for gene COL4A1 were changed from to 30181649; 24628545
Structural eye disease v0.15 CLDN19 Ivone Leong Source NHS GMS was added to CLDN19.
Added phenotypes Hypomagnesemia 5, renal, with ocular involvement, 248190 for gene: CLDN19
Publications for gene CLDN19 were changed from 17033971, 500385 to 17033971; 500385
Structural eye disease v0.15 CHD7 Ivone Leong Source NHS GMS was added to CHD7.
Mode of pathogenicity for gene CHD7 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to Other - please provide details in the comments
Added phenotypes CHARGE syndrome, 214800 for gene: CHD7
Structural eye disease v0.15 CC2D2A Ivone Leong Source NHS GMS was added to CC2D2A.
Added phenotypes COACH syndrome, 216360 for gene: CC2D2A
Structural eye disease v0.15 C12orf57 Ivone Leong Source NHS GMS was added to C12orf57.
Added phenotypes Temtamy syndrome, 218340 for gene: C12orf57
Publications for gene C12orf57 were changed from 23453665, 24859618 to 23453665 24859618
Structural eye disease v0.15 BMP4 Ivone Leong Source NHS GMS was added to BMP4.
Added phenotypes Orofacial cleft 11, 600625; Microphthalmia, syndromic 6, 607932; BMP4-Related Syndromic Microphthalmia for gene: BMP4
Publications for gene BMP4 were changed from 18252212, 2427285 to 18252212; 2427285
Structural eye disease v0.15 BCOR Ivone Leong Source NHS GMS was added to BCOR.
Mode of pathogenicity for gene BCOR was changed from to Other - please provide details in the comments
Added phenotypes Microphthalmia, syndromic 2, 300166 for gene: BCOR
Publications for gene BCOR were changed from to 29974297; 15004558; 17517692
Structural eye disease v0.15 ALDH1A3 Ivone Leong Source NHS GMS was added to ALDH1A3.
Added phenotypes Microphthalmia, isolated 8 615113 for gene: ALDH1A3
Publications for gene ALDH1A3 were changed from 24859610; 23591992 to 23591992; 24859610
Structural eye disease v0.15 ADAMTS17 Ivone Leong Source NHS GMS was added to ADAMTS17.
Added phenotypes Weill-Marchesani-like syndrome- lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature, but no brachydactyly (AR) for gene: ADAMTS17
Publications for gene ADAMTS17 were changed from 6506; 19836009; 2268 to 19836009
Structural eye disease v0.15 ADAMTS10 Ivone Leong Source NHS GMS was added to ADAMTS10.
Added phenotypes Weill-Marchesani syndrome 1, recessive for gene: ADAMTS10
Structural eye disease v0.15 ACTG1 Ivone Leong Source NHS GMS was added to ACTG1.
Mode of pathogenicity for gene ACTG1 was changed from to Other - please provide details in the comments
Added phenotypes Baraitser-Winter syndrome 2, 614583 for gene: ACTG1
Structural eye disease v0.15 ACTB Ivone Leong Source NHS GMS was added to ACTB.
Mode of pathogenicity for gene ACTB was changed from to Other - please provide details in the comments
Added phenotypes Baraitser-Winter syndrome 1, 243310 for gene: ACTB
Structural eye disease v0.14 EFTUD2 Ivone Leong Mode of inheritance for gene: EFTUD2 was changed from mONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 VMA21 Louise Daugherty Mode of inheritance for gene VMA21 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Myopathy, X-linked, with excessive autophagy, 310440 for gene: VMA21
Publications for gene VMA21 were changed from to 23315026; 19379691
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 TPM3 Louise Daugherty Mode of inheritance for gene TPM3 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes CAP myopathy 1, 609284; Nemaline myopathy 1, autosomal dominant or recessive, 609284 for gene: TPM3
Publications for gene TPM3 were changed from to 7704029; 10619715
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 TPM2 Louise Daugherty Mode of inheritance for gene TPM2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Arthrogryposis multiplex congenita, distal, type 1, 108120 for gene: TPM2
Publications for gene TPM2 were changed from to 7977374; 12592607
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 TNNT3 Louise Daugherty Mode of inheritance for gene TNNT3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Arthrogryposis, distal, type 2B, 601680 for gene: TNNT3
Publications for gene TNNT3 were changed from to 12865991; 12592607
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 SELENON Louise Daugherty Mode of inheritance for gene SELENON was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Muscular dystrophy, rigid spine, 1, 602771 for gene: SELENON
Publications for gene SELENON were changed from to 15122708; 11528383
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 SCN4A Louise Daugherty Mode of inheritance for gene SCN4A was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Hyperkalemic periodic paralysis, type 2, 170500 for gene: SCN4A
Publications for gene SCN4A were changed from to 1651050; 1659948
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 RYR1 Louise Daugherty Mode of inheritance for gene RYR1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Neuromuscular disease, congenital, with uniform type 1 fiber, 117000; Central core disease, 117000 for gene: RYR1
Publications for gene RYR1 were changed from to 8220422; 8220423
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 RAPSN Louise Daugherty Mode of inheritance for gene RAPSN was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Fetal akinesia deformation sequence 1, 208150 for gene: RAPSN
Publications for gene RAPSN were changed from to 18179903
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 PYGM Louise Daugherty Mode of inheritance for gene PYGM was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes McArdle disease, 232600 for gene: PYGM
Publications for gene PYGM were changed from to 8316268; 12666117
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 POLG Louise Daugherty Mode of inheritance for gene POLG was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 for gene: POLG
Publications for gene POLG were changed from to 15122711
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 PHKA1 Louise Daugherty Mode of inheritance for gene PHKA1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Muscle glycogenosis, 300559 for gene: PHKA1
Publications for gene PHKA1 were changed from to 2252364; 7874115
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 PGK1 Louise Daugherty Mode of inheritance for gene PGK1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Phosphoglycerate kinase 1 deficiency, 300653 for gene: PGK1
Publications for gene PGK1 were changed from to 6933565
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 PFKM Louise Daugherty Mode of inheritance for gene PFKM was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Glycogen storage disease VII, 232800 for gene: PFKM
Publications for gene PFKM were changed from to 7603526
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 NEB Louise Daugherty Mode of inheritance for gene NEB was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Nemaline myopathy 2, autosomal recessive, 256030 for gene: NEB
Publications for gene NEB were changed from to 9359044; 12207937
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 MYH7 Louise Daugherty Mode of inheritance for gene MYH7 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Laing distal myopathy, 160500 for gene: MYH7
Publications for gene MYH7 were changed from to 15322983
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 MYH14 Louise Daugherty Mode of inheritance for gene MYH14 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369 for gene: MYH14
Publications for gene MYH14 were changed from to 21480433
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 MTM1 Louise Daugherty Mode of inheritance for gene MTM1 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
Added phenotypes Myotubular myopathy, X-linked, 310400 for gene: MTM1
Publications for gene MTM1 were changed from 8640223; 9285787; 9305655; 10790201; 10502779 to 9305655; 9285787
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 MATR3 Louise Daugherty Mode of inheritance for gene MATR3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Amyotrophic lateral sclerosis 21, 606070 for gene: MATR3
Publications for gene MATR3 were changed from to 19344878
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 LPIN1 Louise Daugherty Mode of inheritance for gene LPIN1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Myoglobinuria, acute recurrent, autosomal recessive, 268200 for gene: LPIN1
Publications for gene LPIN1 were changed from to 18817903
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 LAMP2 Louise Daugherty Mode of inheritance for gene LAMP2 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Danon disease, 300257 for gene: LAMP2
Publications for gene LAMP2 were changed from to 10972294
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 LAMA2 Louise Daugherty Mode of inheritance for gene LAMA2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855 for gene: LAMA2
Publications for gene LAMA2 were changed from to 12552556; 7550355
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 GYG1 Louise Daugherty Mode of inheritance for gene GYG1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Glycogen storage disease XV, 613507 for gene: GYG1
Publications for gene GYG1 were changed from to 20357282
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 GFPT1 Louise Daugherty Mode of inheritance for gene GFPT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Myasthenia, congenital, 12, with tubular aggregates, 610542 for gene: GFPT1
Publications for gene GFPT1 were changed from to 21310273
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 GBE1 Louise Daugherty Mode of inheritance for gene GBE1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Glycogen storage disease IV, 232500 for gene: GBE1
Publications for gene GBE1 were changed from to 8613547
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 ETFDH Louise Daugherty Mode of inheritance for gene ETFDH was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Glutaric acidemia IIC, 231680; Glutaric acidemia IIA, 231680; Glutaric acidemia IIB, 231680 for gene: ETFDH
Publications for gene ETFDH were changed from to 17412732
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 DPM3 Louise Daugherty Mode of inheritance for gene DPM3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937 for gene: DPM3
Publications for gene DPM3 were changed from to 28803818; 19576565
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 DOK7 Louise Daugherty Mode of inheritance for gene DOK7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Fetal akinesia deformation sequence 1, 208150 for gene: DOK7
Publications for gene DOK7 were changed from to 19261599
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 DNM2 Louise Daugherty Mode of inheritance for gene DNM2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Centronuclear myopathy 1, 160150 for gene: DNM2
Publications for gene DNM2 were changed from to 17932957
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 CRYAB Louise Daugherty Mode of inheritance for gene CRYAB was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Cataract 16, multiple types, 613763 for gene: CRYAB
Publications for gene CRYAB were changed from to 11577372
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 CPT2 Louise Daugherty Mode of inheritance for gene CPT2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes CPT II deficiency, infantile, 600649 for gene: CPT2
Publications for gene CPT2 were changed from to 1528846; 8651281
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 COLQ Louise Daugherty Mode of inheritance for gene COLQ was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Myasthenic syndrome, congenital, 5, 603034 for gene: COLQ
Publications for gene COLQ were changed from to 9689136
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 COL12A1 Louise Daugherty Mode of inheritance for gene COL12A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Ullrich congenital muscular dystrophy 2, 616470 for gene: COL12A1
Publications for gene COL12A1 were changed from to 24334604
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 CLCN1 Louise Daugherty Mode of inheritance for gene CLCN1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Myotonia congenita, dominant, 160800 for gene: CLCN1
Publications for gene CLCN1 were changed from to 8112288; 7981750
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 CHRND Louise Daugherty Mode of inheritance for gene CHRND was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Myasthenic syndrome, congenital, 3A, slow-channel, 616321 for gene: CHRND
Publications for gene CHRND were changed from to 11782989
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 BAG3 Louise Daugherty Mode of inheritance for gene BAG3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Myopathy, myofibrillar, 6, 612954 for gene: BAG3
Publications for gene BAG3 were changed from to 19085932; 20605452
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 ATP2A1 Louise Daugherty Mode of inheritance for gene ATP2A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Brody myopathy, 601003 for gene: ATP2A1
Publications for gene ATP2A1 were changed from to 8841193; 9367679
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 AGL Louise Daugherty Mode of inheritance for gene AGL was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Glycogen storage disease IIIb, 232400; Glycogen storage disease IIIc, 232400 for gene: AGL
Publications for gene AGL were changed from to 8755644; 8990006
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 ACTA1 Louise Daugherty Mode of inheritance for gene ACTA1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Myopathy, scapulohumeroperoneal, 616852 for gene: ACTA1
Publications for gene ACTA1 were changed from to 25938801
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 ACADVL Louise Daugherty Mode of inheritance for gene ACADVL was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes VLCAD deficiency, 201475 for gene: ACADVL
Publications for gene ACADVL were changed from to 7668252; 27246109
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 SELENON Louise Daugherty commented on gene: SELENON
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 VMA21 Ana Topf reviewed gene: VMA21: Rating: GREEN; Mode of pathogenicity: ; Publications: 23315026, 19379691; Phenotypes: Myopathy, X-linked, with excessive autophagy, 310440; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 TPM3 Ana Topf reviewed gene: TPM3: Rating: GREEN; Mode of pathogenicity: ; Publications: 7704029, 10619715; Phenotypes: Nemaline myopathy 1, autosomal dominant or recessive, 609284, CAP myopathy 1, 609284; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 TPM2 Ana Topf reviewed gene: TPM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 12592607, 7977374; Phenotypes: Arthrogryposis multiplex congenita, distal, type 1, 108120; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 TNNT3 Ana Topf reviewed gene: TNNT3: Rating: GREEN; Mode of pathogenicity: ; Publications: 12592607, 12865991; Phenotypes: Arthrogryposis, distal, type 2B, 601680; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 SELENON Ana Topf reviewed gene: SELENON: Rating: GREEN; Mode of pathogenicity: ; Publications: 11528383, 15122708; Phenotypes: Muscular dystrophy, rigid spine, 1, 602771; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 SCN4A Ana Topf reviewed gene: SCN4A: Rating: GREEN; Mode of pathogenicity: ; Publications: 1651050, 1659948; Phenotypes: Hyperkalemic periodic paralysis, type 2, 170500; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 RYR1 Ana Topf reviewed gene: RYR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 8220422, 8220423; Phenotypes: Neuromuscular disease, congenital, with uniform type 1 fiber, 117000, Central core disease, 117000; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 RAPSN Ana Topf reviewed gene: RAPSN: Rating: GREEN; Mode of pathogenicity: ; Publications: 18179903; Phenotypes: Fetal akinesia deformation sequence 1, 208150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 PYGM Ana Topf reviewed gene: PYGM: Rating: GREEN; Mode of pathogenicity: ; Publications: 8316268, 12666117; Phenotypes: McArdle disease, 232600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 POLG Ana Topf reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: ; Publications: 15122711; Phenotypes: Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 PHKA1 Ana Topf reviewed gene: PHKA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 7874115, 2252364; Phenotypes: Muscle glycogenosis, 300559; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 PGK1 Ana Topf reviewed gene: PGK1: Rating: GREEN; Mode of pathogenicity: ; Publications: 6933565; Phenotypes: Phosphoglycerate kinase 1 deficiency, 300653; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 PFKM Ana Topf reviewed gene: PFKM: Rating: GREEN; Mode of pathogenicity: ; Publications: 7603526; Phenotypes: Glycogen storage disease VII, 232800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 NEB Ana Topf reviewed gene: NEB: Rating: GREEN; Mode of pathogenicity: ; Publications: 9359044, 12207937; Phenotypes: Nemaline myopathy 2, autosomal recessive, 256030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 MYH7 Ana Topf reviewed gene: MYH7: Rating: GREEN; Mode of pathogenicity: ; Publications: 15322983; Phenotypes: Laing distal myopathy, 160500; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 MYH14 Ana Topf reviewed gene: MYH14: Rating: GREEN; Mode of pathogenicity: ; Publications: 21480433; Phenotypes: Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 MTM1 Ana Topf edited their review of gene: MTM1: Changed publications: 9305655, 9285787; Changed phenotypes: Myotubular myopathy, X-linked, 310400; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 MATR3 Ana Topf reviewed gene: MATR3: Rating: GREEN; Mode of pathogenicity: ; Publications: 19344878; Phenotypes: Amyotrophic lateral sclerosis 21, 606070; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 LPIN1 Ana Topf reviewed gene: LPIN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 18817903; Phenotypes: Myoglobinuria, acute recurrent, autosomal recessive, 268200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 LAMP2 Ana Topf reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 10972294; Phenotypes: Danon disease, 300257; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 LAMA2 Ana Topf reviewed gene: LAMA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 7550355, 12552556; Phenotypes: Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 GYG1 Ana Topf reviewed gene: GYG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20357282; Phenotypes: Glycogen storage disease XV, 613507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 GFPT1 Ana Topf reviewed gene: GFPT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21310273; Phenotypes: Myasthenia, congenital, 12, with tubular aggregates, 610542; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 GBE1 Ana Topf reviewed gene: GBE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 8613547; Phenotypes: Glycogen storage disease IV, 232500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 ETFDH Ana Topf reviewed gene: ETFDH: Rating: GREEN; Mode of pathogenicity: ; Publications: 17412732; Phenotypes: Glutaric acidemia IIC, 231680, Glutaric acidemia IIA, 231680, Glutaric acidemia IIB, 231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 DPM3 Ana Topf reviewed gene: DPM3: Rating: GREEN; Mode of pathogenicity: ; Publications: 19576565, 28803818; Phenotypes: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 DOK7 Ana Topf reviewed gene: DOK7: Rating: GREEN; Mode of pathogenicity: ; Publications: 19261599; Phenotypes: Fetal akinesia deformation sequence 1, 208150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 DNM2 Ana Topf reviewed gene: DNM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 17932957; Phenotypes: Centronuclear myopathy 1, 160150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 CRYAB Ana Topf reviewed gene: CRYAB: Rating: GREEN; Mode of pathogenicity: ; Publications: 11577372; Phenotypes: Cataract 16, multiple types, 613763; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 CPT2 Ana Topf reviewed gene: CPT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 1528846, 8651281; Phenotypes: CPT II deficiency, infantile, 600649; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 COLQ Ana Topf reviewed gene: COLQ: Rating: GREEN; Mode of pathogenicity: ; Publications: 9689136; Phenotypes: Myasthenic syndrome, congenital, 5, 603034; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 COL12A1 Ana Topf reviewed gene: COL12A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24334604; Phenotypes: Ullrich congenital muscular dystrophy 2, 616470; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 CLCN1 Ana Topf reviewed gene: CLCN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 7981750, 8112288; Phenotypes: Myotonia congenita, dominant, 160800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 CHRND Ana Topf reviewed gene: CHRND: Rating: GREEN; Mode of pathogenicity: ; Publications: 11782989; Phenotypes: Myasthenic syndrome, congenital, 3A, slow-channel, 616321; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 BAG3 Ana Topf reviewed gene: BAG3: Rating: GREEN; Mode of pathogenicity: ; Publications: 19085932, 20605452; Phenotypes: Myopathy, myofibrillar, 6, 612954; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 ATP2A1 Ana Topf reviewed gene: ATP2A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 8841193, 9367679; Phenotypes: Brody myopathy, 601003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 AGL Ana Topf reviewed gene: AGL: Rating: GREEN; Mode of pathogenicity: ; Publications: 8755644, 8990006; Phenotypes: Glycogen storage disease IIIb, 232400, Glycogen storage disease IIIc, 232400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 ACTA1 Ana Topf reviewed gene: ACTA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25938801; Phenotypes: Myopathy, scapulohumeroperoneal, 616852; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 ACADVL Ana Topf reviewed gene: ACADVL: Rating: GREEN; Mode of pathogenicity: ; Publications: 7668252, 27246109; Phenotypes: VLCAD deficiency, 201475; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 VMA21 Louise Daugherty gene: VMA21 was added
gene: VMA21 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: VMA21 was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 TPM3 Louise Daugherty gene: TPM3 was added
gene: TPM3 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: TPM3 was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 TPM2 Louise Daugherty gene: TPM2 was added
gene: TPM2 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: TPM2 was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 TNNT3 Louise Daugherty gene: TNNT3 was added
gene: TNNT3 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: TNNT3 was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 SELENON Louise Daugherty gene: SELENON was added
gene: SELENON was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: SELENON was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 SCN4A Louise Daugherty gene: SCN4A was added
gene: SCN4A was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: SCN4A was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 RYR1 Louise Daugherty gene: RYR1 was added
gene: RYR1 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: RYR1 was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 RAPSN Louise Daugherty gene: RAPSN was added
gene: RAPSN was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: RAPSN was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 PYGM Louise Daugherty gene: PYGM was added
gene: PYGM was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: PYGM was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 POLG Louise Daugherty gene: POLG was added
gene: POLG was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: POLG was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 PHKA1 Louise Daugherty gene: PHKA1 was added
gene: PHKA1 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: PHKA1 was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 PGK1 Louise Daugherty gene: PGK1 was added
gene: PGK1 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: PGK1 was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 PFKM Louise Daugherty gene: PFKM was added
gene: PFKM was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: PFKM was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 NEB Louise Daugherty gene: NEB was added
gene: NEB was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: NEB was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 MYH7 Louise Daugherty gene: MYH7 was added
gene: MYH7 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: MYH7 was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 MYH14 Louise Daugherty gene: MYH14 was added
gene: MYH14 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: MYH14 was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 MTM1 Louise Daugherty Source Expert Review was added to MTM1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 MATR3 Louise Daugherty gene: MATR3 was added
gene: MATR3 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: MATR3 was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 LPIN1 Louise Daugherty gene: LPIN1 was added
gene: LPIN1 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: LPIN1 was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 LAMP2 Louise Daugherty gene: LAMP2 was added
gene: LAMP2 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: LAMP2 was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 LAMA2 Louise Daugherty gene: LAMA2 was added
gene: LAMA2 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: LAMA2 was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 GYG1 Louise Daugherty gene: GYG1 was added
gene: GYG1 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: GYG1 was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 GFPT1 Louise Daugherty gene: GFPT1 was added
gene: GFPT1 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: GFPT1 was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 GBE1 Louise Daugherty gene: GBE1 was added
gene: GBE1 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: GBE1 was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 ETFDH Louise Daugherty gene: ETFDH was added
gene: ETFDH was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: ETFDH was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 DPM3 Louise Daugherty gene: DPM3 was added
gene: DPM3 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: DPM3 was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 DOK7 Louise Daugherty gene: DOK7 was added
gene: DOK7 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: DOK7 was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 DNM2 Louise Daugherty gene: DNM2 was added
gene: DNM2 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: DNM2 was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 CRYAB Louise Daugherty gene: CRYAB was added
gene: CRYAB was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: CRYAB was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 CPT2 Louise Daugherty gene: CPT2 was added
gene: CPT2 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: CPT2 was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 COLQ Louise Daugherty gene: COLQ was added
gene: COLQ was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: COLQ was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 COL12A1 Louise Daugherty gene: COL12A1 was added
gene: COL12A1 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: COL12A1 was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 CLCN1 Louise Daugherty gene: CLCN1 was added
gene: CLCN1 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: CLCN1 was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 CHRND Louise Daugherty gene: CHRND was added
gene: CHRND was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: CHRND was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 BAG3 Louise Daugherty gene: BAG3 was added
gene: BAG3 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: BAG3 was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 ATP2A1 Louise Daugherty gene: ATP2A1 was added
gene: ATP2A1 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: ATP2A1 was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 AGL Louise Daugherty gene: AGL was added
gene: AGL was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: AGL was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 ACTA1 Louise Daugherty gene: ACTA1 was added
gene: ACTA1 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: ACTA1 was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 ACADVL Louise Daugherty gene: ACADVL was added
gene: ACADVL was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: ACADVL was set to
Structural eye disease v0.13 ISPD Ivone Leong commented on gene: ISPD
Structural eye disease v0.13 ISPD Ivone Leong Tag new-gene-name tag was added to gene: ISPD.
Structural eye disease v0.13 FAT1 Ivone Leong gene: FAT1 was added
gene: FAT1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: FAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAT1 were set to 12724416; 30862798
Structural eye disease v0.13 SMAD4 Ivone Leong gene: SMAD4 was added
gene: SMAD4 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMAD4 were set to 11977156; 20735985
Phenotypes for gene: SMAD4 were set to Myhre syndrome, 139210
Structural eye disease v0.13 PRR12 Ivone Leong gene: PRR12 was added
gene: PRR12 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: PRR12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRR12 were set to 29556724
Structural eye disease v0.13 POMT2 Ivone Leong gene: POMT2 was added
gene: POMT2 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: POMT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMT2 were set to 28815891; 15894594
Phenotypes for gene: POMT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2
Structural eye disease v0.13 POMT1 Ivone Leong gene: POMT1 was added
gene: POMT1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: POMT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMT1 were set to 15037715; 12369018
Phenotypes for gene: POMT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670
Structural eye disease v0.13 OLFM2 Ivone Leong gene: OLFM2 was added
gene: OLFM2 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: OLFM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: OLFM2 were set to 27844144
Structural eye disease v0.13 MITF Ivone Leong gene: MITF was added
gene: MITF was added to Structural eye disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: MITF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MITF were set to 27889061
Phenotypes for gene: MITF were set to COMMAD syndrome, 617306
Structural eye disease v0.13 KIAA1109 Ivone Leong gene: KIAA1109 was added
gene: KIAA1109 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: KIAA1109 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA1109 were set to 617822; 29290337
Phenotypes for gene: KIAA1109 were set to Alkuraya-Kucinskas syndrome
Structural eye disease v0.13 ISPD Ivone Leong gene: ISPD was added
gene: ISPD was added to Structural eye disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: ISPD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ISPD were set to 22522421
Phenotypes for gene: ISPD were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643
Structural eye disease v0.13 IPO13 Ivone Leong gene: IPO13 was added
gene: IPO13 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: IPO13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IPO13 were set to 29700284
Structural eye disease v0.13 GLI2 Ivone Leong gene: GLI2 was added
gene: GLI2 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: GLI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GLI2 were set to 17096318; 21204792
Phenotypes for gene: GLI2 were set to Holoprosencephaly 9, 610829
Structural eye disease v0.13 FKRP Ivone Leong gene: FKRP was added
gene: FKRP was added to Structural eye disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FKRP were set to 20675713; 19955119; 20236121; 15121789
Phenotypes for gene: FKRP were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5
Structural eye disease v0.13 EFTUD2 Ivone Leong gene: EFTUD2 was added
gene: EFTUD2 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: EFTUD2 was set to mONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EFTUD2 were set to 26118977
Phenotypes for gene: EFTUD2 were set to Mandibulofacial dysostosis, Guion-Almeida type, 610536
Structural eye disease v0.13 CPAMD8 Ivone Leong gene: CPAMD8 was added
gene: CPAMD8 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: CPAMD8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPAMD8 were set to 27839872
Structural eye disease v0.13 ZIC2 Ivone Leong gene: ZIC2 was added
gene: ZIC2 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: ZIC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZIC2 were set to 21976454
Phenotypes for gene: ZIC2 were set to Holoprosencephaly 5, 609637
Structural eye disease v0.13 ZEB2 Ivone Leong gene: ZEB2 was added
gene: ZEB2 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: ZEB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZEB2 were set to 16053902
Phenotypes for gene: ZEB2 were set to Mowat-Wilson syndrome (Hirschsprung disease with bilateral iris and retinal coloboma and high myopia), 235730
Structural eye disease v0.13 ZEB1 Ivone Leong gene: ZEB1 was added
gene: ZEB1 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: ZEB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ZEB1 were set to Corneal dystrophy, Fuchs endothelial, 6, 613270; Corneal dystrophy, posterior polymorphous, 3, 609141
Structural eye disease v0.13 WRN Ivone Leong gene: WRN was added
gene: WRN was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: WRN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WRN were set to Werner syndrome, 277700
Structural eye disease v0.13 VSX1 Ivone Leong gene: VSX1 was added
gene: VSX1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: VSX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VSX1 were set to 15051220
Phenotypes for gene: VSX1 were set to Keratoconus 1, 148300; Corneal dystrophy, posterior polymorphous, 1, 122000; Craniofacial anomalies and anterior segment dysgenesis syndrome, 614195
Structural eye disease v0.13 VIM Ivone Leong gene: VIM was added
gene: VIM was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: VIM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: VIM were set to Cataract 30, pulverulent, 116300
Structural eye disease v0.13 UBIAD1 Ivone Leong gene: UBIAD1 was added
gene: UBIAD1 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: UBIAD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: UBIAD1 were set to Corneal dystrophy, Schnyder type, 121800
Structural eye disease v0.13 TMX3 Ivone Leong gene: TMX3 was added
gene: TMX3 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: TMX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TMX3 were set to 20485507
Phenotypes for gene: TMX3 were set to Microphthalmia, coloboma, micrognathia, diaphragmatic hernia; None
Structural eye disease v0.13 TGFBI Ivone Leong gene: TGFBI was added
gene: TGFBI was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: TGFBI was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFBI were set to 607541; Corneal dystrophy, lattice type IIIA; 608470; Corneal dystrophy, lattice type I; 122200; Corneal dystrophy, Reis-Bucklers type; 121900; Corneal dystrophy, Groenouw type I; Corneal dystrophy, epithelial basement membrane; 608471; Corneal dystrophy, Avellino type; 121820; Corneal dystrophy, Thiel-Behnke type; 602082
Structural eye disease v0.13 TDRD7 Ivone Leong gene: TDRD7 was added
gene: TDRD7 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: TDRD7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TDRD7 were set to Cataract 36, 613887
Structural eye disease v0.13 TCOF1 Ivone Leong gene: TCOF1 was added
gene: TCOF1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: TCOF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TCOF1 were set to 10888597; 8741923
Phenotypes for gene: TCOF1 were set to Treacher Collins syndrome 1 (eyelid coloboma), 154500
Structural eye disease v0.13 TBX22 Ivone Leong gene: TBX22 was added
gene: TBX22 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: TBX22 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: TBX22 were set to 22784330
Phenotypes for gene: TBX22 were set to ?Abruzzo-Erickson syndrome, 302905
Structural eye disease v0.13 TBC1D32 Ivone Leong gene: TBC1D32 was added
gene: TBC1D32 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: TBC1D32 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBC1D32 were set to 24285566
Phenotypes for gene: TBC1D32 were set to Orofaciodigital syndrome 9, 258865
Structural eye disease v0.13 TACSTD2 Ivone Leong gene: TACSTD2 was added
gene: TACSTD2 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: TACSTD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TACSTD2 were set to Corneal dystrophy, gelatinous drop-like, 204870
Structural eye disease v0.13 SRD5A3 Ivone Leong gene: SRD5A3 was added
gene: SRD5A3 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: SRD5A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SRD5A3 were set to 20637498; 20700148; 26219881
Phenotypes for gene: SRD5A3 were set to Kahrizi Syndrome (mental retardation, cataract, coloboma, kyphosis), 612713
Structural eye disease v0.13 SMCHD1 Ivone Leong gene: SMCHD1 was added
gene: SMCHD1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: SMCHD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMCHD1 were set to 28067911; 28067909
Phenotypes for gene: SMCHD1 were set to ARHINIA, CHOANAL ATRESIA, AND MICROPHTHALMIA, 603457
Structural eye disease v0.13 SLC4A4 Ivone Leong gene: SLC4A4 was added
gene: SLC4A4 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: SLC4A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC4A4 were set to 10545938; 11274232
Phenotypes for gene: SLC4A4 were set to Renal tubular acidosis, proximal, with ocular abnormalities, 604278
Structural eye disease v0.13 SLC4A11 Ivone Leong gene: SLC4A11 was added
gene: SLC4A11 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: SLC4A11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC4A11 were set to Corneal endothelial dystrophy and perceptive deafness, 217400; Corneal dystrophy, Fuchs endothelial, 4, 613268; Corneal endothelial dystrophy 2, autosomal recessive, 217700
Structural eye disease v0.13 SLC38A8 Ivone Leong gene: SLC38A8 was added
gene: SLC38A8 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: SLC38A8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC38A8 were set to Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218
Structural eye disease v0.13 SLC33A1 Ivone Leong gene: SLC33A1 was added
gene: SLC33A1 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: SLC33A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC33A1 were set to Congenital cataracts, hearing loss, and neurodegeneration, 614482
Structural eye disease v0.13 SLC2A1 Ivone Leong gene: SLC2A1 was added
gene: SLC2A1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: SLC2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC2A1 were set to STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, 608885
Structural eye disease v0.13 SLC16A12 Ivone Leong gene: SLC16A12 was added
gene: SLC16A12 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: SLC16A12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC16A12 were set to Cataract, juvenile, with microcornea and glucosuria, 612018
Structural eye disease v0.13 SIL1 Ivone Leong gene: SIL1 was added
gene: SIL1 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: SIL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SIL1 were set to Marinesco-Sjogren syndrome, 248800
Structural eye disease v0.13 SH3PXD2B Ivone Leong gene: SH3PXD2B was added
gene: SH3PXD2B was added to Structural eye disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: SH3PXD2B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SH3PXD2B were set to 29100834; 20137777
Phenotypes for gene: SH3PXD2B were set to Frank-ter Haar syndrome, 249420
Structural eye disease v0.13 SEMA3E Ivone Leong gene: SEMA3E was added
gene: SEMA3E was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: SEMA3E was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SEMA3E were set to CHARGE, 214800
Structural eye disease v0.13 SEC23A Ivone Leong gene: SEC23A was added
gene: SEC23A was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: SEC23A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SEC23A were set to Craniolenticulosutural dysplasia, 607812
Structural eye disease v0.13 SCLT1 Ivone Leong gene: SCLT1 was added
gene: SCLT1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: SCLT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCLT1 were set to 29450879; 24285566
Phenotypes for gene: SCLT1 were set to Orofaciodigital syndrome IX (a severe ciliopathy phenotype featuring midline cleft, microcephaly, and colobomatous microphthalmia/anophthalmia, one case only (Adly et al 2014), variant was classified as unknown significance by OMIM); None
Structural eye disease v0.13 SC5D Ivone Leong gene: SC5D was added
gene: SC5D was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: SC5D was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SC5D were set to LATHOSTEROLOSIS, 607330
Structural eye disease v0.13 SALL1 Ivone Leong gene: SALL1 was added
gene: SALL1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: SALL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SALL1 were set to 16088922; 17221874; 9973281
Phenotypes for gene: SALL1 were set to Townes-Brocks branchiootorenal-like syndrome, 107480
Structural eye disease v0.13 PXDN Ivone Leong gene: PXDN was added
gene: PXDN was added to Structural eye disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: PXDN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PXDN were set to 29450879; 21907015; 24939590
Phenotypes for gene: PXDN were set to Corneal opacification and other ocular anomalies, 269400
Structural eye disease v0.13 PTCH1 Ivone Leong gene: PTCH1 was added
gene: PTCH1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PTCH1 were set to 17001668; 16024850
Phenotypes for gene: PTCH1 were set to Holoprosencephaly 7 (can include microphthalmia), 610828
Structural eye disease v0.13 PRDM5 Ivone Leong gene: PRDM5 was added
gene: PRDM5 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: PRDM5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRDM5 were set to Brittle cornea syndrome 2, 614170
Structural eye disease v0.13 PQBP1 Ivone Leong gene: PQBP1 was added
gene: PQBP1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: PQBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PQBP1 were set to 17033686
Phenotypes for gene: PQBP1 were set to Renpenning syndrome (can include microphthalmia/coloboma), 309500
Structural eye disease v0.13 POLR1D Ivone Leong gene: POLR1D was added
gene: POLR1D was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: POLR1D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: POLR1D were set to Treacher-Collins Syndrome 2, 613717
Structural eye disease v0.13 POLR1C Ivone Leong gene: POLR1C was added
gene: POLR1C was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: POLR1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLR1C were set to Treacher-Collins Syndrome, 248390
Structural eye disease v0.13 PIKFYVE Ivone Leong gene: PIKFYVE was added
gene: PIKFYVE was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: PIKFYVE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PIKFYVE were set to Corneal fleck dystrophy, 121850
Structural eye disease v0.13 PEX6 Ivone Leong gene: PEX6 was added
gene: PEX6 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: PEX6 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PEX6 were set to Peroxisome biogenesis disorder 4B, 614863
Structural eye disease v0.13 PEX5 Ivone Leong gene: PEX5 was added
gene: PEX5 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: PEX5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX5 were set to Peroxisome biogenesis disorder 2B, 202370
Structural eye disease v0.13 PEX3 Ivone Leong gene: PEX3 was added
gene: PEX3 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: PEX3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX3 were set to Peroxisome biogenesis disorder 10A (Zellweger), 603164
Structural eye disease v0.13 PEX26 Ivone Leong gene: PEX26 was added
gene: PEX26 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: PEX26 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX26 were set to Peroxisome biogenesis disorder 7B, 614873
Structural eye disease v0.13 PEX2 Ivone Leong gene: PEX2 was added
gene: PEX2 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: PEX2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX2 were set to Peroxisome biogenesis disorder 5A (Zellweger), 614866; Peroxisome biogenesis disorder 5B, 614867
Structural eye disease v0.13 PEX19 Ivone Leong gene: PEX19 was added
gene: PEX19 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: PEX19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX19 were set to Peroxisome biogenesis disorder 12A (Zellweger), 614886
Structural eye disease v0.13 PEX16 Ivone Leong gene: PEX16 was added
gene: PEX16 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX16 were set to Peroxisome biogenesis disorder 8B, 614877
Structural eye disease v0.13 PEX14 Ivone Leong gene: PEX14 was added
gene: PEX14 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: PEX14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX14 were set to Peroxisome biogenesis disorder 13A (Zellweger), 614887
Structural eye disease v0.13 PEX13 Ivone Leong gene: PEX13 was added
gene: PEX13 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: PEX13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX13 were set to Peroxisome biogenesis disorder 11B, 614885
Structural eye disease v0.13 PEX12 Ivone Leong gene: PEX12 was added
gene: PEX12 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: PEX12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX12 were set to Peroxisome biogenesis disorder 3B, 266510
Structural eye disease v0.13 PEX11B Ivone Leong gene: PEX11B was added
gene: PEX11B was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: PEX11B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX11B were set to Peroxisome biogenesis disorder 14B, 614920
Structural eye disease v0.13 PEX10 Ivone Leong gene: PEX10 was added
gene: PEX10 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: PEX10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX10 were set to Peroxisome biogenesis disorder 6B, 614871
Structural eye disease v0.13 PDE6D Ivone Leong gene: PDE6D was added
gene: PDE6D was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: PDE6D was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDE6D were set to 24166846
Phenotypes for gene: PDE6D were set to ?Joubert syndrome 22 (microphthalmia/optic nerve coloboma, intrauterine growth retardation, facial dysmorphism, postaxial polydactyly of feet, syndactyly, polydactyly, renal hypoplasia, extinguished electroretinogram), 615665
Structural eye disease v0.13 PAX3 Ivone Leong gene: PAX3 was added
gene: PAX3 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: PAX3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PAX3 were set to Waardenburg syndrome, type 1, 193500; Waardenburg syndrome, type 3, 148820
Structural eye disease v0.13 P3H2 Ivone Leong gene: P3H2 was added
gene: P3H2 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: P3H2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: P3H2 were set to MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION, 614292
Structural eye disease v0.13 OCRL Ivone Leong gene: OCRL was added
gene: OCRL was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: OCRL were set to 19168822
Phenotypes for gene: OCRL were set to Lowe syndrome, 309000
Structural eye disease v0.13 NOTCH2 Ivone Leong gene: NOTCH2 was added
gene: NOTCH2 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: NOTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NOTCH2 were set to 22173065
Phenotypes for gene: NOTCH2 were set to Hajdu-Cheney syndrome, 102500; Alagille syndrome 2, 610205
Structural eye disease v0.13 NHS Ivone Leong gene: NHS was added
gene: NHS was added to Structural eye disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: NHS was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: NHS were set to 28922055; 17417607; 23566852
Phenotypes for gene: NHS were set to Nance-Horan syndrome, 302350; Cataract 40, X-linked, 302200
Structural eye disease v0.13 NF2 Ivone Leong gene: NF2 was added
gene: NF2 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: NF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NF2 were set to Neurofibromatosis, Type II, 101000
Structural eye disease v0.13 MYH9 Ivone Leong gene: MYH9 was added
gene: MYH9 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: MYH9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYH9 were set to Epstein Syndrome, 153650; Fechtner syndrome, 153640
Structural eye disease v0.13 MIR184 Ivone Leong gene: MIR184 was added
gene: MIR184 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: MIR184 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MIR184 were set to EDICT syndrome, 614303
Structural eye disease v0.13 MIP Ivone Leong gene: MIP was added
gene: MIP was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: MIP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MIP were set to Cataract 15, multiple types, 615274
Structural eye disease v0.13 MAN2B1 Ivone Leong gene: MAN2B1 was added
gene: MAN2B1 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MAN2B1 were set to Mannosidosis, alpha-, types I and II, 248500
Structural eye disease v0.13 LMX1B Ivone Leong gene: LMX1B was added
gene: LMX1B was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: LMX1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LMX1B were set to Nail-patella syndrome, 161200
Structural eye disease v0.13 LIM2 Ivone Leong gene: LIM2 was added
gene: LIM2 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: LIM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIM2 were set to Cataract 19, 615277
Structural eye disease v0.13 LCAT Ivone Leong gene: LCAT was added
gene: LCAT was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: LCAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LCAT were set to Norum disease, 245900; Fish-eye disease, 136120
Structural eye disease v0.13 LAMB2 Ivone Leong gene: LAMB2 was added
gene: LAMB2 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: LAMB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAMB2 were set to 27130041; 30778388; 28188379; 30120985; 28683731; 29450879
Phenotypes for gene: LAMB2 were set to Nephrotic syndrome, type 5, with or without ocular abnormalities, 614199; Pierson syndrome, 609049
Structural eye disease v0.13 KRT3 Ivone Leong gene: KRT3 was added
gene: KRT3 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: KRT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KRT3 were set to Meesmann corneal dystrophy, 122100
Structural eye disease v0.13 KRT12 Ivone Leong gene: KRT12 was added
gene: KRT12 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: KRT12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KRT12 were set to Meesmann corneal dystrophy, 122100
Structural eye disease v0.13 KMT2D Ivone Leong gene: KMT2D was added
gene: KMT2D was added to Structural eye disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KMT2D were set to Kabuki syndrome 1 (can include coloboma), 147920
Structural eye disease v0.13 KERA Ivone Leong gene: KERA was added
gene: KERA was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: KERA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KERA were set to Cornea plana congenita, recessive, 217300
Structural eye disease v0.13 KAT6B Ivone Leong gene: KAT6B was added
gene: KAT6B was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: KAT6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KAT6B were set to SBBYSS syndrome (blepharophimosis), 603736
Structural eye disease v0.13 JAM3 Ivone Leong gene: JAM3 was added
gene: JAM3 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: JAM3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: JAM3 were set to Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730
Structural eye disease v0.13 ITPR1 Ivone Leong gene: ITPR1 was added
gene: ITPR1 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: ITPR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ITPR1 were set to Gillespie syndrome, 206700
Structural eye disease v0.13 ITPA Ivone Leong gene: ITPA was added
gene: ITPA was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: ITPA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITPA were set to 26224535
Phenotypes for gene: ITPA were set to Warburg Micro syndrome and Martsolf syndrome with variable cardiac manifestation; None
Structural eye disease v0.13 HSF4 Ivone Leong gene: HSF4 was added
gene: HSF4 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: HSF4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HSF4 were set to Cataract 5, multiple types, 116800
Structural eye disease v0.13 GSN Ivone Leong gene: GSN was added
gene: GSN was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: GSN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GSN were set to Amyloidosis, Finnish type, 105120
Structural eye disease v0.13 GNPTG Ivone Leong gene: GNPTG was added
gene: GNPTG was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: GNPTG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNPTG were set to Mucolipidosis III gamma, Retinitis Pigmentosa and skeletal abnormalities, 252605
Structural eye disease v0.13 GJA8 Ivone Leong gene: GJA8 was added
gene: GJA8 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: GJA8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GJA8 were set to Cataract 1, multiple types, 116200
Structural eye disease v0.13 GJA3 Ivone Leong gene: GJA3 was added
gene: GJA3 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: GJA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GJA3 were set to Cataract 14, multiple types, 601885
Structural eye disease v0.13 GFER Ivone Leong gene: GFER was added
gene: GFER was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: GFER was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GFER were set to Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076
Structural eye disease v0.13 GCNT2 Ivone Leong gene: GCNT2 was added
gene: GCNT2 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: GCNT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GCNT2 were set to Cataract 13 with adult i phenotype, 116700
Structural eye disease v0.13 GALT Ivone Leong gene: GALT was added
gene: GALT was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: GALT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALT were set to Galactosemia, 230400
Structural eye disease v0.13 GALK1 Ivone Leong gene: GALK1 was added
gene: GALK1 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: GALK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALK1 were set to Galactokinase deficiency with cataracts, 230200
Structural eye disease v0.13 FZD5 Ivone Leong gene: FZD5 was added
gene: FZD5 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: FZD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FZD5 were set to 26908622
Phenotypes for gene: FZD5 were set to Coloboma, None
Structural eye disease v0.13 FYCO1 Ivone Leong gene: FYCO1 was added
gene: FYCO1 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: FYCO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FYCO1 were set to Cataract 18, autosomal recessive, 610019
Structural eye disease v0.13 FTL Ivone Leong gene: FTL was added
gene: FTL was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: FTL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FTL were set to Hyperferritinemia-cataract syndrome, 600886
Structural eye disease v0.13 FOXL2 Ivone Leong gene: FOXL2 was added
gene: FOXL2 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: FOXL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FOXL2 were set to Blepharophimosis, epicanthus inversus, and ptosis, 110100
Structural eye disease v0.13 FNBP4 Ivone Leong gene: FNBP4 was added
gene: FNBP4 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: FNBP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FNBP4 were set to Microphthalmia with Limb anomalies (Classified as variant of unknown significance on OMIM), 206920
Structural eye disease v0.13 FBN1 Ivone Leong gene: FBN1 was added
gene: FBN1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FBN1 were set to 1301946, 8136837
Phenotypes for gene: FBN1 were set to Marfan syndrome, 154700; Weill-Marchesani syndrome 2, dominant, 608328; MASS syndrome, 604308; Marfan lipodystrophy syndrome, 616914; Ectopia lentis, familial, 129600
Structural eye disease v0.13 FAM126A Ivone Leong gene: FAM126A was added
gene: FAM126A was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: FAM126A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM126A were set to LEUKODYSTROPHY, HYPOMYELINATING, 5 (includes congenital cataract), 610532
Structural eye disease v0.13 FAM111A Ivone Leong gene: FAM111A was added
gene: FAM111A was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: FAM111A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FAM111A were set to Gracile bone dysplasia; 127000; 602361; Kenny-Caffey syndrome, type 2
Structural eye disease v0.13 FADD Ivone Leong gene: FADD was added
gene: FADD was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: FADD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FADD were set to 17656375
Phenotypes for gene: FADD were set to None; Iris coloboma, retinal coloboma
Structural eye disease v0.13 EYA1 Ivone Leong gene: EYA1 was added
gene: EYA1 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: EYA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EYA1 were set to Branchiootic syndrome 1, 602588; Anterior segment anomalies with or without cataract, 113650
Structural eye disease v0.13 EPHA2 Ivone Leong gene: EPHA2 was added
gene: EPHA2 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: EPHA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EPHA2 were set to Cataract 6, multiple types, 116600
Structural eye disease v0.13 EPG5 Ivone Leong gene: EPG5 was added
gene: EPG5 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EPG5 were set to Vici syndrome, 242840
Structural eye disease v0.13 DPYD Ivone Leong gene: DPYD was added
gene: DPYD was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: DPYD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DPYD were set to Dihydropyrimidine dehydrogenase deficiency , 274270
Structural eye disease v0.13 DHX38 Ivone Leong gene: DHX38 was added
gene: DHX38 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: DHX38 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHX38 were set to Retinitis Pigmentosa and Macular Coloboma, 618220
Structural eye disease v0.13 DHCR7 Ivone Leong gene: DHCR7 was added
gene: DHCR7 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome, 270400
Structural eye disease v0.13 DCN Ivone Leong gene: DCN was added
gene: DCN was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: DCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DCN were set to Corneal dystrophy, congenital stromal, 610048
Structural eye disease v0.13 CYP51A1 Ivone Leong gene: CYP51A1 was added
gene: CYP51A1 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: CYP51A1 was set to
Structural eye disease v0.13 CTDP1 Ivone Leong gene: CTDP1 was added
gene: CTDP1 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: CTDP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTDP1 were set to Congenital cataracts, facial dysmorphism, and neuropathy, 604168
Structural eye disease v0.13 CRYGS Ivone Leong gene: CRYGS was added
gene: CRYGS was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: CRYGS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CRYGS were set to Cataract 20, multiple types, 116100
Structural eye disease v0.13 CRYGD Ivone Leong gene: CRYGD was added
gene: CRYGD was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: CRYGD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CRYGD were set to Cataract 4, Multiple Types, 115700
Structural eye disease v0.13 CRYGC Ivone Leong gene: CRYGC was added
gene: CRYGC was added to Structural eye disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: CRYGC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CRYGC were set to 29386872; 24281366
Phenotypes for gene: CRYGC were set to Cataract 2, multiple types (often with microcornea), 604307
Structural eye disease v0.13 CRYGB Ivone Leong gene: CRYGB was added
gene: CRYGB was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: CRYGB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CRYGB were set to Cataract 39, multiple types, autosomal dominant, 615188
Structural eye disease v0.13 CRYBB3 Ivone Leong gene: CRYBB3 was added
gene: CRYBB3 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: CRYBB3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CRYBB3 were set to Cataract 22, autosomal recessive, 609741
Structural eye disease v0.13 CRYBB2 Ivone Leong gene: CRYBB2 was added
gene: CRYBB2 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: CRYBB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CRYBB2 were set to 29386872
Phenotypes for gene: CRYBB2 were set to Cataract 3, multiple types, 601547
Structural eye disease v0.13 CRYBB1 Ivone Leong gene: CRYBB1 was added
gene: CRYBB1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: CRYBB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CRYBB1 were set to 29386872
Phenotypes for gene: CRYBB1 were set to Cataract 17, multiple types, 611544
Structural eye disease v0.13 CRYBA4 Ivone Leong gene: CRYBA4 was added
gene: CRYBA4 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: CRYBA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CRYBA4 were set to 16960806; 20577656
Phenotypes for gene: CRYBA4 were set to Cataract 23 (and microphthalmia in 1 case), 610425
Structural eye disease v0.13 CRYBA1 Ivone Leong gene: CRYBA1 was added
gene: CRYBA1 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: CRYBA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CRYBA1 were set to 26303524
Phenotypes for gene: CRYBA1 were set to Cataract 10, multiple types, 600881
Structural eye disease v0.13 CRYAB Ivone Leong gene: CRYAB was added
gene: CRYAB was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: CRYAB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CRYAB were set to CATARACT 16, MULTIPLE TYPES, 613763
Structural eye disease v0.13 CRYAA Ivone Leong gene: CRYAA was added
gene: CRYAA was added to Structural eye disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: CRYAA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CRYAA were set to 30340470; 17296897; 18302245
Phenotypes for gene: CRYAA were set to Cataract 9, multiple types (some patients also have microphthalmia and/or microcornea), 604219
Structural eye disease v0.13 CRIM1 Ivone Leong gene: CRIM1 was added
gene: CRIM1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: CRIM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CRIM1 were set to 25561690; 26681494
Phenotypes for gene: CRIM1 were set to Macrophthalmia, Colobomatous, with microcornea, 602499
Structural eye disease v0.13 COL8A2 Ivone Leong gene: COL8A2 was added
gene: COL8A2 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: COL8A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL8A2 were set to Corneal dystrophy, Fuchs endothelial, 1, 136800; Corneal dystrophy, posterior polymorphous 2, 609140
Structural eye disease v0.13 COL18A1 Ivone Leong gene: COL18A1 was added
gene: COL18A1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: COL18A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COL18A1 were set to 17546652; 22399687
Phenotypes for gene: COL18A1 were set to Knobloch syndrome, type 1, 267750
Structural eye disease v0.13 CHST6 Ivone Leong gene: CHST6 was added
gene: CHST6 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: CHST6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHST6 were set to Macular corneal dystrophy, 217800
Structural eye disease v0.13 CHRDL1 Ivone Leong gene: CHRDL1 was added
gene: CHRDL1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: CHRDL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: CHRDL1 were set to 22284829
Phenotypes for gene: CHRDL1 were set to Megalocornea 1, X-linked, 309300
Structural eye disease v0.13 CHMP4B Ivone Leong gene: CHMP4B was added
gene: CHMP4B was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: CHMP4B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHMP4B were set to 17701905
Phenotypes for gene: CHMP4B were set to Cataract 31, multiple types, 605387
Structural eye disease v0.13 CBS Ivone Leong gene: CBS was added
gene: CBS was added to Structural eye disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CBS were set to 24169224; 11774777; 21626167; 7611293
Phenotypes for gene: CBS were set to Homocystinuria, B6-responsive and nonresponsive types (includes ectopia lentis), 236200
Structural eye disease v0.13 BFSP2 Ivone Leong gene: BFSP2 was added
gene: BFSP2 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: BFSP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BFSP2 were set to Cataract 12, multiple types, 611597
Structural eye disease v0.13 BFSP1 Ivone Leong gene: BFSP1 was added
gene: BFSP1 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: BFSP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: BFSP1 were set to Cataract 33, 611391
Structural eye disease v0.13 ALDH18A1 Ivone Leong gene: ALDH18A1 was added
gene: ALDH18A1 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: ALDH18A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ALDH18A1 were set to 21739576
Phenotypes for gene: ALDH18A1 were set to Cutis laxa, autosomal recessive, type IIIA, 219150
Structural eye disease v0.13 AGPS Ivone Leong gene: AGPS was added
gene: AGPS was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: AGPS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGPS were set to Rhizomelic chondrodysplasia punctata, type 3, 600121
Structural eye disease v0.13 AGK Ivone Leong gene: AGK was added
gene: AGK was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: AGK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGK were set to Cataract 38, autosomal recessive, 614691; Sengers syndrome, 212350
Structural eye disease v0.13 AGBL1 Ivone Leong gene: AGBL1 was added
gene: AGBL1 was added to Structural eye disease. Sources: NHS GMS
Mode of inheritance for gene: AGBL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: AGBL1 were set to Corneal dystrophy, Fuchs endothelial, 8, 615523
Structural eye disease v0.13 ADAMTSL4 Ivone Leong gene: ADAMTSL4 was added
gene: ADAMTSL4 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: ADAMTSL4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTSL4 were set to 20141359; 25975359; 20702823
Phenotypes for gene: ADAMTSL4 were set to Ectopia lentis et pupillae, 225200; Ectopia lentis, isolated, autosomal recessive, 225100
Structural eye disease v0.13 ADAMTS18 Ivone Leong gene: ADAMTS18 was added
gene: ADAMTS18 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: ADAMTS18 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS18 were set to 23818446
Phenotypes for gene: ADAMTS18 were set to Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458
Mitochondrial disorders v1.191 PUS1 Sarah Leigh Classified gene: PUS1 as Green List (high evidence)
Mitochondrial disorders v1.191 PUS1 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 6 variants reported in 5 unrelated cases.
Mitochondrial disorders v1.191 PUS1 Sarah Leigh Gene: pus1 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.190 PUS1 Sarah Leigh Mode of inheritance for gene: PUS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.189 PUS1 Sarah Leigh Publications for gene: PUS1 were set to
Mitochondrial disorders v1.188 NAXE Sarah Leigh Classified gene: NAXE as Green List (high evidence)
Mitochondrial disorders v1.188 NAXE Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 7 variants reported in at least 5 unrelated cases.
Mitochondrial disorders v1.188 NAXE Sarah Leigh Gene: naxe has been classified as Green List (High Evidence).
Mitochondrial disorders v1.187 NAXE Sarah Leigh Publications for gene: NAXE were set to
Mitochondrial disorders v1.186 NAXE Sarah Leigh Deleted their comment
Mitochondrial disorders v1.186 NAXE Sarah Leigh Added comment: Comment on phenotypes: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 617186
Mitochondrial disorders v1.186 NAXE Sarah Leigh Phenotypes for gene: NAXE were changed from to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 617186
Mitochondrial disorders v1.185 NAXE Sarah Leigh Mode of inheritance for gene: NAXE was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.184 NADK2 Sarah Leigh Classified gene: NADK2 as Green List (high evidence)
Mitochondrial disorders v1.184 NADK2 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. At least 3 biallelic variants reported in 3 unrelated cases, with supportive functional studies.
Mitochondrial disorders v1.184 NADK2 Sarah Leigh Gene: nadk2 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.183 NADK2 Sarah Leigh Publications for gene: NADK2 were set to
Mitochondrial disorders v1.182 NADK2 Sarah Leigh Mode of inheritance for gene: NADK2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.181 NADK2 Sarah Leigh Phenotypes for gene: NADK2 were changed from to ?2,4-dienoyl-CoA reductase deficiency 616034
Mitochondrial disorders v1.180 MTFMT Sarah Leigh Classified gene: MTFMT as Green List (high evidence)
Mitochondrial disorders v1.180 MTFMT Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 8 variants reported.
Mitochondrial disorders v1.180 MTFMT Sarah Leigh Gene: mtfmt has been classified as Green List (High Evidence).
Mitochondrial disorders v1.179 MTFMT Sarah Leigh Added comment: Comment on phenotypes: Mitochondrial complex I deficiency, nuclear type 27 618248
Mitochondrial disorders v1.179 MTFMT Sarah Leigh Phenotypes for gene: MTFMT were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 15, 614947 to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 15, 614947; Mitochondrial complex I deficiency, nuclear type 27 618248
Mitochondrial disorders v1.178 MTFMT Sarah Leigh Publications for gene: MTFMT were set to
Mitochondrial disorders v1.177 MTFMT Sarah Leigh Mode of inheritance for gene: MTFMT was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.176 MICU1 Sarah Leigh Classified gene: MICU1 as Green List (high evidence)
Mitochondrial disorders v1.176 MICU1 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 4 variants reported in numerous cases.
Mitochondrial disorders v1.176 MICU1 Sarah Leigh Gene: micu1 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.175 MICU1 Sarah Leigh Phenotypes for gene: MICU1 were changed from to Myopathy with extrapyramidal signs 615673
Mitochondrial disorders v1.174 MICU1 Sarah Leigh Publications for gene: MICU1 were set to
Mitochondrial disorders v1.173 MICU1 Sarah Leigh Mode of inheritance for gene: MICU1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.172 MICU1 Sarah Leigh Tag founder-effect tag was added to gene: MICU1.
Mitochondrial disorders v1.172 MECR Sarah Leigh Classified gene: MECR as Green List (high evidence)
Mitochondrial disorders v1.172 MECR Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 6 variants reported in unrelated families.
Mitochondrial disorders v1.172 MECR Sarah Leigh Gene: mecr has been classified as Green List (High Evidence).
Mitochondrial disorders v1.171 MECR Sarah Leigh Phenotypes for gene: MECR were changed from to Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282
Mitochondrial disorders v1.170 MECR Sarah Leigh Publications for gene: MECR were set to
Mitochondrial disorders v1.169 MECR Sarah Leigh Mode of inheritance for gene: MECR was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.168 ISCU Sarah Leigh Classified gene: ISCU as Green List (high evidence)
Mitochondrial disorders v1.168 ISCU Sarah Leigh Added comment: Comment on list classification: Sufficient publshed reported biallelic cases, together with a heterozygous case with supportive functional studies.
Mitochondrial disorders v1.168 ISCU Sarah Leigh Gene: iscu has been classified as Green List (High Evidence).
Mitochondrial disorders v1.167 ISCU Sarah Leigh Mode of inheritance for gene: ISCU was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disorders v1.166 ISCU Sarah Leigh Tag founder-effect tag was added to gene: ISCU.
Mitochondrial disorders v1.166 ISCU Sarah Leigh Publications for gene: ISCU were set to
Mitochondrial disorders v1.165 ISCU Sarah Leigh Mode of inheritance for gene: ISCU was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disorders v1.164 HSD17B10 Sarah Leigh Classified gene: HSD17B10 as Green List (high evidence)
Mitochondrial disorders v1.164 HSD17B10 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 8 variants reported in numerous unrelated cases, together with supportive functional studies.
Mitochondrial disorders v1.164 HSD17B10 Sarah Leigh Gene: hsd17b10 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.163 HSD17B10 Sarah Leigh Phenotypes for gene: HSD17B10 were changed from to HSD10 mitochondrial disease 300438
Mitochondrial disorders v1.162 HSD17B10 Sarah Leigh Publications for gene: HSD17B10 were set to
Mitochondrial disorders v1.161 HSD17B10 Sarah Leigh Mode of inheritance for gene: HSD17B10 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mitochondrial disorders v1.160 GFM2 Sarah Leigh Classified gene: GFM2 as Green List (high evidence)
Mitochondrial disorders v1.160 GFM2 Sarah Leigh Added comment: Comment on list classification: Three additional novel biallelic variants in cases of early-onset neurological presentations of mitochondrial disease, together with supportive functional studies (PMID 29075935).
Mitochondrial disorders v1.160 GFM2 Sarah Leigh Gene: gfm2 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.159 GFM2 Sarah Leigh Phenotypes for gene: GFM2 were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis) to Early-onset neurological presentations of mitochondrial disease; Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Mitochondrial disorders v1.158 GFM2 Sarah Leigh Mode of inheritance for gene: GFM2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.157 GFM2 Sarah Leigh Publications for gene: GFM2 were set to
Mitochondrial disorders v1.156 CARS2 Sarah Leigh Phenotypes for gene: CARS2 were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis); No OMIM phenotype to Combined oxidative phosphorylation deficiency 27 616672; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); No OMIM phenotype
Mitochondrial disorders v1.155 CARS2 Sarah Leigh Classified gene: CARS2 as Green List (high evidence)
Mitochondrial disorders v1.155 CARS2 Sarah Leigh Added comment: Comment on list classification: Additional case of epilepsy, intellectual impairment, dysphagia with gastric tube dependence, and autism spectrum disorder who presented with focal status epilepticus.in a 13 year girl who was compound heterozygous for novel CARS2 variants (PMID 30139652).
Mitochondrial disorders v1.155 CARS2 Sarah Leigh Gene: cars2 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.154 CARS2 Sarah Leigh Publications for gene: CARS2 were set to
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.53 ISCA-37420-Loss Eleanor Williams commented on Region: ISCA-37420-Loss: PMID: 26424144 - Zollino et al 2015 – 1 patient with craniosynostosis and 17q21.31 deletion (patient 28). Other patients with variants in KANSL1 but no craniosynostosis reported.

PMID: 21094706 - Dubourg et al 2011 – report 2 patients with Scaphocephaly and 17q21.31 deletion

PMID: 19447831 -Tan et al 2009 – KANSL1 called KIAA1267 in this paper. 5 patients with mixture of brachycephaly, dolichocephaly, scaphocephaly, positional plagiocephaly.
Clefting v1.34 CHD1 Ellen McDonagh commented on gene: CHD1
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.53 ISCA-37420-Loss Eleanor Williams edited their review of Region: ISCA-37420-Loss: Added comment: Review on behalf of Tracy Lester and Andrew Wilkie: Zollino report 2 cases with scaphocephaly or sagittal CSS.; Changed rating: AMBER; Changed phenotypes: Koolen-de Vries/KANSL haploinsufficiency syndrome.
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.53 ISCA-37420-Loss Eleanor Williams commented on Region: ISCA-37420-Loss
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.53 ISCA-37420-Loss Eleanor Williams Region: ISCA-37420-Loss was added
Region: ISCA-37420-Loss was added to Craniosynostosis. Sources: NHS GMS
Mode of inheritance for Region: ISCA-37420-Loss was set to
Structural eye disease v0.12 B3GALT1 Ivone Leong Classified gene: B3GALT1 as No list
Structural eye disease v0.12 B3GALT1 Ivone Leong Added comment: Comment on list classification: Demoted to grey gene status as this gene is not relevant and should have been B3GLCT instead.
Structural eye disease v0.12 B3GALT1 Ivone Leong Gene: b3galt1 has been removed from the panel.
Lipodystrophy - childhood onset v1.2 PLIN1 Sarah Leigh Publications for gene: PLIN1 were set to 21345103; 25114292; 30020498
Ocular coloboma v1.32 B3GLCT Ivone Leong Classified gene: B3GLCT as Green List (high evidence)
Ocular coloboma v1.32 B3GLCT Ivone Leong Gene: b3glct has been classified as Green List (High Evidence).
Ocular coloboma v1.31 B3GLCT Ivone Leong gene: B3GLCT was added
gene: B3GLCT was added to Ocular coloboma. Sources: Expert Review
Mode of inheritance for gene: B3GLCT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B3GLCT were set to 16909395
Phenotypes for gene: B3GLCT were set to Peters-plus syndrome, 261540
Review for gene: B3GLCT was set to GREEN
Added comment: B3GLCT is associated with a phenotype in OMIM. Coloboma occasionally seen in Peters Plus syndrome.
Sources: Expert Review
Ocular coloboma v1.30 B3GALT1 Ivone Leong Classified gene: B3GALT1 as No list
Ocular coloboma v1.30 B3GALT1 Ivone Leong Added comment: Comment on list classification: Demoted to grey gene status as this gene is not relevant and should have been B3GLCT instead.
Ocular coloboma v1.30 B3GALT1 Ivone Leong Gene: b3galt1 has been removed from the panel.
Hereditary ataxia with onset in adulthood v1.9 ZNF592 Louise Daugherty Added phenotypes Galloway-Mowat Syndrome 1, 251300 for gene: ZNF592
Hereditary ataxia with onset in adulthood v1.9 ZFYVE26 Louise Daugherty Added phenotypes Autosomal recessive spastic paraplegia 15, 270700 for gene: ZFYVE26
Hereditary ataxia with onset in adulthood v1.9 XRCC1 Louise Daugherty Added phenotypes Autosomal recessive spinocerebellar ataxia 26, 617633 for gene: XRCC1
Hereditary ataxia with onset in adulthood v1.9 WWOX Louise Daugherty Added phenotypes Autosomal recessive spinocerebellar ataxia 12, 6143232; Early infantile epileptic encephalopathy 28, 616211 for gene: WWOX
Hereditary ataxia with onset in adulthood v1.9 WFS1 Louise Daugherty Added phenotypes Wolfram syndrome 1, 222300 for gene: WFS1
Hereditary ataxia with onset in adulthood v1.9 WDR81 Louise Daugherty Added phenotypes Cerebellar ataxia, mental retardation and dysequilibrium syndrome 2, 610185; Congenital hydrocephalus 3 with brain anomalies, 617967 for gene: WDR81
Hereditary ataxia with onset in adulthood v1.9 WDR73 Louise Daugherty Added phenotypes Galloway-Mowat Syndrome 1, 251300 for gene: WDR73
Hereditary ataxia with onset in adulthood v1.9 VRK1 Louise Daugherty Added phenotypes Pontocerebellar hypoplasia 1A, 607596 for gene: VRK1
Hereditary ataxia with onset in adulthood v1.9 VPS53 Louise Daugherty Added phenotypes Pontocerebellar hypoplasia 2E, 615851 for gene: VPS53
Hereditary ataxia with onset in adulthood v1.9 VPS13D Louise Daugherty Added phenotypes Autosomal recessive spinocerebellar ataxia 4, 608877 for gene: VPS13D
Hereditary ataxia with onset in adulthood v1.9 VLDLR Louise Daugherty Added phenotypes Cerebellar ataxia, mental retardation and dysequilibirum syndrome 1, 224050 for gene: VLDLR
Hereditary ataxia with onset in adulthood v1.9 VAMP1 Louise Daugherty Added phenotypes Autosomal dominant spastic ataxia 1, 108600 for gene: VAMP1
Hereditary ataxia with onset in adulthood v1.9 UCHL1 Louise Daugherty Added phenotypes Autosomal recessive spastic paraplegia 79, 615491 for gene: UCHL1
Hereditary ataxia with onset in adulthood v1.9 UBR4 Louise Daugherty Added phenotypes Episodic ataxia type 8, 616055 for gene: UBR4
Hereditary ataxia with onset in adulthood v1.9 UBA5 Louise Daugherty Added phenotypes Early infantile epileptic encephalopathy 44, 617132; Autosomal recessive spinocerebellar ataxia 24, 617133 for gene: UBA5
Hereditary ataxia with onset in adulthood v1.9 TWNK Louise Daugherty Added phenotypes Mitochondrial DNA depletion syndrome 7, 271245; Perrault syndrome 5, 616138; Progressive external ophthalmoplegia with mitochondrial DNA deletions, 609286 for gene: TWNK
Hereditary ataxia with onset in adulthood v1.9 TUBB4A Louise Daugherty Added phenotypes Dystonia 4, 128101, Hypomyelinating leukodystrophy 6, 612438 for gene: TUBB4A
Hereditary ataxia with onset in adulthood v1.9 TUBB3 Louise Daugherty Added phenotypes Complex cortical dysplasia with other brain abnormalities 1, 614039 for gene: TUBB3
Hereditary ataxia with onset in adulthood v1.9 TUBB2B Louise Daugherty Added phenotypes Complex cortical dysplasia with other brain abnormalities 7, 610031 for gene: TUBB2B
Hereditary ataxia with onset in adulthood v1.9 TUBB2A Louise Daugherty Added phenotypes Complex cortical dysplasia with other brain malformations 5, 615763 for gene: TUBB2A
Hereditary ataxia with onset in adulthood v1.9 TUBB Louise Daugherty Added phenotypes Complex cortical dysplasia with other brain malformations 6, 615771 for gene: TUBB
Hereditary ataxia with onset in adulthood v1.9 TUBA8 Louise Daugherty Added phenotypes Complex cortical dysplasia with other brain malformations 8, 613180 for gene: TUBA8
Hereditary ataxia with onset in adulthood v1.9 TUBA1A Louise Daugherty Added phenotypes Lissencephaly 3, 611603 for gene: TUBA1A
Hereditary ataxia with onset in adulthood v1.9 TTPA Louise Daugherty Added phenotypes Ataxia with isolated vitamin E deficiency, 277460 for gene: TTPA
Hereditary ataxia with onset in adulthood v1.9 TTC19 Louise Daugherty Added phenotypes Mitochondrial complex III deficiency nuclear type II, 615157 for gene: TTC19
Hereditary ataxia with onset in adulthood v1.9 TTBK2 Louise Daugherty Added phenotypes Spinocerebellar ataxia 11, 604432 for gene: TTBK2
Hereditary ataxia with onset in adulthood v1.9 TSEN54 Louise Daugherty Added phenotypes Pontocerebellar hypoplasia 5, 610204; Pontocerebellar hypoplasia 2A, 277470; Pontocerebellar hypoplasia 4, 225753 for gene: TSEN54
Hereditary ataxia with onset in adulthood v1.9 TSEN34 Louise Daugherty Added phenotypes Pontocerebellar hypoplasia 2C, 612390 for gene: TSEN34
Hereditary ataxia with onset in adulthood v1.9 TSEN2 Louise Daugherty Added phenotypes Pontocerebellar hypoplasia 2B, 612389 for gene: TSEN2
Hereditary ataxia with onset in adulthood v1.9 TSEN15 Louise Daugherty Added phenotypes Pontocerebellar hypoplasia 2F, 617026 for gene: TSEN15
Hereditary ataxia with onset in adulthood v1.9 TPP1 Louise Daugherty Added phenotypes Autosomal recessive spinocerebellar ataxia 7, 609270; Neuronal ceroid lipofuscinosis, 204500 for gene: TPP1
Hereditary ataxia with onset in adulthood v1.9 TOE1 Louise Daugherty Added phenotypes Pontocerebellar hypoplasia 7, 614969 for gene: TOE1
Hereditary ataxia with onset in adulthood v1.9 TMEM240 Louise Daugherty Added phenotypes Spinocerebellar ataxia 21, 607454 for gene: TMEM240
Hereditary ataxia with onset in adulthood v1.9 TMEM106B Louise Daugherty Added phenotypes Hypomyelinating leukodystrophy 16, 617964 for gene: TMEM106B
Hereditary ataxia with onset in adulthood v1.9 TINF2 Louise Daugherty Added phenotypes Autosomal dominant dyskeratosis congenita 3, 613990; Revesz syndrome, 268130 for gene: TINF2
Hereditary ataxia with onset in adulthood v1.9 THG1L Louise Daugherty Added phenotypes Cerebellar ataxia with developmental delay for gene: THG1L
Hereditary ataxia with onset in adulthood v1.9 TGM6 Louise Daugherty Added phenotypes Spinocerebellar ataxia 35 for gene: TGM6
Hereditary ataxia with onset in adulthood v1.9 TERT Louise Daugherty Added phenotypes Dyskeratosis congenita, 613989 for gene: TERT
Hereditary ataxia with onset in adulthood v1.9 TDP1 Louise Daugherty Added phenotypes Autosomal recessive spinocerebellar ataxia with axonal neuropathy, 607250 for gene: TDP1
Hereditary ataxia with onset in adulthood v1.9 TBC1D23 Louise Daugherty Added phenotypes Pontocerebellar hypoplasia type 11, 617695 for gene: TBC1D23
Hereditary ataxia with onset in adulthood v1.9 SYT14 Louise Daugherty Added phenotypes Autosomal recessive spinocerebellar ataxia 11, 614229 for gene: SYT14
Hereditary ataxia with onset in adulthood v1.9 SYNGAP1 Louise Daugherty Added phenotypes Autosomal dominant mental retardation 5, 612621 for gene: SYNGAP1
Hereditary ataxia with onset in adulthood v1.9 SYNE1 Louise Daugherty Added phenotypes Autosomal recessive spinocerebellar ataxia type 8 for gene: SYNE1
Hereditary ataxia with onset in adulthood v1.9 STUB1 Louise Daugherty Added phenotypes Autosomal recessive spinocerebellar ataxia type 16, 615768 for gene: STUB1
Hereditary ataxia with onset in adulthood v1.9 SRD5A3 Louise Daugherty Added phenotypes Congenital disorder of glycosylation type Iq, 612379 for gene: SRD5A3
Hereditary ataxia with onset in adulthood v1.9 SQSTM1 Louise Daugherty Added phenotypes Neurodegeneration with ataxia, dystonia, and gaze palsy, 617145 for gene: SQSTM1
Hereditary ataxia with onset in adulthood v1.9 SPTBN2 Louise Daugherty Added phenotypes Autosomal recessive spinocerebellar ataxia 14, 615386; Spinocerebellar ataxia 5, 600224 for gene: SPTBN2
Hereditary ataxia with onset in adulthood v1.9 SPR Louise Daugherty Added phenotypes Dopa-responsive dystonia due to sepiaterin reductase deficiency, 612716 for gene: SPR
Hereditary ataxia with onset in adulthood v1.9 SPG7 Louise Daugherty Added phenotypes Autosomal recessive spastic paraplegia 7, 607259 for gene: SPG7
Hereditary ataxia with onset in adulthood v1.9 SNX14 Louise Daugherty Added phenotypes Autosomal recessive spinocerebellar ataxia 20, 616354 for gene: SNX14
Hereditary ataxia with onset in adulthood v1.9 SLC9A1 Louise Daugherty Added phenotypes Lichtenstein-Knorr Syndrome for gene: SLC9A1
Hereditary ataxia with onset in adulthood v1.9 SLC6A5 Louise Daugherty Added phenotypes Hyperekplexia 3, 614618 for gene: SLC6A5
Hereditary ataxia with onset in adulthood v1.9 SLC52A2 Louise Daugherty Added phenotypes Bwon-Vialetto-Van Laere syndrome 2 for gene: SLC52A2
Hereditary ataxia with onset in adulthood v1.9 SLC39A8 Louise Daugherty Added phenotypes Congenital disorder of glycosylation type IIN, 616721 for gene: SLC39A8
Hereditary ataxia with onset in adulthood v1.9 SLC2A1 Louise Daugherty Added phenotypes Dystonia 9, 601042; GLUT1 deficiency syndrome 2, 612126; GLUT1 deficiency syndrome 1, 606777 for gene: SLC2A1
Hereditary ataxia with onset in adulthood v1.9 SLC25A46 Louise Daugherty Added phenotypes Hereditary motor and sensory neuropathy type VIB, 616505 for gene: SLC25A46
Hereditary ataxia with onset in adulthood v1.9 SLC25A32 Louise Daugherty Added phenotypes Riboflavin-responsive exericise intolerance, 616839 for gene: SLC25A32
Hereditary ataxia with onset in adulthood v1.9 SLC1A3 Louise Daugherty Added phenotypes Episodic ataxia type 6, 612656 for gene: SLC1A3
Hereditary ataxia with onset in adulthood v1.9 SIL1 Louise Daugherty Added phenotypes Marinesco-Sjogren syndrome, 248800 for gene: SIL1
Hereditary ataxia with onset in adulthood v1.9 SETX Louise Daugherty Added phenotypes Autosomal recessive spinocerebellar ataxia type 1, 606002 for gene: SETX
Hereditary ataxia with onset in adulthood v1.9 SEPSECS Louise Daugherty Added phenotypes Pontocerebellar hypoplasia type 2D, 613811 for gene: SEPSECS
Hereditary ataxia with onset in adulthood v1.9 SCYL1 Louise Daugherty Added phenotypes Autosomal recessive for gene: SCYL1
Hereditary ataxia with onset in adulthood v1.9 SCN8A Louise Daugherty Added phenotypes Cognitive impairment with or without cerebellar ataxia, 614306; Epileptic encephalopathy 13, 614558; Benign familial infantile seizures 5, 617080 for gene: SCN8A
Hereditary ataxia with onset in adulthood v1.9 SCN1A Louise Daugherty Added phenotypes Generalised epilepsy with febrile seizures type 2, 604403; Familial hemiplegic migraine 3, 609634; Familial febrile seziures 3A, 604403; Epileptic encephalopathy 6, 607208 for gene: SCN1A
Hereditary ataxia with onset in adulthood v1.9 SAR1B Louise Daugherty Added phenotypes Chylomicron retention disease, 246700 for gene: SAR1B
Hereditary ataxia with onset in adulthood v1.9 SAMD9L Louise Daugherty Added phenotypes Ataxia-pancytopenia syndrome, 159550 for gene: SAMD9L
Hereditary ataxia with onset in adulthood v1.9 SACS Louise Daugherty Added phenotypes Charlevoix-Saguenay spastic ataxia, 270550 for gene: SACS
Hereditary ataxia with onset in adulthood v1.9 RUBCN Louise Daugherty Added phenotypes Autosomal recessive spinocerebellar ataxia 15, 615705 for gene: RUBCN
Hereditary ataxia with onset in adulthood v1.9 RORA Louise Daugherty Added phenotypes Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060 for gene: RORA
Hereditary ataxia with onset in adulthood v1.9 ROBO3 Louise Daugherty Added phenotypes Familial horizontal gaze palsy with progressive scoliosis, 607313 for gene: ROBO3
Hereditary ataxia with onset in adulthood v1.9 RNF216 Louise Daugherty Added phenotypes Cerebellar ataxia and hypogonadotrophic hypogonadism for gene: RNF216
Hereditary ataxia with onset in adulthood v1.9 RNF170 Louise Daugherty Added phenotypes Autosomal dominant sensory ataxia 1, 608984 for gene: RNF170
Hereditary ataxia with onset in adulthood v1.9 RELN Louise Daugherty Added phenotypes Lissencephaly 2, 257320 for gene: RELN
Hereditary ataxia with onset in adulthood v1.9 RARS2 Louise Daugherty Added phenotypes Pontocerebellar hypoplasia 6, 611523 for gene: RARS2
Hereditary ataxia with onset in adulthood v1.9 PUM1 Louise Daugherty Added phenotypes Spinocerebellar ataxia 47, 617931 for gene: PUM1
Hereditary ataxia with onset in adulthood v1.9 PTRH2 Louise Daugherty Added phenotypes Infantile multi-system neurologic, endocrine, and pancreatic disease, 616263 for gene: PTRH2
Hereditary ataxia with onset in adulthood v1.9 PRRT2 Louise Daugherty Added phenotypes Familial infantile convulsions with paroxysmal dyskinesia 1, 602066; episodic kinesigenic dyskinesia, 128200 for gene: PRRT2
Hereditary ataxia with onset in adulthood v1.9 PRNP Louise Daugherty Added phenotypes Multiple allelic disorders reported for gene: PRNP
Hereditary ataxia with onset in adulthood v1.9 PRKCG Louise Daugherty Added phenotypes Spincocerebellar ataxia 14, 605361 for gene: PRKCG
Hereditary ataxia with onset in adulthood v1.9 PRICKLE1 Louise Daugherty Added phenotypes Progressive myoclonic epilepsy 1B, 612437 for gene: PRICKLE1
Hereditary ataxia with onset in adulthood v1.9 POLR3A Louise Daugherty Added phenotypes Hypomyelinating leukodystrophy 7 with or without oligodontia and/or hypogonadotrophic hypogonadism, 607694 for gene: POLR3A
Hereditary ataxia with onset in adulthood v1.9 POLG2 Louise Daugherty Added phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 610131 for gene: POLG2
Hereditary ataxia with onset in adulthood v1.9 POLG Louise Daugherty Added phenotypes Mitochondrial recessive ataxia syndrome, 607459; autosomal recessive progressive external opthalmoplegia, 258450; autosomal dominant progressive external ophthalmoplegia, 157640; Mitochondrial DNA depletion types 4A, 203700 and 4B, 613662 for gene: POLG
Hereditary ataxia with onset in adulthood v1.9 PNPLA6 Louise Daugherty Added phenotypes Boucher-Neuhauser syndrome, 215470; Sapstic paraplegia 39, 612020; Oliver-McFarlane syndrome, 275400 for gene: PNPLA6
Hereditary ataxia with onset in adulthood v1.9 PNKP Louise Daugherty Added phenotypes Ataxia-oculomotor apraxia 4, 616267; Microcephaly, seizures and developmental delay, 613402 for gene: PNKP
Hereditary ataxia with onset in adulthood v1.9 PNKD Louise Daugherty Added phenotypes Paroxysmal nonkinesigenic dyskinesia 1, 118800 for gene: PNKD
Hereditary ataxia with onset in adulthood v1.9 PMPCB Louise Daugherty Added phenotypes Multiple mitochondrial dysfunctions syndrome 6, 617954 for gene: PMPCB
Hereditary ataxia with onset in adulthood v1.9 PMPCA Louise Daugherty Added phenotypes Autosomal recessive spinocerebellar ataxia 2, 213200 for gene: PMPCA
Hereditary ataxia with onset in adulthood v1.9 PLA2G6 Louise Daugherty Added phenotypes Autosomal recessive Parkinson disease 14, 612953; Infantile neuroaxonal dystrophy 1, 256600; Neurodegeneration with brain iron accumulation 2B, 610217 for gene: PLA2G6
Hereditary ataxia with onset in adulthood v1.9 PIK3R5 Louise Daugherty Added phenotypes Ataxia-oculomotor apraxia 3, 615217 for gene: PIK3R5
Hereditary ataxia with onset in adulthood v1.9 PI4KA Louise Daugherty Added phenotypes Polymicrogyria, perisylvian with cerebellar hypoplasia and arthrogryposis, 616531 for gene: PI4KA
Hereditary ataxia with onset in adulthood v1.9 PEX6 Louise Daugherty Added phenotypes Peroxisome biogenesis disorder 4A, 614862; Peroxisome biogenesis disorder 4B, 614863 for gene: PEX6
Hereditary ataxia with onset in adulthood v1.9 PEX16 Louise Daugherty Added phenotypes Peroxisome biogenesis disorder 8B, 614877; Peroxisome biogenesis disorder 8A, 614876 for gene: PEX16
Hereditary ataxia with onset in adulthood v1.9 PDYN Louise Daugherty Added phenotypes Spinocerebellar ataxia 23, 610245 for gene: PDYN
Hereditary ataxia with onset in adulthood v1.9 PCLO Louise Daugherty Added phenotypes Pontocerebellar hypoplasia type 3, 608027 for gene: PCLO
Hereditary ataxia with onset in adulthood v1.9 PAX6 Louise Daugherty Added phenotypes Aniridia, 106210 for gene: PAX6
Hereditary ataxia with onset in adulthood v1.9 PAX2 Louise Daugherty Added phenotypes Papillorenal syndrome, AR for gene: PAX2
Hereditary ataxia with onset in adulthood v1.9 PACS2 Louise Daugherty Added phenotypes Early infantile epileptic encephalopathy 66, 618067 for gene: PACS2
Hereditary ataxia with onset in adulthood v1.9 OPHN1 Louise Daugherty Added phenotypes X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance, 300486 for gene: OPHN1
Hereditary ataxia with onset in adulthood v1.9 OPA3 Louise Daugherty Added phenotypes Optic atrophy 3 with cataract, 165300; 3-methylglutaconic aciduria type III, 258501 for gene: OPA3
Hereditary ataxia with onset in adulthood v1.9 OPA1 Louise Daugherty Added phenotypes Optic atrophy 1, 165500; Behr syndrome, 210000; Optic atrophy plus syndrome, 125250 for gene: OPA1
Hereditary ataxia with onset in adulthood v1.9 NPC2 Louise Daugherty Added phenotypes Niemann-Pick disease type C2, 607625 for gene: NPC2
Hereditary ataxia with onset in adulthood v1.9 NPC1 Louise Daugherty Added phenotypes Niemann-Pick disease type C1, 257220 for gene: NPC1
Hereditary ataxia with onset in adulthood v1.9 NKX6-2 Louise Daugherty Added phenotypes Autosomal recessive spastic ataxia 8 with hypomyelinating leukodystrophy, 617560 for gene: NKX6-2
Hereditary ataxia with onset in adulthood v1.9 NKX2-1 Louise Daugherty Added phenotypes Hereditary bening chorea, 118700; Choreoathetosis, hypothyroidism and neonatal respiratory distress, 610978 for gene: NKX2-1
Hereditary ataxia with onset in adulthood v1.9 NHLRC1 Louise Daugherty Added phenotypes Progressive myoclonic epilepsy 2B, Lafora, 254780 for gene: NHLRC1
Hereditary ataxia with onset in adulthood v1.9 NAGLU Louise Daugherty Added phenotypes CMT axon type 2V, 616491 for gene: NAGLU
Hereditary ataxia with onset in adulthood v1.9 MTTP Louise Daugherty Added phenotypes Abetalipoproteinemia for gene: MTTP
Hereditary ataxia with onset in adulthood v1.9 MTPAP Louise Daugherty Added phenotypes Autosomal recessive spastic ataxia 4, 613672 for gene: MTPAP
Hereditary ataxia with onset in adulthood v1.9 MT-ATP6 Louise Daugherty Added phenotypes Neuropathy, ataxia and retinitis pigmentosa, NARP, 551500 for gene: MT-ATP6
Hereditary ataxia with onset in adulthood v1.9 MSTO1 Louise Daugherty Added phenotypes Mitochondrial myopathy and ataxia for gene: MSTO1
Hereditary ataxia with onset in adulthood v1.9 MRE11 Louise Daugherty Added phenotypes Ataxia-telangiectasia-like disorder 1, 604391 for gene: MRE11
Hereditary ataxia with onset in adulthood v1.9 MORC2 Louise Daugherty Added phenotypes Axonal type CMT disease type 2Z, 616688 for gene: MORC2
Hereditary ataxia with onset in adulthood v1.9 MME Louise Daugherty Added phenotypes Spinocerebellar ataxia type 43, 617018 for gene: MME
Hereditary ataxia with onset in adulthood v1.9 MMACHC Louise Daugherty Added phenotypes Methylmalonic aciduria and homocystinuria cblC type, 277400 for gene: MMACHC
Hereditary ataxia with onset in adulthood v1.9 MFN2 Louise Daugherty Added phenotypes Dominant optic atrophy plus, not listed in for gene: MFN2
Hereditary ataxia with onset in adulthood v1.9 MARS2 Louise Daugherty Added phenotypes Autosomal recessive spastic ataxia 3, 611390 for gene: MARS2
Hereditary ataxia with onset in adulthood v1.9 MAPK8IP3 Louise Daugherty Added phenotypes ID with variable brain anomalies, not included in for gene: MAPK8IP3
Hereditary ataxia with onset in adulthood v1.9 LNPK Louise Daugherty Added phenotypes Neurodevelopmental disorder with epilepsy and hypoplasia or the corpus callosum for gene: LNPK
Hereditary ataxia with onset in adulthood v1.9 KIF1C Louise Daugherty Added phenotypes Autosomal recessive spastic ataxia 2, 611302 for gene: KIF1C
Hereditary ataxia with onset in adulthood v1.9 KCNQ3 Louise Daugherty Added phenotypes Benign neonatal seizures 2, 121201 for gene: KCNQ3
Hereditary ataxia with onset in adulthood v1.9 KCNQ2 Louise Daugherty Added phenotypes Early infantile encephalopathy 7, 613720 for gene: KCNQ2
Hereditary ataxia with onset in adulthood v1.9 KCNK18 Louise Daugherty Added phenotypes Susceptibility to migraine with/without arua 13, 613656 for gene: KCNK18
Hereditary ataxia with onset in adulthood v1.9 KCNJ10 Louise Daugherty Added phenotypes SESAME syndrome, 612780 for gene: KCNJ10
Hereditary ataxia with onset in adulthood v1.9 KCND3 Louise Daugherty Added phenotypes Spinocerebellar ataxia 19, 607346 for gene: KCND3
Hereditary ataxia with onset in adulthood v1.9 KCNC3 Louise Daugherty Added phenotypes Spinocerebellar ataxia 13, 605259 for gene: KCNC3
Hereditary ataxia with onset in adulthood v1.9 KCNA2 Louise Daugherty Added phenotypes Early infantile encephalopathy 32, 616366 for gene: KCNA2
Hereditary ataxia with onset in adulthood v1.9 KCNA1 Louise Daugherty Added phenotypes Episodic ataxia/myokymia syndrome, 160120 for gene: KCNA1
Hereditary ataxia with onset in adulthood v1.9 ITPR1 Louise Daugherty Added phenotypes Spinocerebellar ataxia 29, 117360; Gillespie syndrome, 206700; Spinocerebellar ataxia 15, 606658 for gene: ITPR1
Hereditary ataxia with onset in adulthood v1.9 IRF2BPL Louise Daugherty Added phenotypes Neurodevelopmental disorder with regression, abnormal movement, loss of speech and seizures, 618088 for gene: IRF2BPL
Hereditary ataxia with onset in adulthood v1.9 HTT Louise Daugherty Added phenotypes Huntington disease, 143100, 617432 for gene: HTT
Hereditary ataxia with onset in adulthood v1.9 HEXB Louise Daugherty Added phenotypes Sandhoff disease, 268800 for gene: HEXB
Hereditary ataxia with onset in adulthood v1.9 HEXA Louise Daugherty Added phenotypes Tay-Sachs disease, 272800 for gene: HEXA
Hereditary ataxia with onset in adulthood v1.9 GRM1 Louise Daugherty Added phenotypes Spinocerebellar ataxia 44, 617691, autosomal recessive spinocerebellar ataxia type 13, 614831 for gene: GRM1
Hereditary ataxia with onset in adulthood v1.9 GRID2 Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive 18, 616204 for gene: GRID2
Hereditary ataxia with onset in adulthood v1.9 GPAA1 Louise Daugherty Added phenotypes Glycosylphosphatidylinositol biosynthesis defect 15, 617810 for gene: GPAA1
Hereditary ataxia with onset in adulthood v1.9 GOSR2 Louise Daugherty Added phenotypes Progressive myoclonic epilepsy 6, 614018 for gene: GOSR2
Hereditary ataxia with onset in adulthood v1.9 GLRB Louise Daugherty Added phenotypes Hyperekplexia 2, 614619 for gene: GLRB
Hereditary ataxia with onset in adulthood v1.9 GLRA1 Louise Daugherty Added phenotypes Hyperekplexia 1, 149400 for gene: GLRA1
Hereditary ataxia with onset in adulthood v1.9 GLI3 Louise Daugherty Added phenotypes Greig syndrome, 175700; Pallister-Hall syndrome, 146510; Polydactyly type IV, 174700; Polydactyly types A1/B, 174200 for gene: GLI3
Hereditary ataxia with onset in adulthood v1.9 GJC2 Louise Daugherty Added phenotypes Spastic paraplegia 44, 613206; Hypomyelinating leukodystrophy 2, 608804 for gene: GJC2
Hereditary ataxia with onset in adulthood v1.9 GFAP Louise Daugherty Added phenotypes Alexander disease, 203450 for gene: GFAP
Hereditary ataxia with onset in adulthood v1.9 GDAP2 Louise Daugherty Added phenotypes Autosomal recessive spinocerebellar ataxia, not listed in for gene: GDAP2
Hereditary ataxia with onset in adulthood v1.9 GBA2 Louise Daugherty Added phenotypes Spastic paraplegia 46, 614409 for gene: GBA2
Hereditary ataxia with onset in adulthood v1.9 FXN Louise Daugherty Added phenotypes Friedreich ataxia, 229300 for gene: FXN
Hereditary ataxia with onset in adulthood v1.9 FRMD4A Louise Daugherty Added phenotypes Agenesis of corpus callosum with facial anomalies and cerebellar ataxia for gene: FRMD4A
Hereditary ataxia with onset in adulthood v1.9 FOLR1 Louise Daugherty Added phenotypes Neurodegeneration due to cerebral folate transport deficiency for gene: FOLR1
Hereditary ataxia with onset in adulthood v1.9 FMR1 Louise Daugherty Added phenotypes Fragile X tremor/ataxia syndrome for gene: FMR1
Hereditary ataxia with onset in adulthood v1.9 FLVCR1 Louise Daugherty Added phenotypes Posterior column ataxia with retinitis pigmentosa, 609033 for gene: FLVCR1
Hereditary ataxia with onset in adulthood v1.9 FGF14 Louise Daugherty Added phenotypes Spinocerebellar ataxia type 27, 609307 for gene: FGF14
Hereditary ataxia with onset in adulthood v1.9 EXOSC9 Louise Daugherty Added phenotypes Pontocerebellar hypoplasia type 1D, 618065 for gene: EXOSC9
Hereditary ataxia with onset in adulthood v1.9 EXOSC8 Louise Daugherty Added phenotypes Pontocerebellar hypoplasia type 1C for gene: EXOSC8
Hereditary ataxia with onset in adulthood v1.9 EXOSC3 Louise Daugherty Added phenotypes Pontocerebellar hypoplasia type 1B, 614678 for gene: EXOSC3
Hereditary ataxia with onset in adulthood v1.9 EPM2A Louise Daugherty Added phenotypes Progressive myoclonic epilepsy 2A, Lafora, 254780 for gene: EPM2A
Hereditary ataxia with onset in adulthood v1.9 ELOVL5 Louise Daugherty Added phenotypes Spinocerebellar ataxia 38, 615957 for gene: ELOVL5
Hereditary ataxia with onset in adulthood v1.9 ELOVL4 Louise Daugherty Added phenotypes Spinocerebellar ataxia 34, 133190 for gene: ELOVL4
Hereditary ataxia with onset in adulthood v1.9 EIF2B5 Louise Daugherty Added phenotypes Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B5
Hereditary ataxia with onset in adulthood v1.9 EIF2B4 Louise Daugherty Added phenotypes Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B4
Hereditary ataxia with onset in adulthood v1.9 EIF2B3 Louise Daugherty Added phenotypes Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B3
Hereditary ataxia with onset in adulthood v1.9 EIF2B2 Louise Daugherty Added phenotypes Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B2
Hereditary ataxia with onset in adulthood v1.9 EIF2B1 Louise Daugherty Added phenotypes Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B1
Hereditary ataxia with onset in adulthood v1.9 EBF3 Louise Daugherty Added phenotypes Hypotonia, ataxia and delayed development syndrome, 617330 for gene: EBF3
Hereditary ataxia with onset in adulthood v1.9 DYNC1H1 Louise Daugherty Added phenotypes Autosomal dominant MR 13, 614563 most relevant for gene: DYNC1H1
Hereditary ataxia with onset in adulthood v1.9 DNMT1 Louise Daugherty Added phenotypes Cerebellar ataxia, deafness and narcolepsy, 604121; Hereditary sensory neuropathy type IE, 614116 for gene: DNMT1
Hereditary ataxia with onset in adulthood v1.9 DNAJC5 Louise Daugherty Added phenotypes Ceroid neuronal lipofuscinosis 4, Parry type, 162350 for gene: DNAJC5
Hereditary ataxia with onset in adulthood v1.9 DNAJC19 Louise Daugherty Added phenotypes 3-methylglutaconic aciduria type V, 610198 for gene: DNAJC19
Hereditary ataxia with onset in adulthood v1.9 DMXL2 Louise Daugherty Added phenotypes Polyendocrine-polyneuropathy syndrome, 616113 for gene: DMXL2
Hereditary ataxia with onset in adulthood v1.9 DDHD2 Louise Daugherty Added phenotypes Spastic paraplegia 54 for gene: DDHD2
Hereditary ataxia with onset in adulthood v1.9 DCC Louise Daugherty Added phenotypes Mirror movements 1 and/or agenesis of the corpus callosum for gene: DCC
Hereditary ataxia with onset in adulthood v1.9 DARS2 Louise Daugherty Added phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation for gene: DARS2
Hereditary ataxia with onset in adulthood v1.9 DAB1 Louise Daugherty Added phenotypes Spinocerebellar ataxia 37, 615945 for gene: DAB1
Hereditary ataxia with onset in adulthood v1.9 CYP2U1 Louise Daugherty Added phenotypes Spastic paraplegia type 56, 615030 for gene: CYP2U1
Hereditary ataxia with onset in adulthood v1.9 CYP27A1 Louise Daugherty Added phenotypes Cerebrotendinous xanthomatosis, 213700 for gene: CYP27A1
Hereditary ataxia with onset in adulthood v1.9 CWF19L1 Louise Daugherty Added phenotypes Autosomal recessive spinocerebellar ataxia type 17, 616127 for gene: CWF19L1
Hereditary ataxia with onset in adulthood v1.9 CSTB Louise Daugherty Added phenotypes Progressive myoclonic epilepsy 1A, 254800 for gene: CSTB
Hereditary ataxia with onset in adulthood v1.9 CP Louise Daugherty Added phenotypes Aceruloplasminemia, 604290 for gene: CP
Hereditary ataxia with onset in adulthood v1.9 COX20 Louise Daugherty Added phenotypes Mitochondrial complex IV deficiency for gene: COX20
Hereditary ataxia with onset in adulthood v1.9 COQ8A Louise Daugherty Added phenotypes Primary coenzyme Q10 deficiency 4, 612016 for gene: COQ8A
Hereditary ataxia with onset in adulthood v1.9 COG5 Louise Daugherty Added phenotypes Congenital disorder of glycosylation type 2i, 613612 for gene: COG5
Hereditary ataxia with onset in adulthood v1.9 COASY Louise Daugherty Added phenotypes Pontocerebellar hypoplasia type 12, 618266; Neurodegeneration with brain iron accumulation 6, 615643 for gene: COASY
Hereditary ataxia with onset in adulthood v1.9 COA7 Louise Daugherty Added phenotypes Spinocerebellar ataxia with axonal neuropathy for gene: COA7
Hereditary ataxia with onset in adulthood v1.9 CLP1 Louise Daugherty Added phenotypes Pontocerebellar hypoplasia type 10, 615803 for gene: CLP1
Hereditary ataxia with onset in adulthood v1.9 CLN6 Louise Daugherty Added phenotypes Ceroid neuronal lipofuscinosis 6, 601780; Ceroid neuronal lipofuscinosis kufs type, 204300 for gene: CLN6
Hereditary ataxia with onset in adulthood v1.9 CLCN2 Louise Daugherty Added phenotypes Leukoencephalopathy with ataxia, 615651 for gene: CLCN2
Hereditary ataxia with onset in adulthood v1.9 CHMP1A Louise Daugherty Added phenotypes Pontocerebellar hypoplasia type 8, 614961 for gene: CHMP1A
Hereditary ataxia with onset in adulthood v1.9 CDK5 Louise Daugherty Added phenotypes Lissencephaly 7 with cerebellar hypoplasia, 616342 for gene: CDK5
Hereditary ataxia with onset in adulthood v1.9 CCDC88C Louise Daugherty Added phenotypes Spinocerebellar ataxia 40, 616053 for gene: CCDC88C
Hereditary ataxia with onset in adulthood v1.9 CASK Louise Daugherty Added phenotypes FG syndrome 4, 300422; Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749 for gene: CASK
Hereditary ataxia with onset in adulthood v1.9 CAPN1 Louise Daugherty Added phenotypes Spastic paraplegia type 76, 616907 for gene: CAPN1
Hereditary ataxia with onset in adulthood v1.9 CAMTA1 Louise Daugherty Added phenotypes Cerebellar ataxia with mental retardation, 614756 for gene: CAMTA1
Hereditary ataxia with onset in adulthood v1.9 CACNB4 Louise Daugherty Added phenotypes Episodic ataxia type 5, 613855 for gene: CACNB4
Hereditary ataxia with onset in adulthood v1.9 CACNA1G Louise Daugherty Added phenotypes Spinocerebellar ataxia 42, 616795; early-onset SCA42 with neurodevelopmental deficits, 618087 for gene: CACNA1G
Hereditary ataxia with onset in adulthood v1.9 CACNA1A Louise Daugherty Added phenotypes Episodic ataxia type 2, 108500; SCA6, 183086; Familial hemiplegic migraine 1, 141500 for gene: CACNA1A
Hereditary ataxia with onset in adulthood v1.9 CA8 Louise Daugherty Added phenotypes Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227 for gene: CA8
Hereditary ataxia with onset in adulthood v1.9 BRF1 Louise Daugherty Added phenotypes Cerebrofaciodental syndrome for gene: BRF1
Hereditary ataxia with onset in adulthood v1.9 BEAN1 Louise Daugherty Added phenotypes Spinocerebellar ataxia 31, 117210 for gene: BEAN1
Hereditary ataxia with onset in adulthood v1.9 B4GAT1 Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy type A13, 615287 for gene: B4GAT1
Hereditary ataxia with onset in adulthood v1.9 B3GALNT2 Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy type A11, 615181 for gene: B3GALNT2
Hereditary ataxia with onset in adulthood v1.9 ATXN7 Louise Daugherty Added phenotypes Spinocerebellar ataxia 7, 164500 for gene: ATXN7
Hereditary ataxia with onset in adulthood v1.9 ATXN3 Louise Daugherty Added phenotypes Machado-Joseph disease, 109150 for gene: ATXN3
Hereditary ataxia with onset in adulthood v1.9 ATXN2 Louise Daugherty Added phenotypes Spinocerebellar ataxia 2, 183090 for gene: ATXN2
Hereditary ataxia with onset in adulthood v1.9 ATXN10 Louise Daugherty Added phenotypes Spinocerebellar ataxia 10, 603516 for gene: ATXN10
Hereditary ataxia with onset in adulthood v1.9 ATXN1 Louise Daugherty Added phenotypes Spinocerebellar ataxia 1, 164400 for gene: ATXN1
Hereditary ataxia with onset in adulthood v1.9 ATP8A2 Louise Daugherty Added phenotypes Cerebellar ataxia, mental retardation and dysequilibirum syndrome 4 for gene: ATP8A2
Hereditary ataxia with onset in adulthood v1.9 ATP7B Louise Daugherty Added phenotypes Wilson disease, 277900 for gene: ATP7B
Hereditary ataxia with onset in adulthood v1.9 ATP2B3 Louise Daugherty Added phenotypes X-linked spinocerebellar ataxia, 302500 for gene: ATP2B3
Hereditary ataxia with onset in adulthood v1.9 ATP1A3 Louise Daugherty Added phenotypes Alternating hemiplegia of childhood 2, 614820; CAPOS syndrome, 601338; Dystonia-12, 128235 for gene: ATP1A3
Hereditary ataxia with onset in adulthood v1.9 ATP1A2 Louise Daugherty Added phenotypes Alternating hemiplegia of childhood 1, 104290; Familial hemiplegic migraine 2, 602481 for gene: ATP1A2
Hereditary ataxia with onset in adulthood v1.9 ATN1 Louise Daugherty Added phenotypes Dentato-pallidoluysian atrophy for gene: ATN1
Hereditary ataxia with onset in adulthood v1.9 ATM Louise Daugherty Added phenotypes Ataxia-telangiectasia, 607585 for gene: ATM
Hereditary ataxia with onset in adulthood v1.9 ATCAY Louise Daugherty Added phenotypes Cayman Ataxia, 601238 for gene: ATCAY
Hereditary ataxia with onset in adulthood v1.9 ARSA Louise Daugherty Added phenotypes Metachromatic Leukodystrophy, 250100 for gene: ARSA
Hereditary ataxia with onset in adulthood v1.9 APTX Louise Daugherty Added phenotypes Early onset ataxia with oculomotor apraxia and hypoalbuminemia for gene: APTX
Hereditary ataxia with onset in adulthood v1.9 AP1S2 Louise Daugherty Added phenotypes Mental retardation, X-linked syndromic 5, 304340; Pettigrew syndrome for gene: AP1S2
Hereditary ataxia with onset in adulthood v1.9 ANO10 Louise Daugherty Added phenotypes Spinocerebellar ataxia autosomal recessive type 10, 613728 for gene: ANO10
Hereditary ataxia with onset in adulthood v1.9 AMPD2 Louise Daugherty Added phenotypes Pontocerebellar hyoplasia 9, 615809 for gene: AMPD2
Hereditary ataxia with onset in adulthood v1.9 AFG3L2 Louise Daugherty Added phenotypes spastic ataxia 5, 614487; Spinocerebellar ataxia 28, 610246 for gene: AFG3L2
Hereditary ataxia with onset in adulthood v1.9 ADPRHL2 Louise Daugherty Added phenotypes Neurodegeneration, childhood-onset, stress-induced with variable ataxia and seizures, 618170 for gene: ADPRHL2
Hereditary ataxia with onset in adulthood v1.9 ADGRG1 Louise Daugherty Added phenotypes Polymicrogyria, Frontoparietal, 606854; Polymicrogyria, perisylvian type, 615752 for gene: ADGRG1
Hereditary ataxia with onset in adulthood v1.9 ADCY5 Louise Daugherty Added phenotypes Dyskinesia with facial myokymia for gene: ADCY5
Hereditary ataxia with onset in adulthood v1.9 ABHD12 Louise Daugherty Added phenotypes Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataract, 612674 for gene: ABHD12
Hereditary ataxia with onset in adulthood v1.9 ABCB7 Louise Daugherty Added phenotypes Anemia, sideroblast with ataxia, 300135 for gene: ABCB7
Hereditary ataxia with onset in adulthood v1.9 AARS Louise Daugherty Added phenotypes CMT 2N 613287; EIEE29, 616339 for gene: AARS
Hereditary ataxia with onset in adulthood v1.9 AAAS Louise Daugherty Added phenotypes Triple A syndrome, 231550 for gene: AAAS
Hereditary ataxia with onset in adulthood v1.8 ZNF592 Louise Daugherty reviewed gene: ZNF592: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 ZFYVE26 Louise Daugherty reviewed gene: ZFYVE26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 XRCC1 Louise Daugherty reviewed gene: XRCC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 WWOX Louise Daugherty reviewed gene: WWOX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 WFS1 Louise Daugherty reviewed gene: WFS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 WDR81 Louise Daugherty reviewed gene: WDR81: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 WDR73 Louise Daugherty reviewed gene: WDR73: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 VRK1 Louise Daugherty reviewed gene: VRK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 VPS53 Louise Daugherty reviewed gene: VPS53: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 VPS13D Louise Daugherty reviewed gene: VPS13D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 VLDLR Louise Daugherty reviewed gene: VLDLR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 VAMP1 Louise Daugherty reviewed gene: VAMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 UCHL1 Louise Daugherty reviewed gene: UCHL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 UBR4 Louise Daugherty reviewed gene: UBR4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 UBA5 Louise Daugherty reviewed gene: UBA5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 TWNK Louise Daugherty reviewed gene: TWNK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 TUBB4A Louise Daugherty edited their review of gene: TUBB4A: Added comment: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. ; Changed rating: AMBER
Hereditary ataxia with onset in adulthood v1.8 TUBB3 Louise Daugherty reviewed gene: TUBB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 TUBB2B Louise Daugherty reviewed gene: TUBB2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 TUBB2A Louise Daugherty reviewed gene: TUBB2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 TUBB Louise Daugherty reviewed gene: TUBB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 TUBA8 Louise Daugherty reviewed gene: TUBA8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 TUBA1A Louise Daugherty reviewed gene: TUBA1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 TTPA Louise Daugherty reviewed gene: TTPA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 TTC19 Louise Daugherty reviewed gene: TTC19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 TTBK2 Louise Daugherty reviewed gene: TTBK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 TSEN54 Louise Daugherty reviewed gene: TSEN54: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 TSEN34 Louise Daugherty reviewed gene: TSEN34: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 TSEN2 Louise Daugherty reviewed gene: TSEN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 TSEN15 Louise Daugherty reviewed gene: TSEN15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 TPP1 Louise Daugherty reviewed gene: TPP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 TOE1 Louise Daugherty reviewed gene: TOE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 TMEM240 Louise Daugherty reviewed gene: TMEM240: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 TMEM106B Louise Daugherty reviewed gene: TMEM106B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 TINF2 Louise Daugherty reviewed gene: TINF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 THG1L Louise Daugherty reviewed gene: THG1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 TGM6 Louise Daugherty reviewed gene: TGM6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 TERT Louise Daugherty reviewed gene: TERT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 TDP1 Louise Daugherty reviewed gene: TDP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 TBC1D23 Louise Daugherty reviewed gene: TBC1D23: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 SYT14 Louise Daugherty reviewed gene: SYT14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 SYNGAP1 Louise Daugherty reviewed gene: SYNGAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 SYNE1 Louise Daugherty reviewed gene: SYNE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 STUB1 Louise Daugherty reviewed gene: STUB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 SRD5A3 Louise Daugherty reviewed gene: SRD5A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 SQSTM1 Louise Daugherty reviewed gene: SQSTM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 SPTBN2 Louise Daugherty reviewed gene: SPTBN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 SPR Louise Daugherty reviewed gene: SPR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 SPG7 Louise Daugherty reviewed gene: SPG7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 SNX14 Louise Daugherty reviewed gene: SNX14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 SMPD4 Louise Daugherty reviewed gene: SMPD4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 SLC9A1 Louise Daugherty reviewed gene: SLC9A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 SLC6A5 Louise Daugherty reviewed gene: SLC6A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 SLC52A2 Louise Daugherty reviewed gene: SLC52A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 SLC39A8 Louise Daugherty reviewed gene: SLC39A8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 SLC2A1 Louise Daugherty reviewed gene: SLC2A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 SLC25A46 Louise Daugherty reviewed gene: SLC25A46: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 SLC25A32 Louise Daugherty reviewed gene: SLC25A32: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 SLC1A3 Louise Daugherty reviewed gene: SLC1A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 SIL1 Louise Daugherty reviewed gene: SIL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 SETX Louise Daugherty reviewed gene: SETX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 SEPSECS Louise Daugherty reviewed gene: SEPSECS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 SCYL1 Louise Daugherty reviewed gene: SCYL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 SCN9A Louise Daugherty reviewed gene: SCN9A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 SCN8A Louise Daugherty reviewed gene: SCN8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 SCN1A Louise Daugherty reviewed gene: SCN1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 SAR1B Louise Daugherty reviewed gene: SAR1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 SAMD9L Louise Daugherty reviewed gene: SAMD9L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 SACS Louise Daugherty reviewed gene: SACS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 RUBCN Louise Daugherty reviewed gene: RUBCN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 RORA Louise Daugherty reviewed gene: RORA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 ROBO3 Louise Daugherty reviewed gene: ROBO3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 RNF216 Louise Daugherty reviewed gene: RNF216: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 RNF170 Louise Daugherty reviewed gene: RNF170: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 RELN Louise Daugherty reviewed gene: RELN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 RARS2 Louise Daugherty reviewed gene: RARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 PUM1 Louise Daugherty reviewed gene: PUM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 PTRH2 Louise Daugherty reviewed gene: PTRH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 PRRT2 Louise Daugherty reviewed gene: PRRT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 PRNP Louise Daugherty reviewed gene: PRNP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 PRKCG Louise Daugherty reviewed gene: PRKCG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 PRICKLE1 Louise Daugherty reviewed gene: PRICKLE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 POLR3A Louise Daugherty reviewed gene: POLR3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 POLG2 Louise Daugherty reviewed gene: POLG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 POLG Louise Daugherty reviewed gene: POLG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 PNPLA6 Louise Daugherty reviewed gene: PNPLA6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 PNKP Louise Daugherty reviewed gene: PNKP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 PNKD Louise Daugherty reviewed gene: PNKD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 PMPCB Louise Daugherty reviewed gene: PMPCB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 PMPCA Louise Daugherty reviewed gene: PMPCA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 PLA2G6 Louise Daugherty reviewed gene: PLA2G6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 PIK3R5 Louise Daugherty reviewed gene: PIK3R5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 PI4KA Louise Daugherty reviewed gene: PI4KA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 PEX6 Louise Daugherty reviewed gene: PEX6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 PEX16 Louise Daugherty reviewed gene: PEX16: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 PDYN Louise Daugherty reviewed gene: PDYN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 PCLO Louise Daugherty reviewed gene: PCLO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 PAX6 Louise Daugherty reviewed gene: PAX6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 PAX2 Louise Daugherty reviewed gene: PAX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 PACS2 Louise Daugherty reviewed gene: PACS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 OPHN1 Louise Daugherty reviewed gene: OPHN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 OPA3 Louise Daugherty reviewed gene: OPA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 OPA1 Louise Daugherty reviewed gene: OPA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 NPC2 Louise Daugherty reviewed gene: NPC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 NPC1 Louise Daugherty reviewed gene: NPC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 NKX6-2 Louise Daugherty reviewed gene: NKX6-2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 NKX2-1 Louise Daugherty reviewed gene: NKX2-1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 NHLRC1 Louise Daugherty reviewed gene: NHLRC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 NAGLU Louise Daugherty reviewed gene: NAGLU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 MTTP Louise Daugherty reviewed gene: MTTP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 MTPAP Louise Daugherty reviewed gene: MTPAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 MT-ATP6 Louise Daugherty reviewed gene: MT-ATP6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 MSTO1 Louise Daugherty reviewed gene: MSTO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 MRE11 Louise Daugherty reviewed gene: MRE11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 MORC2 Louise Daugherty reviewed gene: MORC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 MME Louise Daugherty reviewed gene: MME: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 MMACHC Louise Daugherty reviewed gene: MMACHC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 MFN2 Louise Daugherty reviewed gene: MFN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 MARS2 Louise Daugherty reviewed gene: MARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 MAPK8IP3 Louise Daugherty reviewed gene: MAPK8IP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 LNPK Louise Daugherty reviewed gene: LNPK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 KIF1C Louise Daugherty reviewed gene: KIF1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 KCNQ3 Louise Daugherty reviewed gene: KCNQ3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 KCNQ2 Louise Daugherty reviewed gene: KCNQ2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 KCNK18 Louise Daugherty reviewed gene: KCNK18: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 KCNJ10 Louise Daugherty reviewed gene: KCNJ10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 KCND3 Louise Daugherty reviewed gene: KCND3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 KCNC3 Louise Daugherty reviewed gene: KCNC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 KCNA2 Louise Daugherty reviewed gene: KCNA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 KCNA1 Louise Daugherty reviewed gene: KCNA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 ITPR1 Louise Daugherty reviewed gene: ITPR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 IRF2BPL Louise Daugherty reviewed gene: IRF2BPL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 HTT Louise Daugherty reviewed gene: HTT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 HEXB Louise Daugherty reviewed gene: HEXB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 HEXA Louise Daugherty reviewed gene: HEXA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 GRM1 Louise Daugherty reviewed gene: GRM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 GRID2 Louise Daugherty reviewed gene: GRID2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 GPAA1 Louise Daugherty reviewed gene: GPAA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 GOSR2 Louise Daugherty reviewed gene: GOSR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 GLRB Louise Daugherty reviewed gene: GLRB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 GLRA1 Louise Daugherty reviewed gene: GLRA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 GLI3 Louise Daugherty reviewed gene: GLI3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 GJC2 Louise Daugherty reviewed gene: GJC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 GFAP Louise Daugherty reviewed gene: GFAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 GDAP2 Louise Daugherty reviewed gene: GDAP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 GBA2 Louise Daugherty reviewed gene: GBA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 FXN Louise Daugherty reviewed gene: FXN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 FRMD4A Louise Daugherty reviewed gene: FRMD4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 FOLR1 Louise Daugherty reviewed gene: FOLR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 FMR1 Louise Daugherty reviewed gene: FMR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 FLVCR1 Louise Daugherty reviewed gene: FLVCR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 FGF14 Louise Daugherty reviewed gene: FGF14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 EXOSC9 Louise Daugherty reviewed gene: EXOSC9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 EXOSC8 Louise Daugherty reviewed gene: EXOSC8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 EXOSC3 Louise Daugherty reviewed gene: EXOSC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 EPM2A Louise Daugherty reviewed gene: EPM2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 ELOVL5 Louise Daugherty reviewed gene: ELOVL5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 ELOVL4 Louise Daugherty reviewed gene: ELOVL4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 EIF2B5 Louise Daugherty reviewed gene: EIF2B5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 EIF2B4 Louise Daugherty reviewed gene: EIF2B4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 EIF2B3 Louise Daugherty reviewed gene: EIF2B3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 EIF2B2 Louise Daugherty reviewed gene: EIF2B2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 EIF2B1 Louise Daugherty reviewed gene: EIF2B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 EBF3 Louise Daugherty reviewed gene: EBF3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 DYNC1H1 Louise Daugherty reviewed gene: DYNC1H1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 DNMT1 Louise Daugherty reviewed gene: DNMT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 DNAJC5 Louise Daugherty reviewed gene: DNAJC5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 DNAJC19 Louise Daugherty reviewed gene: DNAJC19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 DMXL2 Louise Daugherty reviewed gene: DMXL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 DDHD2 Louise Daugherty reviewed gene: DDHD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 DCC Louise Daugherty reviewed gene: DCC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 DARS2 Louise Daugherty reviewed gene: DARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 DAB1 Louise Daugherty reviewed gene: DAB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 CYP2U1 Louise Daugherty reviewed gene: CYP2U1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 CYP27A1 Louise Daugherty reviewed gene: CYP27A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 CWF19L1 Louise Daugherty reviewed gene: CWF19L1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 CSTB Louise Daugherty reviewed gene: CSTB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 CP Louise Daugherty reviewed gene: CP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 COX20 Louise Daugherty reviewed gene: COX20: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 COQ8A Louise Daugherty reviewed gene: COQ8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 COG5 Louise Daugherty reviewed gene: COG5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 COASY Louise Daugherty reviewed gene: COASY: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 COA7 Louise Daugherty reviewed gene: COA7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 CLP1 Louise Daugherty reviewed gene: CLP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 CLN6 Louise Daugherty reviewed gene: CLN6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 CLCN2 Louise Daugherty reviewed gene: CLCN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 CHMP1A Louise Daugherty reviewed gene: CHMP1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 CDK5 Louise Daugherty reviewed gene: CDK5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 CCDC88C Louise Daugherty reviewed gene: CCDC88C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 CASK Louise Daugherty reviewed gene: CASK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 CAPN1 Louise Daugherty reviewed gene: CAPN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 CAMTA1 Louise Daugherty reviewed gene: CAMTA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 CACNB4 Louise Daugherty reviewed gene: CACNB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 CACNA1G Louise Daugherty reviewed gene: CACNA1G: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 CACNA1A Louise Daugherty reviewed gene: CACNA1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 CA8 Louise Daugherty reviewed gene: CA8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 BRF1 Louise Daugherty reviewed gene: BRF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 BEAN1 Louise Daugherty reviewed gene: BEAN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 B4GAT1 Louise Daugherty reviewed gene: B4GAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 B3GALNT2 Louise Daugherty reviewed gene: B3GALNT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 ATXN7 Louise Daugherty reviewed gene: ATXN7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 ATXN3 Louise Daugherty reviewed gene: ATXN3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 ATXN2 Louise Daugherty reviewed gene: ATXN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 ATXN10 Louise Daugherty reviewed gene: ATXN10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 ATXN1 Louise Daugherty reviewed gene: ATXN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 ATP8A2 Louise Daugherty reviewed gene: ATP8A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 ATP7B Louise Daugherty reviewed gene: ATP7B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 ATP2B3 Louise Daugherty reviewed gene: ATP2B3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 ATP1A3 Louise Daugherty reviewed gene: ATP1A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 ATP1A2 Louise Daugherty reviewed gene: ATP1A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 ATN1 Louise Daugherty reviewed gene: ATN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 ATM Louise Daugherty reviewed gene: ATM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 ATCAY Louise Daugherty reviewed gene: ATCAY: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 ARSA Louise Daugherty reviewed gene: ARSA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 APTX Louise Daugherty reviewed gene: APTX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 AP1S2 Louise Daugherty reviewed gene: AP1S2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 ANO10 Louise Daugherty reviewed gene: ANO10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 AMPD2 Louise Daugherty reviewed gene: AMPD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 AFG3L2 Louise Daugherty reviewed gene: AFG3L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 ADPRHL2 Louise Daugherty reviewed gene: ADPRHL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 ADGRG1 Louise Daugherty reviewed gene: ADGRG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 ADCY5 Louise Daugherty reviewed gene: ADCY5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 ABHD12 Louise Daugherty reviewed gene: ABHD12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 ABCB7 Louise Daugherty reviewed gene: ABCB7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 AARS Louise Daugherty reviewed gene: AARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 AAAS Louise Daugherty reviewed gene: AAAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.7 ZNF592 Tracy Lester reviewed gene: ZNF592: Rating: RED; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Galloway-Mowat Syndrome 1, 251300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 ZFYVE26 Tracy Lester reviewed gene: ZFYVE26: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Autosomal recessive spastic paraplegia 15, 270700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 XRCC1 Tracy Lester reviewed gene: XRCC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive spinocerebellar ataxia 26, 617633; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 WWOX Tracy Lester reviewed gene: WWOX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Early infantile epileptic encephalopathy 28, 616211, Autosomal recessive spinocerebellar ataxia 12, 6143232; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 WFS1 Tracy Lester reviewed gene: WFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Wolfram syndrome 1, 222300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 WDR81 Tracy Lester reviewed gene: WDR81: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebellar ataxia, mental retardation and dysequilibrium syndrome 2, 610185, Congenital hydrocephalus 3 with brain anomalies, 617967; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 WDR73 Tracy Lester reviewed gene: WDR73: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Galloway-Mowat Syndrome 1, 251300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 VRK1 Tracy Lester reviewed gene: VRK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia 1A, 607596; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 VPS53 Tracy Lester reviewed gene: VPS53: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia 2E, 615851; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 VPS13D Tracy Lester reviewed gene: VPS13D: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive spinocerebellar ataxia 4, 608877; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 VLDLR Tracy Lester reviewed gene: VLDLR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebellar ataxia, mental retardation and dysequilibirum syndrome 1, 224050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 VAMP1 Tracy Lester reviewed gene: VAMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal dominant spastic ataxia 1, 108600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 UCHL1 Tracy Lester reviewed gene: UCHL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive spastic paraplegia 79, 615491; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 UBR4 Tracy Lester reviewed gene: UBR4: Rating: RED; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Episodic ataxia type 8, 616055; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 UBA5 Tracy Lester reviewed gene: UBA5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Early infantile epileptic encephalopathy 44, 617132, Autosomal recessive spinocerebellar ataxia 24, 617133; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 TWNK Tracy Lester reviewed gene: TWNK: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 7, 271245, Perrault syndrome 5, 616138, Progressive external ophthalmoplegia with mitochondrial DNA deletions, 609286; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 TUBB4A Tracy Lester reviewed gene: TUBB4A: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Dystonia 4, 128101, Hypomyelinating leukodystrophy 6, 612438; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 TUBB3 Tracy Lester reviewed gene: TUBB3: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Complex cortical dysplasia with other brain abnormalities 1, 614039; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia with onset in adulthood v1.7 TUBB2B Tracy Lester reviewed gene: TUBB2B: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Complex cortical dysplasia with other brain abnormalities 7, 610031; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia with onset in adulthood v1.7 TUBB2A Tracy Lester reviewed gene: TUBB2A: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Complex cortical dysplasia with other brain malformations 5, 615763; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia with onset in adulthood v1.7 TUBB Tracy Lester reviewed gene: TUBB: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Complex cortical dysplasia with other brain malformations 6, 615771; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia with onset in adulthood v1.7 TUBA8 Tracy Lester reviewed gene: TUBA8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Complex cortical dysplasia with other brain malformations 8, 613180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 TUBA1A Tracy Lester reviewed gene: TUBA1A: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Lissencephaly 3, 611603; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 TTPA Tracy Lester reviewed gene: TTPA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia with isolated vitamin E deficiency, 277460; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 TTC19 Tracy Lester reviewed gene: TTC19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex III deficiency nuclear type II, 615157; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 TTBK2 Tracy Lester reviewed gene: TTBK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 11, 604432; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 TSEN54 Tracy Lester reviewed gene: TSEN54: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia 5, 610204, Pontocerebellar hypoplasia 2A, 277470, Pontocerebellar hypoplasia 4, 225753; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 TSEN34 Tracy Lester reviewed gene: TSEN34: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia 2C, 612390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 TSEN2 Tracy Lester reviewed gene: TSEN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia 2B, 612389; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 TSEN15 Tracy Lester reviewed gene: TSEN15: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia 2F, 617026; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 TPP1 Tracy Lester reviewed gene: TPP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Neuronal ceroid lipofuscinosis, 204500, Autosomal recessive spinocerebellar ataxia 7, 609270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 TOE1 Tracy Lester reviewed gene: TOE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia 7, 614969; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 TMEM240 Tracy Lester reviewed gene: TMEM240: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Spinocerebellar ataxia 21, 607454; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 TMEM106B Tracy Lester reviewed gene: TMEM106B: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Hypomyelinating leukodystrophy 16, 617964; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia with onset in adulthood v1.7 TINF2 Tracy Lester reviewed gene: TINF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal dominant dyskeratosis congenita 3, 613990, Revesz syndrome, 268130; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia with onset in adulthood v1.7 THG1L Tracy Lester reviewed gene: THG1L: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebellar ataxia with developmental delay, Not listed on ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 TGM6 Tracy Lester reviewed gene: TGM6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 35; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 TERT Tracy Lester reviewed gene: TERT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dyskeratosis congenita, 613989; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 TDP1 Tracy Lester reviewed gene: TDP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive spinocerebellar ataxia with axonal neuropathy, 607250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 TBC1D23 Tracy Lester reviewed gene: TBC1D23: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia type 11, 617695; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 SYT14 Tracy Lester reviewed gene: SYT14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive spinocerebellar ataxia 11, 614229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 SYNGAP1 Tracy Lester reviewed gene: SYNGAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal dominant mental retardation 5, 612621; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia with onset in adulthood v1.7 SYNE1 Tracy Lester reviewed gene: SYNE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive spinocerebellar ataxia type 8; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 STUB1 Tracy Lester reviewed gene: STUB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive spinocerebellar ataxia type 16, 615768; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 SRD5A3 Tracy Lester reviewed gene: SRD5A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital disorder of glycosylation type Iq, 612379; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 SQSTM1 Tracy Lester reviewed gene: SQSTM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Neurodegeneration with ataxia, dystonia, and gaze palsy, 617145; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 SPTBN2 Tracy Lester reviewed gene: SPTBN2: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Spinocerebellar ataxia 5, 600224, Autosomal recessive spinocerebellar ataxia 14, 615386; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 SPR Tracy Lester reviewed gene: SPR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dopa-responsive dystonia due to sepiaterin reductase deficiency, 612716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 SPG7 Tracy Lester reviewed gene: SPG7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive spastic paraplegia 7, 607259; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 SNX14 Tracy Lester reviewed gene: SNX14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive spinocerebellar ataxia 20, 616354; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 SMPD4 Tracy Lester reviewed gene: SMPD4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Unknown; Mode of inheritance: Unknown
Hereditary ataxia with onset in adulthood v1.7 SLC9A1 Tracy Lester reviewed gene: SLC9A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Lichtenstein-Knorr Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 SLC6A5 Tracy Lester reviewed gene: SLC6A5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperekplexia 3, 614618; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 SLC52A2 Tracy Lester reviewed gene: SLC52A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Bwon-Vialetto-Van Laere syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 SLC39A8 Tracy Lester reviewed gene: SLC39A8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital disorder of glycosylation type IIN, 616721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 SLC2A1 Tracy Lester reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia 9, 601042, GLUT1 deficiency syndrome 1, 606777, GLUT1 deficiency syndrome 2, 612126; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 SLC25A46 Tracy Lester reviewed gene: SLC25A46: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary motor and sensory neuropathy type VIB, 616505; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 SLC25A32 Tracy Lester reviewed gene: SLC25A32: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Riboflavin-responsive exericise intolerance, 616839; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 SLC1A3 Tracy Lester reviewed gene: SLC1A3: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Episodic ataxia type 6, 612656; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 SIL1 Tracy Lester reviewed gene: SIL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Marinesco-Sjogren syndrome, 248800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 SETX Tracy Lester reviewed gene: SETX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive spinocerebellar ataxia type 1, 606002; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 SEPSECS Tracy Lester reviewed gene: SEPSECS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia type 2D, 613811; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 SCYL1 Tracy Lester reviewed gene: SCYL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 SCN9A Tracy Lester reviewed gene: SCN9A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Multiple; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 SCN8A Tracy Lester reviewed gene: SCN8A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cognitive impairment with or without cerebellar ataxia, 614306, Epileptic encephalopathy 13, 614558, Benign familial infantile seizures 5, 617080; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia with onset in adulthood v1.7 SCN1A Tracy Lester reviewed gene: SCN1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Generalised epilepsy with febrile seizures type 2, 604403, Epileptic encephalopathy 6, 607208, Familial febrile seziures 3A, 604403, Familial hemiplegic migraine 3, 609634; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia with onset in adulthood v1.7 SAR1B Tracy Lester reviewed gene: SAR1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Chylomicron retention disease, 246700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia with onset in adulthood v1.7 SAMD9L Tracy Lester reviewed gene: SAMD9L: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Ataxia-pancytopenia syndrome, 159550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia with onset in adulthood v1.7 SACS Tracy Lester reviewed gene: SACS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Charlevoix-Saguenay spastic ataxia, 270550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 RUBCN Tracy Lester reviewed gene: RUBCN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive spinocerebellar ataxia 15, 615705; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 RORA Tracy Lester reviewed gene: RORA: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia with onset in adulthood v1.7 ROBO3 Tracy Lester reviewed gene: ROBO3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Familial horizontal gaze palsy with progressive scoliosis, 607313; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 RNF216 Tracy Lester reviewed gene: RNF216: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebellar ataxia and hypogonadotrophic hypogonadism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 RNF170 Tracy Lester reviewed gene: RNF170: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Autosomal dominant sensory ataxia 1, 608984; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 RELN Tracy Lester reviewed gene: RELN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Lissencephaly 2, 257320; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 RARS2 Tracy Lester reviewed gene: RARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia 6, 611523; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 PUM1 Tracy Lester reviewed gene: PUM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 47, 617931; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia with onset in adulthood v1.7 PTRH2 Tracy Lester reviewed gene: PTRH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Infantile multi-system neurologic, endocrine, and pancreatic disease, 616263; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 PRRT2 Tracy Lester reviewed gene: PRRT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Familial infantile convulsions with paroxysmal dyskinesia 1, 602066, episodic kinesigenic dyskinesia, 128200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 PRNP Tracy Lester reviewed gene: PRNP: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Multiple allelic disorders reported; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia with onset in adulthood v1.7 PRKCG Tracy Lester reviewed gene: PRKCG: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Spincocerebellar ataxia 14, 605361; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 PRICKLE1 Tracy Lester reviewed gene: PRICKLE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Progressive myoclonic epilepsy 1B, 612437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 POLR3A Tracy Lester reviewed gene: POLR3A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypomyelinating leukodystrophy 7 with or without oligodontia and/or hypogonadotrophic hypogonadism, 607694; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 POLG2 Tracy Lester reviewed gene: POLG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 610131; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 POLG Tracy Lester reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Mitochondrial DNA depletion types 4A, 203700 and 4B, 613662, Mitochondrial recessive ataxia syndrome, 607459, autosomal dominant progressive external ophthalmoplegia, 157640 and autosomal recessive progressive external opthalmoplegia, 258450; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 PNPLA6 Tracy Lester reviewed gene: PNPLA6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Boucher-Neuhauser syndrome, 215470, Oliver-McFarlane syndrome, 275400, Sapstic paraplegia 39, 612020; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 PNKP Tracy Lester reviewed gene: PNKP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia-oculomotor apraxia 4, 616267, Microcephaly, seizures and developmental delay, 613402; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 PNKD Tracy Lester reviewed gene: PNKD: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Paroxysmal nonkinesigenic dyskinesia 1, 118800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia with onset in adulthood v1.7 PMPCB Tracy Lester reviewed gene: PMPCB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Multiple mitochondrial dysfunctions syndrome 6, 617954; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 PMPCA Tracy Lester reviewed gene: PMPCA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive spinocerebellar ataxia 2, 213200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 PLA2G6 Tracy Lester reviewed gene: PLA2G6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Infantile neuroaxonal dystrophy 1, 256600, Neurodegeneration with brain iron accumulation 2B, 610217, Autosomal recessive Parkinson disease 14, 612953; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 PIK3R5 Tracy Lester reviewed gene: PIK3R5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia-oculomotor apraxia 3, 615217; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 PI4KA Tracy Lester reviewed gene: PI4KA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Polymicrogyria, perisylvian with cerebellar hypoplasia and arthrogryposis, 616531; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 PEX6 Tracy Lester reviewed gene: PEX6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 4A, 614862 and 4B, 614863; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 PEX16 Tracy Lester reviewed gene: PEX16: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 8A, 614876 and 8B, 614877; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 PDYN Tracy Lester reviewed gene: PDYN: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Spinocerebellar ataxia 23, 610245; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 PCLO Tracy Lester reviewed gene: PCLO: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia type 3, 608027; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 PAX6 Tracy Lester reviewed gene: PAX6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Aniridia, 106210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia with onset in adulthood v1.7 PAX2 Tracy Lester reviewed gene: PAX2: Rating: RED; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Papillorenal syndrome, AR; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia with onset in adulthood v1.7 PACS2 Tracy Lester reviewed gene: PACS2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Early infantile epileptic encephalopathy 66, 618067; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia with onset in adulthood v1.7 OPHN1 Tracy Lester reviewed gene: OPHN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance, 300486; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 OPA3 Tracy Lester reviewed gene: OPA3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 3-methylglutaconic aciduria type III, 258501, Optic atrophy 3 with cataract, 165300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 OPA1 Tracy Lester reviewed gene: OPA1: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Optic atrophy 1, 165500, Optic atrophy plus syndrome, 125250, Behr syndrome, 210000; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 NPC2 Tracy Lester reviewed gene: NPC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Niemann-Pick disease type C2, 607625; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 NPC1 Tracy Lester reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Niemann-Pick disease type C1, 257220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 NKX6-2 Tracy Lester reviewed gene: NKX6-2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive spastic ataxia 8 with hypomyelinating leukodystrophy, 617560; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 NKX2-1 Tracy Lester reviewed gene: NKX2-1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary bening chorea, 118700, Choreoathetosis, hypothyroidism and neonatal respiratory distress, 610978; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 NHLRC1 Tracy Lester reviewed gene: NHLRC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Progressive myoclonic epilepsy 2B, Lafora, 254780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 NAGLU Tracy Lester reviewed gene: NAGLU: Rating: RED; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: CMT axon type 2V, 616491; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia with onset in adulthood v1.7 MTTP Tracy Lester reviewed gene: MTTP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Abetalipoproteinemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 MTPAP Tracy Lester reviewed gene: MTPAP: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Autosomal recessive spastic ataxia 4, 613672; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 MT-ATP6 Tracy Lester reviewed gene: MT-ATP6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Neuropathy, ataxia and retinitis pigmentosa, NARP, 551500; Mode of inheritance: MITOCHONDRIAL; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 MSTO1 Tracy Lester reviewed gene: MSTO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial myopathy and ataxia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 MRE11 Tracy Lester reviewed gene: MRE11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia-telangiectasia-like disorder 1, 604391; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 MORC2 Tracy Lester reviewed gene: MORC2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Axonal type CMT disease type 2Z, 616688; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia with onset in adulthood v1.7 MME Tracy Lester reviewed gene: MME: Rating: RED; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Spinocerebellar ataxia type 43, 617018; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia with onset in adulthood v1.7 MMACHC Tracy Lester reviewed gene: MMACHC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Methylmalonic aciduria and homocystinuria cblC type, 277400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 MFN2 Tracy Lester reviewed gene: MFN2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Dominant optic atrophy plus, not listed in ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 MARS2 Tracy Lester reviewed gene: MARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive spastic ataxia 3, 611390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 MAPK8IP3 Tracy Lester reviewed gene: MAPK8IP3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ID with variable brain anomalies, not included in ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia with onset in adulthood v1.7 LNPK Tracy Lester reviewed gene: LNPK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Neurodevelopmental disorder with epilepsy and hypoplasia or the corpus callosum; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 KIF1C Tracy Lester reviewed gene: KIF1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive spastic ataxia 2, 611302; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 KCNQ3 Tracy Lester reviewed gene: KCNQ3: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Benign neonatal seizures 2, 121201; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia with onset in adulthood v1.7 KCNQ2 Tracy Lester reviewed gene: KCNQ2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Early infantile encephalopathy 7, 613720; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia with onset in adulthood v1.7 KCNK18 Tracy Lester reviewed gene: KCNK18: Rating: RED; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Susceptibility to migraine with/without arua 13, 613656; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia with onset in adulthood v1.7 KCNJ10 Tracy Lester reviewed gene: KCNJ10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SESAME syndrome, 612780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 KCND3 Tracy Lester reviewed gene: KCND3: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Spinocerebellar ataxia 19, 607346; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 KCNC3 Tracy Lester reviewed gene: KCNC3: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Spinocerebellar ataxia 13, 605259; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 KCNA2 Tracy Lester reviewed gene: KCNA2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Early infantile encephalopathy 32, 616366 ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia with onset in adulthood v1.7 KCNA1 Tracy Lester reviewed gene: KCNA1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Episodic ataxia/myokymia syndrome, 160120; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 ITPR1 Tracy Lester reviewed gene: ITPR1: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Gillespie syndrome, 206700, Spinocerebellar ataxia 15, 606658, Spinocerebellar ataxia 29, 117360; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 IRF2BPL Tracy Lester reviewed gene: IRF2BPL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Neurodevelopmental disorder with regression, abnormal movement, loss of speech and seizures, 618088; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia with onset in adulthood v1.7 HTT Tracy Lester reviewed gene: HTT: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Huntington disease, 143100, 617432; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 HEXB Tracy Lester reviewed gene: HEXB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Sandhoff disease, 268800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 HEXA Tracy Lester reviewed gene: HEXA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Tay-Sachs disease, 272800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 GRM1 Tracy Lester reviewed gene: GRM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 44, 617691, autosomal recessive spinocerebellar ataxia type 13, 614831; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 GRID2 Tracy Lester reviewed gene: GRID2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 18, 616204; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 GPAA1 Tracy Lester reviewed gene: GPAA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 15, 617810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 GOSR2 Tracy Lester reviewed gene: GOSR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Progressive myoclonic epilepsy 6, 614018; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 GLRB Tracy Lester reviewed gene: GLRB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperekplexia 2, 614619; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 GLRA1 Tracy Lester reviewed gene: GLRA1: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Hyperekplexia 1, 149400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 GLI3 Tracy Lester reviewed gene: GLI3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Greig syndrome, 175700, Pallister-Hall syndrome, 146510, Polydactyly types A1/B, 174200, Polydactyly type IV, 174700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia with onset in adulthood v1.7 GJC2 Tracy Lester reviewed gene: GJC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypomyelinating leukodystrophy 2, 608804, Spastic paraplegia 44, 613206; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 GFAP Tracy Lester reviewed gene: GFAP: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Alexander disease, 203450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia with onset in adulthood v1.7 GDAP2 Tracy Lester reviewed gene: GDAP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive spinocerebellar ataxia, not listed in ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 GBA2 Tracy Lester reviewed gene: GBA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 46, 614409; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 FXN Tracy Lester reviewed gene: FXN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Friedreich ataxia, 229300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 FRMD4A Tracy Lester reviewed gene: FRMD4A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Agenesis of corpus callosum with facial anomalies and cerebellar ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 FOLR1 Tracy Lester reviewed gene: FOLR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Neurodegeneration due to cerebral folate transport deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 FMR1 Tracy Lester reviewed gene: FMR1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Fragile X tremor/ataxia syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 FLVCR1 Tracy Lester reviewed gene: FLVCR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Posterior column ataxia with retinitis pigmentosa, 609033; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 FGF14 Tracy Lester reviewed gene: FGF14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia type 27, 609307; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 EXOSC9 Tracy Lester reviewed gene: EXOSC9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia type 1D, 618065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 EXOSC8 Tracy Lester reviewed gene: EXOSC8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia type 1C; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 EXOSC3 Tracy Lester reviewed gene: EXOSC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia type 1B, 614678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 EPM2A Tracy Lester reviewed gene: EPM2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Progressive myoclonic epilepsy 2A, Lafora, 254780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 ELOVL5 Tracy Lester reviewed gene: ELOVL5: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Spinocerebellar ataxia 38, 615957; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 ELOVL4 Tracy Lester reviewed gene: ELOVL4: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Spinocerebellar ataxia 34, 133190; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia with onset in adulthood v1.7 EIF2B5 Tracy Lester reviewed gene: EIF2B5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukoencephalopathy with vanishing white matter, 603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 EIF2B4 Tracy Lester reviewed gene: EIF2B4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukoencephalopathy with vanishing white matter, 603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 EIF2B3 Tracy Lester reviewed gene: EIF2B3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukoencephalopathy with vanishing white matter, 603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 EIF2B2 Tracy Lester reviewed gene: EIF2B2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukoencephalopathy with vanishing white matter, 603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 EIF2B1 Tracy Lester reviewed gene: EIF2B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukoencephalopathy with vanishing white matter, 603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 EBF3 Tracy Lester reviewed gene: EBF3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypotonia, ataxia and delayed development syndrome, 617330; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia with onset in adulthood v1.7 DYNC1H1 Tracy Lester reviewed gene: DYNC1H1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Autosomal dominant MR 13, 614563 most relevant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia with onset in adulthood v1.7 DNMT1 Tracy Lester reviewed gene: DNMT1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Cerebellar ataxia, deafness and narcolepsy, 604121, Hereditary sensory neuropathy type IE, 614116; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 DNAJC5 Tracy Lester reviewed gene: DNAJC5: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Ceroid neuronal lipofuscinosis 4, Parry type, 162350; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia with onset in adulthood v1.7 DNAJC19 Tracy Lester reviewed gene: DNAJC19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 3-methylglutaconic aciduria type V, 610198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 DMXL2 Tracy Lester reviewed gene: DMXL2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Polyendocrine-polyneuropathy syndrome, 616113; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 DDHD2 Tracy Lester reviewed gene: DDHD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 54; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 DCC Tracy Lester reviewed gene: DCC: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mirror movements 1 and/or agenesis of the corpus callosum; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia with onset in adulthood v1.7 DARS2 Tracy Lester reviewed gene: DARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 DAB1 Tracy Lester reviewed gene: DAB1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Spinocerebellar ataxia 37, 615945; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia with onset in adulthood v1.7 CYP2U1 Tracy Lester reviewed gene: CYP2U1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia type 56, 615030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 CYP27A1 Tracy Lester reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebrotendinous xanthomatosis, 213700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 CWF19L1 Tracy Lester reviewed gene: CWF19L1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive spinocerebellar ataxia type 17, 616127; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 CSTB Tracy Lester reviewed gene: CSTB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Progressive myoclonic epilepsy 1A, 254800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 CP Tracy Lester reviewed gene: CP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Aceruloplasminemia, 604290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 COX20 Tracy Lester reviewed gene: COX20: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex IV deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 COQ8A Tracy Lester reviewed gene: COQ8A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Primary coenzyme Q10 deficiency 4, 612016; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 COG5 Tracy Lester reviewed gene: COG5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital disorder of glycosylation type 2i, 613612; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 COASY Tracy Lester reviewed gene: COASY: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Neurodegeneration with brain iron accumulation 6, 615643, Pontocerebellar hypoplasia type 12, 618266; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 COA7 Tracy Lester reviewed gene: COA7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia with axonal neuropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 CLP1 Tracy Lester reviewed gene: CLP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia type 10, 615803; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 CLN6 Tracy Lester reviewed gene: CLN6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ceroid neuronal lipofuscinosis 6, 601780 and Ceroid neuronal lipofuscinosis kufs type, 204300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 CLCN2 Tracy Lester reviewed gene: CLCN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukoencephalopathy with ataxia, 615651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 CHMP1A Tracy Lester reviewed gene: CHMP1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia type 8, 614961; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 CDK5 Tracy Lester reviewed gene: CDK5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Lissencephaly 7 with cerebellar hypoplasia, 616342; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 CCDC88C Tracy Lester reviewed gene: CCDC88C: Rating: RED; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Spinocerebellar ataxia 40, 616053; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 CASK Tracy Lester reviewed gene: CASK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749, FG syndrome 4, 300422; 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
Hereditary ataxia with onset in adulthood v1.7 CAPN1 Tracy Lester reviewed gene: CAPN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia type 76, 616907; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 CAMTA1 Tracy Lester reviewed gene: CAMTA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebellar ataxia with mental retardation, 614756; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia with onset in adulthood v1.7 CACNB4 Tracy Lester reviewed gene: CACNB4: Rating: RED; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Episodic ataxia type 5, 613855; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 CACNA1G Tracy Lester reviewed gene: CACNA1G: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Spinocerebellar ataxia 42, 616795 and early-onset SCA42 with neurodevelopmental deficits, 618087; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia with onset in adulthood v1.7 CACNA1A Tracy Lester reviewed gene: CACNA1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Episodic ataxia type 2, 108500, Familial hemiplegic migraine 1, 141500, SCA6, 183086; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 CA8 Tracy Lester reviewed gene: CA8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 BRF1 Tracy Lester reviewed gene: BRF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebrofaciodental syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 BEAN1 Tracy Lester reviewed gene: BEAN1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Spinocerebellar ataxia 31, 117210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia with onset in adulthood v1.7 B4GAT1 Tracy Lester reviewed gene: B4GAT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy type A13, 615287; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 B3GALNT2 Tracy Lester reviewed gene: B3GALNT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy type A11, 615181; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 ATXN7 Tracy Lester reviewed gene: ATXN7: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Spinocerebellar ataxia 7, 164500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia with onset in adulthood v1.7 ATXN3 Tracy Lester reviewed gene: ATXN3: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Machado-Joseph disease, 109150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia with onset in adulthood v1.7 ATXN2 Tracy Lester reviewed gene: ATXN2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Spinocerebellar ataxia 2, 183090; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia with onset in adulthood v1.7 ATXN10 Tracy Lester reviewed gene: ATXN10: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Spinocerebellar ataxia 10, 603516; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia with onset in adulthood v1.7 ATXN1 Tracy Lester reviewed gene: ATXN1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Spinocerebellar ataxia 1, 164400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia with onset in adulthood v1.7 ATP8A2 Tracy Lester reviewed gene: ATP8A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebellar ataxia, mental retardation and dysequilibirum syndrome 4; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 ATP7B Tracy Lester reviewed gene: ATP7B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Wilson disease, 277900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 ATP2B3 Tracy Lester reviewed gene: ATP2B3: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: X-linked spinocerebellar ataxia, 302500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hereditary ataxia with onset in adulthood v1.7 ATP1A3 Tracy Lester reviewed gene: ATP1A3: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Alternating hemiplegia of childhood 2, 614820, CAPOS syndrome, 601338, Dystonia-12, 128235; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 ATP1A2 Tracy Lester reviewed gene: ATP1A2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Alternating hemiplegia of childhood 1, 104290, Familial hemiplegic migraine 2, 602481; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia with onset in adulthood v1.7 ATN1 Tracy Lester reviewed gene: ATN1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Dentato-pallidoluysian atrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia with onset in adulthood v1.7 ATM Tracy Lester reviewed gene: ATM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia-telangiectasia, 607585; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 ATCAY Tracy Lester reviewed gene: ATCAY: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cayman Ataxia, 601238; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 ARSA Tracy Lester reviewed gene: ARSA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Metachromatic Leukodystrophy, 250100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 APTX Tracy Lester reviewed gene: APTX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Early onset ataxia with oculomotor apraxia and hypoalbuminemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 AP1S2 Tracy Lester reviewed gene: AP1S2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mental retardation, X-linked syndromic 5, Pettigrew syndrome, 304340; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 ANO10 Tracy Lester reviewed gene: ANO10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia autosomal recessive type 10, 613728; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 AMPD2 Tracy Lester reviewed gene: AMPD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hyoplasia 9, 615809; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 AFG3L2 Tracy Lester reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 28, 610246 and spastic ataxia 5, 614487; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 ADPRHL2 Tracy Lester reviewed gene: ADPRHL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Neurodegeneration, childhood-onset, stress-induced with variable ataxia and seizures, 618170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 ADGRG1 Tracy Lester reviewed gene: ADGRG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Polymicrogyria, Frontoparietal and perisylvian types, 606854, 615752; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.7 ADCY5 Tracy Lester reviewed gene: ADCY5: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Dyskinesia with facial myokymia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia with onset in adulthood v1.7 ABHD12 Tracy Lester reviewed gene: ABHD12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataract, 612674; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 ABCB7 Tracy Lester reviewed gene: ABCB7: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Anemia, sideroblast with ataxia, 300135; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 AARS Tracy Lester reviewed gene: AARS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: CMT 2N 613287, EIEE29, 616339; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 AAAS Tracy Lester reviewed gene: AAAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Triple A syndrome, 231550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Structural eye disease v0.11 ABCB6 Ivone Leong Phenotypes for gene: ABCB6 were changed from Microphthalmia, isolated, with coloboma 7, 614497[Blood group, Langereis system], 111600Dyschromatosis universalis hereditaria 3, 615402 to Microphthalmia, isolated, with coloboma 7, 614497; [Blood group, Langereis system], 111600; Dyschromatosis universalis hereditaria 3, 615402
Intellectual disability v2.800 CACNA1B Konstantinos Varvagiannis gene: CACNA1B was added
gene: CACNA1B was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: CACNA1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CACNA1B were set to Global developmental delay; Developmental regression; Seizures; Intellectual disability; Abnormality of movement
Penetrance for gene: CACNA1B were set to Complete
Review for gene: CACNA1B was set to GREEN
Added comment: Gorman et al. (2019 - doi.org/10.1016/j.ajhg.2019.03.005) report on 6 individuals from 3 unrelated families, with biallelic LoF CACNA1B variants. The phenotype corresponds to a developmental epilepic encephalopathy with hyperkinetic movement disorder (ID was a universal feature, DD and/or regression occurred prior to the onset of seizures in several individuals) .

CACNA1B encodes calcium channel, voltage-dependent N type, α-1B subunit (Ca v2.2). As commented by the authors, Ca v2.1 and v2.2 are important for SNARE-mediated release of neurotransmitters through modulation of Ca+2 levels. In addition, Ca v2.2 has been postulated to have a role in synaptic plasticity, synaptogenesis, migration of immature neurons, etc. It is thought to have a crucial role in neurotransmission in the early postnatal period (Ca v2.2 channels are subsequently replaced by Ca v2.1 in mature synapses within the thalamus, cerebellum and auditory brainstem). Knockout mice display neurodevelopmental abnormalities including impaired locomotor activity and memory impairment (all ref. cited within the article).

3 sibs, born to 1st cousin parents, harbored p.Leu1222Argfs*29 (NM_000718.4:c.3665del) in the homozygous state. One additional individual was homozygous for p.Arg383*. Compound heterozygosity for a frameshift and a splicing variant (p,Gly1192Cysfs* and c.4857+1G>C) was identified in 2 sibs from a 3rd family.

Expression/functional studies have not been performed for any of the variants reported.

In OMIM, monoallelic CACNA1B pathogenic variants are associated with ?Dystonia 23 (MIM 614860) based on the identification of a heterozygous missense (R1389H) mutation in members of a Dutch with myoclonus-dystonia syndrome (Groen et al. 2015 - PMID: 25296916).

As a result, this gene can be considered for inclusion in the epilepsy and ID panels as green (or amber).
Sources: Literature
Early onset or syndromic epilepsy v1.35 CACNA1B Konstantinos Varvagiannis gene: CACNA1B was added
gene: CACNA1B was added to Genetic epilepsy syndromes. Sources: Literature
Mode of inheritance for gene: CACNA1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CACNA1B were set to Global developmental delay; Developmental regression; Seizures; Intellectual disability; Abnormality of movement
Penetrance for gene: CACNA1B were set to Complete
Review for gene: CACNA1B was set to GREEN
Added comment: Gorman et al. (2019 - doi.org/10.1016/j.ajhg.2019.03.005) report on 6 individuals from 3 unrelated families, with biallelic LoF CACNA1B variants. The phenotype corresponds to a developmental epilepic encephalopathy with hyperkinetic movement disorder (ID was a universal feature, DD and/or regression occurred prior to the onset of seizures in several individuals) .

CACNA1B encodes calcium channel, voltage-dependent N type, α-1B subunit (Ca v2.2). As commented by the authors, Ca v2.1 and v2.2 are important for SNARE-mediated release of neurotransmitters through modulation of Ca+2 levels. In addition, Ca v2.2 has been postulated to have a role in synaptic plasticity, synaptogenesis, migration of immature neurons, etc. It is thought to have a crucial role in neurotransmission in the early postnatal period (Ca v2.2 channels are subsequently replaced by Ca v2.1 in mature synapses within the thalamus, cerebellum and auditory brainstem). Knockout mice display neurodevelopmental abnormalities including impaired locomotor activity and memory impairment (all ref. cited within the article).

3 sibs, born to 1st cousin parents, harbored p.Leu1222Argfs*29 (NM_000718.4:c.3665del) in the homozygous state. One additional individual was homozygous for p.Arg383*. Compound heterozygosity for a frameshift and a splicing variant (p,Gly1192Cysfs* and c.4857+1G>C) was identified in 2 sibs from a 3rd family.

Expression/functional studies have not been performed for any of the variants reported.

In OMIM, monoallelic CACNA1B are associated with ?Dystonia 23 (MIM 614860) based on the identification of a heterozygous missense (R1389H) mutation in members of a Dutch with myoclonus-dystonia syndrome (Groen et al. 2015 - PMID: 25296916).

As a result, this gene can be considered for inclusion in the epilepsy and ID panels as green (or amber).
Sources: Literature
Intellectual disability v2.800 DOCK3 Konstantinos Varvagiannis reviewed gene: DOCK3: Rating: AMBER; Mode of pathogenicity: None; Publications: 30976111, 28195318, 29130632; Phenotypes: Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, 618292; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Cerebral vascular malformations v1.36 MYH11 Andrey Gagunashvili gene: MYH11 was added
gene: MYH11 was added to Cerebral vascular malformations. Sources: Literature
Mode of inheritance for gene: MYH11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MYH11 were set to 29263223; 16444274
Phenotypes for gene: MYH11 were set to moyamoya-like angiopathy
Penetrance for gene: MYH11 were set to unknown
Review for gene: MYH11 was set to RED
Added comment: Sources: Literature
Intellectual disability v2.800 BCORL1 Konstantinos Varvagiannis reviewed gene: BCORL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 24123876, 30941876; Phenotypes: Global developmental delay, Intellectual disability, Autism, Behavioral abnormality; 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
Cerebral vascular malformations v1.36 CBL Andrey Gagunashvili gene: CBL was added
gene: CBL was added to Cerebral vascular malformations. Sources: Literature,Research
Mode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CBL were set to 28343148; 25283271
Phenotypes for gene: CBL were set to early-onset moyamoya angiopathy
Penetrance for gene: CBL were set to Complete
Mode of pathogenicity for gene: CBL 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: CBL was set to GREEN
Added comment: The addition of the CBL gene is supported by two publication as well as personal observations of the submitter
Sources: Literature, Research
Hereditary ataxia with onset in adulthood v1.6 TBP_CAG Louise Daugherty commented on STR: TBP_CAG: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of GMS Neurology specialist test group. Comment: Associated with CAG expansions. Requires STR calling - no evidence for SNVs. Note that median onset described as 23 in OMIM so 'childhood' onset possible. Do you report variants in this gene as part of your current diagnostic practice? No
Hereditary ataxia with onset in adulthood v1.6 PPP2R2B_CAG Louise Daugherty commented on STR: PPP2R2B_CAG: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of GMS Neurology specialist test group. Comment: Associated with CAG expanions, no evidence for SNVs - requires STR calling. Do you report variants in this gene as part of your current diagnostic practice? No
Hereditary ataxia with onset in adulthood v1.6 NOP56_GGCCTG Louise Daugherty commented on STR: NOP56_GGCCTG: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of GMS Neurology specialist test group. Comment: Multiple reports in the lit - requires STR reporting, no evidence for SNVs. Do you report variants in this gene as part of your current diagnostic practice? No
Hereditary ataxia with onset in adulthood v1.6 FXN_GAA Louise Daugherty commented on STR: FXN_GAA: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of GMS Neurology specialist test group. Comment: Needs care with filtering here - SNVs in compound het with expansion can be pathogenic. Needs availability of a mixed STR/SNV model for inheritance OR no filtering of single LoF variants. Do you report variants in this gene as part of your current diagnostic practice? No
Hereditary ataxia with onset in adulthood v1.6 ISCA-37404-Loss Louise Daugherty edited their review of Region: ISCA-37404-Loss: Changed phenotypes: Angelman syndrome (OMIM 105830) and Prader-Willi syndrome (OMIM 176270)
Hereditary ataxia with onset in adulthood v1.6 ISCA-37478-Gain Louise Daugherty reviewed Region: ISCA-37478-Gain: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 15q duplication syndrome; Mode of inheritance: None
Hereditary ataxia with onset in adulthood v1.6 ISCA-37468-Loss Louise Daugherty reviewed Region: ISCA-37468-Loss: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary ataxia with onset in adulthood v1.6 ISCA-37404-Loss Louise Daugherty reviewed Region: ISCA-37404-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary ataxia with onset in adulthood v1.6 ISCA-37478-Gain Louise Daugherty Source NHS GMS was added to Region: ISCA-37478-Gain.
Hereditary ataxia with onset in adulthood v1.6 ISCA-37468-Loss Louise Daugherty Source NHS GMS was added to Region: ISCA-37468-Loss.
Hereditary ataxia with onset in adulthood v1.6 ISCA-37404-Loss Louise Daugherty Source NHS GMS was added to Region: ISCA-37404-Loss.
Hereditary ataxia with onset in adulthood v1.5 ISCA-37478-Gain Louise Daugherty Source Wessex and West Midlands GLH was added to Region: ISCA-37478-Gain.
Publications for Region: ISCA-37478-Gain were changed from 18374305; 9106540; 16840569 to 16840569; 18374305; 9106540
Hereditary ataxia with onset in adulthood v1.5 ISCA-37468-Loss Louise Daugherty Source Wessex and West Midlands GLH was added to Region: ISCA-37468-Loss.
Added phenotypes hypotonia; episodes of sudden loss of muscle tone; short stature; severe intellectual disability; autistic features; eleveated serotonin levels; exiting behavior; lip-smacking; stereotypical hand movements for Region: ISCA-37468-Loss
Publications for Region: ISCA-37468-Loss were changed from 20485326; 22365943; 23414621 to 23414621; 20485326; 22365943
Hereditary ataxia with onset in adulthood v1.5 ISCA-37404-Loss Louise Daugherty Source Wessex and West Midlands GLH was added to Region: ISCA-37404-Loss.
Added phenotypes 105831; Angelman syndrome; Developmental delay, muscle weakness; Mental retardation; 176270; microcephaly; Prader-Willi syndrome for Region: ISCA-37404-Loss
Publications for Region: ISCA-37404-Loss were changed from 22045295; 7611294 to 7611294; 22045295
Hereditary ataxia with onset in adulthood v1.4 TBP_CAG Louise Daugherty Source Wessex and West Midlands GLH was added to STR: TBP_CAG.
Hereditary ataxia with onset in adulthood v1.4 PPP2R2B_CAG Louise Daugherty Source Wessex and West Midlands GLH was added to STR: PPP2R2B_CAG.
Hereditary ataxia with onset in adulthood v1.4 NOP56_GGCCTG Louise Daugherty Source Wessex and West Midlands GLH was added to STR: NOP56_GGCCTG.
Hereditary ataxia with onset in adulthood v1.4 FXN_GAA Louise Daugherty Source Wessex and West Midlands GLH was added to STR: FXN_GAA.
Hereditary ataxia with onset in adulthood v1.3 TBP_CAG Louise Daugherty Source NHS GMS was added to STR: TBP_CAG.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary ataxia with onset in adulthood v1.3 PPP2R2B_CAG Louise Daugherty Source NHS GMS was added to STR: PPP2R2B_CAG.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary ataxia with onset in adulthood v1.3 NOP56_GGCCTG Louise Daugherty Source NHS GMS was added to STR: NOP56_GGCCTG.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary ataxia with onset in adulthood v1.3 FXN_GAA Louise Daugherty Source NHS GMS was added to STR: FXN_GAA.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary ataxia with onset in adulthood v1.2 ZNF592 Louise Daugherty Source NHS GMS was added to ZNF592.
Hereditary ataxia with onset in adulthood v1.2 ZFYVE26 Louise Daugherty Source NHS GMS was added to ZFYVE26.
Hereditary ataxia with onset in adulthood v1.2 XRCC1 Louise Daugherty Source NHS GMS was added to XRCC1.
Hereditary ataxia with onset in adulthood v1.2 WWOX Louise Daugherty Source NHS GMS was added to WWOX.
Hereditary ataxia with onset in adulthood v1.2 WFS1 Louise Daugherty Source NHS GMS was added to WFS1.
Hereditary ataxia with onset in adulthood v1.2 WDR81 Louise Daugherty Source NHS GMS was added to WDR81.
Hereditary ataxia with onset in adulthood v1.2 WDR73 Louise Daugherty Source NHS GMS was added to WDR73.
Hereditary ataxia with onset in adulthood v1.2 VRK1 Louise Daugherty Source NHS GMS was added to VRK1.
Hereditary ataxia with onset in adulthood v1.2 VPS53 Louise Daugherty Source NHS GMS was added to VPS53.
Hereditary ataxia with onset in adulthood v1.2 VPS13D Louise Daugherty Source NHS GMS was added to VPS13D.
Hereditary ataxia with onset in adulthood v1.2 VLDLR Louise Daugherty Source NHS GMS was added to VLDLR.
Hereditary ataxia with onset in adulthood v1.2 VAMP1 Louise Daugherty Source NHS GMS was added to VAMP1.
Hereditary ataxia with onset in adulthood v1.2 UCHL1 Louise Daugherty Source NHS GMS was added to UCHL1.
Hereditary ataxia with onset in adulthood v1.2 UBR4 Louise Daugherty Source NHS GMS was added to UBR4.
Hereditary ataxia with onset in adulthood v1.2 UBA5 Louise Daugherty Source NHS GMS was added to UBA5.
Hereditary ataxia with onset in adulthood v1.2 TWNK Louise Daugherty Source NHS GMS was added to TWNK.
Hereditary ataxia with onset in adulthood v1.2 TUBB4A Louise Daugherty Source NHS GMS was added to TUBB4A.
Hereditary ataxia with onset in adulthood v1.2 TUBB3 Louise Daugherty Source NHS GMS was added to TUBB3.
Hereditary ataxia with onset in adulthood v1.2 TUBB2B Louise Daugherty Source NHS GMS was added to TUBB2B.
Hereditary ataxia with onset in adulthood v1.2 TUBB2A Louise Daugherty Source NHS GMS was added to TUBB2A.
Hereditary ataxia with onset in adulthood v1.2 TUBB Louise Daugherty Source NHS GMS was added to TUBB.
Hereditary ataxia with onset in adulthood v1.2 TUBA8 Louise Daugherty Source NHS GMS was added to TUBA8.
Hereditary ataxia with onset in adulthood v1.2 TUBA1A Louise Daugherty Source NHS GMS was added to TUBA1A.
Hereditary ataxia with onset in adulthood v1.2 TTPA Louise Daugherty Source NHS GMS was added to TTPA.
Hereditary ataxia with onset in adulthood v1.2 TTC19 Louise Daugherty Source NHS GMS was added to TTC19.
Hereditary ataxia with onset in adulthood v1.2 TTBK2 Louise Daugherty Source NHS GMS was added to TTBK2.
Hereditary ataxia with onset in adulthood v1.2 TSEN54 Louise Daugherty Source NHS GMS was added to TSEN54.
Hereditary ataxia with onset in adulthood v1.2 TSEN34 Louise Daugherty Source NHS GMS was added to TSEN34.
Hereditary ataxia with onset in adulthood v1.2 TSEN2 Louise Daugherty Source NHS GMS was added to TSEN2.
Hereditary ataxia with onset in adulthood v1.2 TSEN15 Louise Daugherty Source NHS GMS was added to TSEN15.
Hereditary ataxia with onset in adulthood v1.2 TPP1 Louise Daugherty Source NHS GMS was added to TPP1.
Hereditary ataxia with onset in adulthood v1.2 TOE1 Louise Daugherty Source NHS GMS was added to TOE1.
Hereditary ataxia with onset in adulthood v1.2 TMEM240 Louise Daugherty Source NHS GMS was added to TMEM240.
Hereditary ataxia with onset in adulthood v1.2 TMEM106B Louise Daugherty Source NHS GMS was added to TMEM106B.
Hereditary ataxia with onset in adulthood v1.2 TINF2 Louise Daugherty Source NHS GMS was added to TINF2.
Hereditary ataxia with onset in adulthood v1.2 THG1L Louise Daugherty Source NHS GMS was added to THG1L.
Hereditary ataxia with onset in adulthood v1.2 TGM6 Louise Daugherty Source NHS GMS was added to TGM6.
Hereditary ataxia with onset in adulthood v1.2 TERT Louise Daugherty Source NHS GMS was added to TERT.
Hereditary ataxia with onset in adulthood v1.2 TDP1 Louise Daugherty Source NHS GMS was added to TDP1.
Hereditary ataxia with onset in adulthood v1.2 TBC1D23 Louise Daugherty Source NHS GMS was added to TBC1D23.
Hereditary ataxia with onset in adulthood v1.2 SYT14 Louise Daugherty Source NHS GMS was added to SYT14.
Hereditary ataxia with onset in adulthood v1.2 SYNGAP1 Louise Daugherty Source NHS GMS was added to SYNGAP1.
Hereditary ataxia with onset in adulthood v1.2 SYNE1 Louise Daugherty Source NHS GMS was added to SYNE1.
Hereditary ataxia with onset in adulthood v1.2 STUB1 Louise Daugherty Source NHS GMS was added to STUB1.
Hereditary ataxia with onset in adulthood v1.2 SRD5A3 Louise Daugherty Source NHS GMS was added to SRD5A3.
Hereditary ataxia with onset in adulthood v1.2 SQSTM1 Louise Daugherty Source NHS GMS was added to SQSTM1.
Hereditary ataxia with onset in adulthood v1.2 SPTBN2 Louise Daugherty Source NHS GMS was added to SPTBN2.
Hereditary ataxia with onset in adulthood v1.2 SPR Louise Daugherty Source NHS GMS was added to SPR.
Hereditary ataxia with onset in adulthood v1.2 SPG7 Louise Daugherty Source NHS GMS was added to SPG7.
Hereditary ataxia with onset in adulthood v1.2 SNX14 Louise Daugherty Source NHS GMS was added to SNX14.
Hereditary ataxia with onset in adulthood v1.2 SMPD4 Louise Daugherty Source NHS GMS was added to SMPD4.
Hereditary ataxia with onset in adulthood v1.2 SLC9A1 Louise Daugherty Source NHS GMS was added to SLC9A1.
Hereditary ataxia with onset in adulthood v1.2 SLC6A5 Louise Daugherty Source NHS GMS was added to SLC6A5.
Hereditary ataxia with onset in adulthood v1.2 SLC52A2 Louise Daugherty Source NHS GMS was added to SLC52A2.
Hereditary ataxia with onset in adulthood v1.2 SLC39A8 Louise Daugherty Source NHS GMS was added to SLC39A8.
Hereditary ataxia with onset in adulthood v1.2 SLC2A1 Louise Daugherty Source NHS GMS was added to SLC2A1.
Hereditary ataxia with onset in adulthood v1.2 SLC25A46 Louise Daugherty Source NHS GMS was added to SLC25A46.
Hereditary ataxia with onset in adulthood v1.2 SLC25A32 Louise Daugherty Source NHS GMS was added to SLC25A32.
Hereditary ataxia with onset in adulthood v1.2 SLC1A3 Louise Daugherty Source NHS GMS was added to SLC1A3.
Hereditary ataxia with onset in adulthood v1.2 SIL1 Louise Daugherty Source NHS GMS was added to SIL1.
Hereditary ataxia with onset in adulthood v1.2 SETX Louise Daugherty Source NHS GMS was added to SETX.
Hereditary ataxia with onset in adulthood v1.2 SEPSECS Louise Daugherty Source NHS GMS was added to SEPSECS.
Hereditary ataxia with onset in adulthood v1.2 SCYL1 Louise Daugherty Source NHS GMS was added to SCYL1.
Hereditary ataxia with onset in adulthood v1.2 SCN9A Louise Daugherty Source NHS GMS was added to SCN9A.
Hereditary ataxia with onset in adulthood v1.2 SCN8A Louise Daugherty Source NHS GMS was added to SCN8A.
Hereditary ataxia with onset in adulthood v1.2 SCN1A Louise Daugherty Source NHS GMS was added to SCN1A.
Hereditary ataxia with onset in adulthood v1.2 SAR1B Louise Daugherty Source NHS GMS was added to SAR1B.
Hereditary ataxia with onset in adulthood v1.2 SAMD9L Louise Daugherty Source NHS GMS was added to SAMD9L.
Hereditary ataxia with onset in adulthood v1.2 SACS Louise Daugherty Source NHS GMS was added to SACS.
Hereditary ataxia with onset in adulthood v1.2 RUBCN Louise Daugherty Source NHS GMS was added to RUBCN.
Hereditary ataxia with onset in adulthood v1.2 RORA Louise Daugherty Source NHS GMS was added to RORA.
Hereditary ataxia with onset in adulthood v1.2 ROBO3 Louise Daugherty Source NHS GMS was added to ROBO3.
Hereditary ataxia with onset in adulthood v1.2 RNF216 Louise Daugherty Source NHS GMS was added to RNF216.
Hereditary ataxia with onset in adulthood v1.2 RNF170 Louise Daugherty Source NHS GMS was added to RNF170.
Hereditary ataxia with onset in adulthood v1.2 RELN Louise Daugherty Source NHS GMS was added to RELN.
Hereditary ataxia with onset in adulthood v1.2 RARS2 Louise Daugherty Source NHS GMS was added to RARS2.
Hereditary ataxia with onset in adulthood v1.2 PUM1 Louise Daugherty Source NHS GMS was added to PUM1.
Hereditary ataxia with onset in adulthood v1.2 PTRH2 Louise Daugherty Source NHS GMS was added to PTRH2.
Hereditary ataxia with onset in adulthood v1.2 PRRT2 Louise Daugherty Source NHS GMS was added to PRRT2.
Hereditary ataxia with onset in adulthood v1.2 PRNP Louise Daugherty Source NHS GMS was added to PRNP.
Hereditary ataxia with onset in adulthood v1.2 PRKCG Louise Daugherty Source NHS GMS was added to PRKCG.
Hereditary ataxia with onset in adulthood v1.2 PRICKLE1 Louise Daugherty Source NHS GMS was added to PRICKLE1.
Hereditary ataxia with onset in adulthood v1.2 POLR3A Louise Daugherty Source NHS GMS was added to POLR3A.
Hereditary ataxia with onset in adulthood v1.2 POLG2 Louise Daugherty Source NHS GMS was added to POLG2.
Hereditary ataxia with onset in adulthood v1.2 POLG Louise Daugherty Source NHS GMS was added to POLG.
Hereditary ataxia with onset in adulthood v1.2 PNPLA6 Louise Daugherty Source NHS GMS was added to PNPLA6.
Hereditary ataxia with onset in adulthood v1.2 PNKP Louise Daugherty Source NHS GMS was added to PNKP.
Hereditary ataxia with onset in adulthood v1.2 PNKD Louise Daugherty Source NHS GMS was added to PNKD.
Hereditary ataxia with onset in adulthood v1.2 PMPCB Louise Daugherty Source NHS GMS was added to PMPCB.
Hereditary ataxia with onset in adulthood v1.2 PMPCA Louise Daugherty Source NHS GMS was added to PMPCA.
Hereditary ataxia with onset in adulthood v1.2 PLA2G6 Louise Daugherty Source NHS GMS was added to PLA2G6.
Hereditary ataxia with onset in adulthood v1.2 PIK3R5 Louise Daugherty Source NHS GMS was added to PIK3R5.
Hereditary ataxia with onset in adulthood v1.2 PI4KA Louise Daugherty Source NHS GMS was added to PI4KA.
Hereditary ataxia with onset in adulthood v1.2 PEX6 Louise Daugherty Source NHS GMS was added to PEX6.
Hereditary ataxia with onset in adulthood v1.2 PEX16 Louise Daugherty Source NHS GMS was added to PEX16.
Hereditary ataxia with onset in adulthood v1.2 PDYN Louise Daugherty Source NHS GMS was added to PDYN.
Hereditary ataxia with onset in adulthood v1.2 PCLO Louise Daugherty Source NHS GMS was added to PCLO.
Hereditary ataxia with onset in adulthood v1.2 PAX6 Louise Daugherty Source NHS GMS was added to PAX6.
Hereditary ataxia with onset in adulthood v1.2 PAX2 Louise Daugherty Source NHS GMS was added to PAX2.
Hereditary ataxia with onset in adulthood v1.2 PACS2 Louise Daugherty Source NHS GMS was added to PACS2.
Hereditary ataxia with onset in adulthood v1.2 OPHN1 Louise Daugherty Source NHS GMS was added to OPHN1.
Hereditary ataxia with onset in adulthood v1.2 OPA3 Louise Daugherty Source NHS GMS was added to OPA3.
Hereditary ataxia with onset in adulthood v1.2 OPA1 Louise Daugherty Source NHS GMS was added to OPA1.
Hereditary ataxia with onset in adulthood v1.2 NPC2 Louise Daugherty Source NHS GMS was added to NPC2.
Hereditary ataxia with onset in adulthood v1.2 NPC1 Louise Daugherty Source NHS GMS was added to NPC1.
Hereditary ataxia with onset in adulthood v1.2 NKX6-2 Louise Daugherty Source NHS GMS was added to NKX6-2.
Hereditary ataxia with onset in adulthood v1.2 NKX2-1 Louise Daugherty Source NHS GMS was added to NKX2-1.
Hereditary ataxia with onset in adulthood v1.2 NHLRC1 Louise Daugherty Source NHS GMS was added to NHLRC1.
Hereditary ataxia with onset in adulthood v1.2 NAGLU Louise Daugherty Source NHS GMS was added to NAGLU.
Hereditary ataxia with onset in adulthood v1.2 MTTP Louise Daugherty Source NHS GMS was added to MTTP.
Hereditary ataxia with onset in adulthood v1.2 MTPAP Louise Daugherty Source NHS GMS was added to MTPAP.
Hereditary ataxia with onset in adulthood v1.2 MT-ATP6 Louise Daugherty Source NHS GMS was added to MT-ATP6.
Hereditary ataxia with onset in adulthood v1.2 MSTO1 Louise Daugherty Source NHS GMS was added to MSTO1.
Hereditary ataxia with onset in adulthood v1.2 MRE11 Louise Daugherty Source NHS GMS was added to MRE11.
Hereditary ataxia with onset in adulthood v1.2 MORC2 Louise Daugherty Source NHS GMS was added to MORC2.
Hereditary ataxia with onset in adulthood v1.2 MME Louise Daugherty Source NHS GMS was added to MME.
Hereditary ataxia with onset in adulthood v1.2 MMACHC Louise Daugherty Source NHS GMS was added to MMACHC.
Hereditary ataxia with onset in adulthood v1.2 MFN2 Louise Daugherty Source NHS GMS was added to MFN2.
Hereditary ataxia with onset in adulthood v1.2 MARS2 Louise Daugherty Source NHS GMS was added to MARS2.
Hereditary ataxia with onset in adulthood v1.2 MAPK8IP3 Louise Daugherty Source NHS GMS was added to MAPK8IP3.
Hereditary ataxia with onset in adulthood v1.2 LNPK Louise Daugherty Source NHS GMS was added to LNPK.
Hereditary ataxia with onset in adulthood v1.2 KIF1C Louise Daugherty Source NHS GMS was added to KIF1C.
Hereditary ataxia with onset in adulthood v1.2 KCNQ3 Louise Daugherty Source NHS GMS was added to KCNQ3.
Hereditary ataxia with onset in adulthood v1.2 KCNQ2 Louise Daugherty Source NHS GMS was added to KCNQ2.
Hereditary ataxia with onset in adulthood v1.2 KCNK18 Louise Daugherty Source NHS GMS was added to KCNK18.
Hereditary ataxia with onset in adulthood v1.2 KCNJ10 Louise Daugherty Source NHS GMS was added to KCNJ10.
Hereditary ataxia with onset in adulthood v1.2 KCND3 Louise Daugherty Source NHS GMS was added to KCND3.
Hereditary ataxia with onset in adulthood v1.2 KCNC3 Louise Daugherty Source NHS GMS was added to KCNC3.
Hereditary ataxia with onset in adulthood v1.2 KCNA2 Louise Daugherty Source NHS GMS was added to KCNA2.
Hereditary ataxia with onset in adulthood v1.2 KCNA1 Louise Daugherty Source NHS GMS was added to KCNA1.
Hereditary ataxia with onset in adulthood v1.2 ITPR1 Louise Daugherty Source NHS GMS was added to ITPR1.
Hereditary ataxia with onset in adulthood v1.2 IRF2BPL Louise Daugherty Source NHS GMS was added to IRF2BPL.
Hereditary ataxia with onset in adulthood v1.2 HTT Louise Daugherty Source NHS GMS was added to HTT.
Hereditary ataxia with onset in adulthood v1.2 HEXB Louise Daugherty Source NHS GMS was added to HEXB.
Hereditary ataxia with onset in adulthood v1.2 HEXA Louise Daugherty Source NHS GMS was added to HEXA.
Hereditary ataxia with onset in adulthood v1.2 GRM1 Louise Daugherty Source NHS GMS was added to GRM1.
Hereditary ataxia with onset in adulthood v1.2 GRID2 Louise Daugherty Source NHS GMS was added to GRID2.
Hereditary ataxia with onset in adulthood v1.2 GPAA1 Louise Daugherty Source NHS GMS was added to GPAA1.
Hereditary ataxia with onset in adulthood v1.2 GOSR2 Louise Daugherty Source NHS GMS was added to GOSR2.
Hereditary ataxia with onset in adulthood v1.2 GLRB Louise Daugherty Source NHS GMS was added to GLRB.
Hereditary ataxia with onset in adulthood v1.2 GLRA1 Louise Daugherty Source NHS GMS was added to GLRA1.
Hereditary ataxia with onset in adulthood v1.2 GLI3 Louise Daugherty Source NHS GMS was added to GLI3.
Hereditary ataxia with onset in adulthood v1.2 GJC2 Louise Daugherty Source NHS GMS was added to GJC2.
Hereditary ataxia with onset in adulthood v1.2 GFAP Louise Daugherty Source NHS GMS was added to GFAP.
Hereditary ataxia with onset in adulthood v1.2 GDAP2 Louise Daugherty Source NHS GMS was added to GDAP2.
Hereditary ataxia with onset in adulthood v1.2 GBA2 Louise Daugherty Source NHS GMS was added to GBA2.
Hereditary ataxia with onset in adulthood v1.2 FXN Louise Daugherty Source NHS GMS was added to FXN.
Hereditary ataxia with onset in adulthood v1.2 FRMD4A Louise Daugherty Source NHS GMS was added to FRMD4A.
Hereditary ataxia with onset in adulthood v1.2 FOLR1 Louise Daugherty Source NHS GMS was added to FOLR1.
Hereditary ataxia with onset in adulthood v1.2 FMR1 Louise Daugherty Source NHS GMS was added to FMR1.
Hereditary ataxia with onset in adulthood v1.2 FLVCR1 Louise Daugherty Source NHS GMS was added to FLVCR1.
Hereditary ataxia with onset in adulthood v1.2 FGF14 Louise Daugherty Source NHS GMS was added to FGF14.
Hereditary ataxia with onset in adulthood v1.2 EXOSC9 Louise Daugherty Source NHS GMS was added to EXOSC9.
Hereditary ataxia with onset in adulthood v1.2 EXOSC8 Louise Daugherty Source NHS GMS was added to EXOSC8.
Hereditary ataxia with onset in adulthood v1.2 EXOSC3 Louise Daugherty Source NHS GMS was added to EXOSC3.
Hereditary ataxia with onset in adulthood v1.2 EPM2A Louise Daugherty Source NHS GMS was added to EPM2A.
Hereditary ataxia with onset in adulthood v1.2 ELOVL5 Louise Daugherty Source NHS GMS was added to ELOVL5.
Hereditary ataxia with onset in adulthood v1.2 ELOVL4 Louise Daugherty Source NHS GMS was added to ELOVL4.
Hereditary ataxia with onset in adulthood v1.2 EIF2B5 Louise Daugherty Source NHS GMS was added to EIF2B5.
Hereditary ataxia with onset in adulthood v1.2 EIF2B4 Louise Daugherty Source NHS GMS was added to EIF2B4.
Hereditary ataxia with onset in adulthood v1.2 EIF2B3 Louise Daugherty Source NHS GMS was added to EIF2B3.
Hereditary ataxia with onset in adulthood v1.2 EIF2B2 Louise Daugherty Source NHS GMS was added to EIF2B2.
Hereditary ataxia with onset in adulthood v1.2 EIF2B1 Louise Daugherty Source NHS GMS was added to EIF2B1.
Hereditary ataxia with onset in adulthood v1.2 EBF3 Louise Daugherty Source NHS GMS was added to EBF3.
Hereditary ataxia with onset in adulthood v1.2 DYNC1H1 Louise Daugherty Source NHS GMS was added to DYNC1H1.
Hereditary ataxia with onset in adulthood v1.2 DNMT1 Louise Daugherty Source NHS GMS was added to DNMT1.
Hereditary ataxia with onset in adulthood v1.2 DNAJC5 Louise Daugherty Source NHS GMS was added to DNAJC5.
Hereditary ataxia with onset in adulthood v1.2 DNAJC19 Louise Daugherty Source NHS GMS was added to DNAJC19.
Hereditary ataxia with onset in adulthood v1.2 DMXL2 Louise Daugherty Source NHS GMS was added to DMXL2.