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Deafness_IsolatedAndComplex v0.334 TECTA Zornitza Stark Mode of inheritance for gene: TECTA was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.333 TECTA Zornitza Stark reviewed gene: TECTA: Rating: GREEN; Mode of pathogenicity: None; Publications: 22718023, 17136632, 31554319, 21520338; Phenotypes: Deafness, autosomal recessive 21 603629, Deafness, autosomal dominant 8/12 601543; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2328 TECTA Zornitza Stark Marked gene: TECTA as ready
Mendeliome v0.2328 TECTA Zornitza Stark Added comment: Comment when marking as ready: Both recessive and dominant deafness associations assessed as DEFINITIVE by ClinGen.
Mendeliome v0.2328 TECTA Zornitza Stark Gene: tecta has been classified as Green List (High Evidence).
Mendeliome v0.2328 TECTA Zornitza Stark Phenotypes for gene: TECTA were changed from to Deafness, autosomal recessive 21 603629; Deafness, autosomal dominant 8/12 601543
Mendeliome v0.2327 TECTA Zornitza Stark Publications for gene: TECTA were set to
Mendeliome v0.2326 TECTA Zornitza Stark Mode of pathogenicity for gene: TECTA was changed from to Other
Mendeliome v0.2325 TECTA Zornitza Stark Mode of inheritance for gene: TECTA was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Microcephaly v0.112 TRAPPC9 Zornitza Stark Marked gene: TRAPPC9 as ready
Microcephaly v0.112 TRAPPC9 Zornitza Stark Gene: trappc9 has been classified as Green List (High Evidence).
Microcephaly v0.112 TRAPPC9 Zornitza Stark Phenotypes for gene: TRAPPC9 were changed from to Mental retardation, autosomal recessive 13, MIM# 613192
Microcephaly v0.111 TRAPPC9 Zornitza Stark Publications for gene: TRAPPC9 were set to
Microcephaly v0.110 TRAPPC9 Zornitza Stark Mode of inheritance for gene: TRAPPC9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.109 TRAPPC9 Zornitza Stark reviewed gene: TRAPPC9: Rating: GREEN; Mode of pathogenicity: None; Publications: 22549410, 20004765, 20004763, 30853973; Phenotypes: Mental retardation, autosomal recessive 13, MIM# 613192; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2324 TRAPPC9 Zornitza Stark Publications for gene: TRAPPC9 were set to 22549410; 20004765; 20004763
Mendeliome v0.2323 TRAPPC9 Zornitza Stark Marked gene: TRAPPC9 as ready
Mendeliome v0.2323 TRAPPC9 Zornitza Stark Gene: trappc9 has been classified as Green List (High Evidence).
Mendeliome v0.2323 TRAPPC9 Zornitza Stark Phenotypes for gene: TRAPPC9 were changed from to Mental retardation, autosomal recessive 13, MIM# 613192
Mendeliome v0.2322 TRAPPC9 Zornitza Stark Publications for gene: TRAPPC9 were set to
Mendeliome v0.2321 TRAPPC9 Zornitza Stark Mode of inheritance for gene: TRAPPC9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2320 TRAPPC9 Zornitza Stark reviewed gene: TRAPPC9: Rating: GREEN; Mode of pathogenicity: None; Publications: 22549410, 20004765, 20004763; Phenotypes: Mental retardation, autosomal recessive 13, MIM# 613192; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2320 SOS1 Zornitza Stark Marked gene: SOS1 as ready
Mendeliome v0.2320 SOS1 Zornitza Stark Added comment: Comment when marking as ready: The association with Noonan syndrome is well established; the association with gingival fibromatosis is questionable.
Mendeliome v0.2320 SOS1 Zornitza Stark Gene: sos1 has been classified as Green List (High Evidence).
Mendeliome v0.2320 SOS1 Zornitza Stark Phenotypes for gene: SOS1 were changed from to ?Fibromatosis, gingival, 1, 135300; Noonan syndrome 4, 610733
Mendeliome v0.2319 SOS1 Zornitza Stark Publications for gene: SOS1 were set to
Mendeliome v0.2318 SOS1 Zornitza Stark Mode of pathogenicity for gene: SOS1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mendeliome v0.2317 SOS1 Zornitza Stark Mode of inheritance for gene: SOS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.19 F11 Zornitza Stark Marked gene: F11 as ready
Bleeding and Platelet Disorders v0.19 F11 Zornitza Stark Gene: f11 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.19 F11 Zornitza Stark Phenotypes for gene: F11 were changed from to Factor XI deficiency, autosomal dominant 612416; Factor XI deficiency, autosomal recessive, MIM#612416
Bleeding and Platelet Disorders v0.18 F11 Zornitza Stark Publications for gene: F11 were set to
Bleeding and Platelet Disorders v0.17 F11 Zornitza Stark Mode of inheritance for gene: F11 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.16 F11 Zornitza Stark reviewed gene: F11: Rating: GREEN; Mode of pathogenicity: None; Publications: 18446632, 15026311; Phenotypes: Factor XI deficiency, autosomal dominant 612416, Factor XI deficiency, autosomal recessive, MIM#612416; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.2316 F11 Zornitza Stark Marked gene: F11 as ready
Mendeliome v0.2316 F11 Zornitza Stark Gene: f11 has been classified as Green List (High Evidence).
Mendeliome v0.2316 F11 Zornitza Stark Phenotypes for gene: F11 were changed from to Factor XI deficiency, autosomal dominant 612416; Factor XI deficiency, autosomal recessive, MIM#612416
Mendeliome v0.2315 F11 Zornitza Stark Publications for gene: F11 were set to
Mendeliome v0.2314 F11 Zornitza Stark Mode of inheritance for gene: F11 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.2313 MED13L Zornitza Stark Marked gene: MED13L as ready
Mendeliome v0.2313 MED13L Zornitza Stark Added comment: Comment when marking as ready: The evidence for isolated CHD much less compelling than the association with a neurodevelopmental syndrome.
Mendeliome v0.2313 MED13L Zornitza Stark Gene: med13l has been classified as Green List (High Evidence).
Mendeliome v0.2313 MED13L Zornitza Stark Phenotypes for gene: MED13L were changed from to Mental retardation and distinctive facial features with or without cardiac defects 616789; Transposition of the great arteries, dextro-looped 1 608808
Autism v0.83 FMR1 Bryony Thompson Tag STR tag was added to gene: FMR1.
Hydrocephalus_Ventriculomegaly v0.15 FMR1 Bryony Thompson Tag STR tag was added to gene: FMR1.
Mendeliome v0.2312 FMR1 Bryony Thompson Tag STR tag was added to gene: FMR1.
Intellectual disability syndromic and non-syndromic v0.2524 FMR1 Bryony Thompson Tag STR tag was added to gene: FMR1.
Mendeliome v0.2312 DMPK Bryony Thompson Tag STR tag was added to gene: DMPK.
Mendeliome v0.2312 MED13L Zornitza Stark Publications for gene: MED13L were set to
Mendeliome v0.2311 MED13L Zornitza Stark Mode of inheritance for gene: MED13L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2310 PROKR2 Zornitza Stark Marked gene: PROKR2 as ready
Mendeliome v0.2310 PROKR2 Zornitza Stark Gene: prokr2 has been classified as Green List (High Evidence).
Callosome v0.123 PROKR2 Zornitza Stark Marked gene: PROKR2 as ready
Callosome v0.123 PROKR2 Zornitza Stark Gene: prokr2 has been classified as Amber List (Moderate Evidence).
Callosome v0.123 PROKR2 Zornitza Stark Phenotypes for gene: PROKR2 were changed from to Hypogonadotropic hypogonadism 3 with or without anosmia, MIM# 244200
Callosome v0.122 PROKR2 Zornitza Stark Mode of inheritance for gene: PROKR2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Callosome v0.121 PROKR2 Zornitza Stark Classified gene: PROKR2 as Amber List (moderate evidence)
Callosome v0.121 PROKR2 Zornitza Stark Gene: prokr2 has been classified as Amber List (Moderate Evidence).
Incidentalome v0.16 C9orf72 Bryony Thompson Tag STR tag was added to gene: C9orf72.
Callosome v0.120 PROKR2 Zornitza Stark reviewed gene: PROKR2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypogonadotropic hypogonadism 3 with or without anosmia, MIM# 244200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early-onset Parkinson disease v0.29 C9orf72 Bryony Thompson Marked gene: C9orf72 as ready
Early-onset Parkinson disease v0.29 C9orf72 Bryony Thompson Gene: c9orf72 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v0.29 C9orf72 Bryony Thompson Classified gene: C9orf72 as Green List (high evidence)
Early-onset Parkinson disease v0.29 C9orf72 Bryony Thompson Gene: c9orf72 has been classified as Green List (High Evidence).
Mendeliome v0.2310 BEAN1 Bryony Thompson Tag STR tag was added to gene: BEAN1.
Differences of Sex Development v0.14 PROKR2 Zornitza Stark reviewed gene: PROKR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18826963, 29161432; Phenotypes: Hypogonadotropic hypogonadism 3 with or without anosmia, MIM# 244200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2310 CCT5 Bryony Thompson Classified gene: CCT5 as Amber List (moderate evidence)
Mendeliome v0.2310 CCT5 Bryony Thompson Gene: cct5 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2309 CCT5 Bryony Thompson reviewed gene: CCT5: Rating: AMBER; Mode of pathogenicity: None; Publications: 16399879, 25124038, 25345891; Phenotypes: Neuropathy, hereditary sensory, with spastic paraplegia MIM#256840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.55 CCT5 Bryony Thompson Classified gene: CCT5 as Amber List (moderate evidence)
Hereditary Neuropathy v0.55 CCT5 Bryony Thompson Gene: cct5 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.54 CCT5 Bryony Thompson edited their review of gene: CCT5: Changed rating: AMBER
Hereditary Neuropathy v0.54 CCT5 Bryony Thompson Classified gene: CCT5 as Red List (low evidence)
Hereditary Neuropathy v0.54 CCT5 Bryony Thompson Gene: cct5 has been classified as Red List (Low Evidence).
Hereditary Neuropathy v0.53 CCT5 Bryony Thompson reviewed gene: CCT5: Rating: RED; Mode of pathogenicity: None; Publications: 16399879, 25124038, 25345891; Phenotypes: Neuropathy, hereditary sensory, with spastic paraplegia MIM#256840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2309 PROKR2 Zornitza Stark Phenotypes for gene: PROKR2 were changed from to Hypogonadotropic hypogonadism 3 with or without anosmia, MIM# 244200
Mendeliome v0.2308 PROKR2 Zornitza Stark Publications for gene: PROKR2 were set to
Mendeliome v0.2307 PROKR2 Zornitza Stark Mode of pathogenicity for gene: PROKR2 was changed from to Other
Mendeliome v0.2306 PROKR2 Zornitza Stark Mode of inheritance for gene: PROKR2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.14 CCT5 Bryony Thompson Classified gene: CCT5 as Red List (low evidence)
Hereditary Spastic Paraplegia v0.14 CCT5 Bryony Thompson Gene: cct5 has been classified as Red List (Low Evidence).
Hereditary Spastic Paraplegia v0.13 CCT5 Bryony Thompson reviewed gene: CCT5: Rating: RED; Mode of pathogenicity: None; Publications: 16399879; Phenotypes: Neuropathy, hereditary sensory, with spastic paraplegia MIM#256840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.13 BSCL2 Bryony Thompson Marked gene: BSCL2 as ready
Hereditary Spastic Paraplegia v0.13 BSCL2 Bryony Thompson Gene: bscl2 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.13 BSCL2 Bryony Thompson Classified gene: BSCL2 as Green List (high evidence)
Hereditary Spastic Paraplegia v0.13 BSCL2 Bryony Thompson Gene: bscl2 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.12 BSCL2 Bryony Thompson gene: BSCL2 was added
gene: BSCL2 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list
Mode of inheritance for gene: BSCL2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BSCL2 were set to Silver spastic paraplegia syndrome MIM#270685; Encephalopathy, progressive, with or without lipodystrophy MIM#615924
Review for gene: BSCL2 was set to GREEN
Added comment: Variable age of onset, including paediatric onset.
Sources: Expert list
Hereditary Spastic Paraplegia v0.11 B4GALNT1 Bryony Thompson Marked gene: B4GALNT1 as ready
Hereditary Spastic Paraplegia v0.11 B4GALNT1 Bryony Thompson Gene: b4galnt1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.11 B4GALNT1 Bryony Thompson Classified gene: B4GALNT1 as Green List (high evidence)
Hereditary Spastic Paraplegia v0.11 B4GALNT1 Bryony Thompson Gene: b4galnt1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.10 B4GALNT1 Bryony Thompson gene: B4GALNT1 was added
gene: B4GALNT1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list
Mode of inheritance for gene: B4GALNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B4GALNT1 were set to Spastic paraplegia 26, autosomal recessive MIM#609195
Review for gene: B4GALNT1 was set to GREEN
Added comment: Onset in first or second decades of life.
Sources: Expert list
Hereditary Spastic Paraplegia v0.9 ARSI Bryony Thompson reviewed gene: ARSI: Rating: RED; Mode of pathogenicity: None; Publications: 24482476; Phenotypes: Complex spastic paraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.9 ATL1 Bryony Thompson Marked gene: ATL1 as ready
Hereditary Spastic Paraplegia v0.9 ATL1 Bryony Thompson Gene: atl1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.9 ATL1 Bryony Thompson Classified gene: ATL1 as Green List (high evidence)
Hereditary Spastic Paraplegia v0.9 ATL1 Bryony Thompson Gene: atl1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.8 ATL1 Bryony Thompson gene: ATL1 was added
gene: ATL1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list
Mode of inheritance for gene: ATL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ATL1 were set to Spastic paraplegia 3A, autosomal dominant MIM#182600
Review for gene: ATL1 was set to GREEN
Added comment: Usually shows early age at onset.
Sources: Expert list
Mendeliome v0.2305 PROKR2 Elena Savva reviewed gene: PROKR2: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID:18826963, 29161432; Phenotypes: Hypogonadotropic hypogonadism 3 with or without anosmia 244200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Malformations of cortical development_Superpanel v0.0 Bryony Thompson Added Panel Malformations of cortical development Superpanel
Set child panels to: Polymicrogyria and Schizencephaly; Lissencephaly and Band Heterotopia; Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly; Cobblestone Malformations
Mendeliome v0.2305 MED13L Elena Savva reviewed gene: MED13L: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID 29511999; Phenotypes: Mental retardation and distinctive facial features with or without cardiac defects 616789, Transposition of the great arteries, dextro-looped 1 608808; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Mendeliome v0.2305 F11 Elena Savva reviewed gene: F11: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:18446632, 15026311; Phenotypes: Factor XI deficiency, autosomal dominant 612416, Factor XI deficiency, autosomal recessive; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2305 SOS1 Elena Savva reviewed gene: SOS1: 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: PMID: 25062969, 17143285, 17143282; Phenotypes: ?Fibromatosis, gingival, 1, 135300, Noonan syndrome 4, 610733; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.2305 XRCC1 Bryony Thompson Marked gene: XRCC1 as ready
Mendeliome v0.2305 XRCC1 Bryony Thompson Gene: xrcc1 has been classified as Green List (High Evidence).
Mendeliome v0.2305 XRCC1 Bryony Thompson Classified gene: XRCC1 as Green List (high evidence)
Mendeliome v0.2305 XRCC1 Bryony Thompson Gene: xrcc1 has been classified as Green List (High Evidence).
Mendeliome v0.2304 XRCC1 Bryony Thompson gene: XRCC1 was added
gene: XRCC1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: XRCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XRCC1 were set to 28002403; 29472272
Phenotypes for gene: XRCC1 were set to Spinocerebellar ataxia, autosomal recessive 26 MIM#617633
Review for gene: XRCC1 was set to GREEN
Added comment: Three South Asian cases (one with early adult onset and the other two with onset in childhood) reported with slowly progressive cerebellar ataxia accompanied by sensorimotor neuropathy. All with the recurrent splice variant (c.1293G>C, 2 homozygotes and a compound heterozygote). Mice with conditional deletion of the Xrcc1 gene in the brain showed cerebellar ataxia.
Sources: Expert list
Hereditary Neuropathy v0.53 XRCC1 Bryony Thompson Classified gene: XRCC1 as Green List (high evidence)
Hereditary Neuropathy v0.53 XRCC1 Bryony Thompson Gene: xrcc1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.52 XRCC1 Bryony Thompson gene: XRCC1 was added
gene: XRCC1 was added to Hereditary Neuropathy - complex. Sources: Expert list
Mode of inheritance for gene: XRCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XRCC1 were set to 28002403; 29472272
Phenotypes for gene: XRCC1 were set to Spinocerebellar ataxia, autosomal recessive 26 MIM#617633
Review for gene: XRCC1 was set to GREEN
Added comment: Three South Asian cases (one with early adult onset and the other two with onset in childhood) reported with slowly progressive cerebellar ataxia accompanied by sensorimotor neuropathy. All with the recurrent splice variant (c.1293G>C, 2 homozygotes and a compound heterozygote). Mice with conditional deletion of the Xrcc1 gene in the brain showed cerebellar ataxia.
Sources: Expert list
Ataxia v0.183 XRCC1 Bryony Thompson Marked gene: XRCC1 as ready
Ataxia v0.183 XRCC1 Bryony Thompson Gene: xrcc1 has been classified as Green List (High Evidence).
Ataxia v0.183 XRCC1 Bryony Thompson Classified gene: XRCC1 as Green List (high evidence)
Ataxia v0.183 XRCC1 Bryony Thompson Gene: xrcc1 has been classified as Green List (High Evidence).
Ataxia v0.182 XRCC1 Bryony Thompson gene: XRCC1 was added
gene: XRCC1 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: XRCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XRCC1 were set to 28002403; 29472272
Phenotypes for gene: XRCC1 were set to Spinocerebellar ataxia, autosomal recessive 26 MIM#617633
Review for gene: XRCC1 was set to GREEN
Added comment: Three South Asian cases (one with early adult onset and the other two with onset in childhood) reported with slowly progressive cerebellar ataxia accompanied by sensorimotor neuropathy. All with the recurrent splice variant (c.1293G>C, 2 homozygotes and a compound heterozygote). Mice with conditional deletion of the Xrcc1 gene in the brain showed cerebellar ataxia.
Sources: Expert list
Mendeliome v0.2303 TRAPPC9 Elena Savva reviewed gene: TRAPPC9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, autosomal recessive 13, 613192; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2303 TECTA Elena Savva reviewed gene: TECTA: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID:22718023, 17136632, 31554319, 21520338; Phenotypes: Deafness, autosomal recessive 21 603629, Deafness, autosomal dominant 8/12 601543; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.2303 NF1 Elena Savva reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukemia, juvenile myelomonocytic 607785, Neurofibromatosis, familial spinal 162210, Neurofibromatosis, type 1 162200, Neurofibromatosis-Noonan syndrome 601321, Watson syndrome 193520; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Mendeliome v0.2303 TRPC3 Bryony Thompson Marked gene: TRPC3 as ready
Mendeliome v0.2303 TRPC3 Bryony Thompson Gene: trpc3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2303 TRPC3 Bryony Thompson Classified gene: TRPC3 as Amber List (moderate evidence)
Mendeliome v0.2303 TRPC3 Bryony Thompson Gene: trpc3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2302 TRPC3 Bryony Thompson gene: TRPC3 was added
gene: TRPC3 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: TRPC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRPC3 were set to 25477146; 19351902
Phenotypes for gene: TRPC3 were set to Spinocerebellar ataxia 41 MIM#616410
Mode of pathogenicity for gene: TRPC3 was set to Other
Review for gene: TRPC3 was set to AMBER
Added comment: A heterozygous gain-of function missense has been identified in a 40-year-old man with adult-onset spinocerebellar ataxia. A mouse model of dominant cerebellar ataxia, termed 'moonwalker', contains a gain-of-function variant in this gene.
Sources: Expert list
Mendeliome v0.2301 MFSD8 Elena Savva reviewed gene: MFSD8: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:31006324; Phenotypes: Ceroid lipofuscinosis, neuronal, 7 610951, Macular dystrophy with central cone involvement 616170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2301 DPYD Elena Savva reviewed gene: DPYD: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29152729; Phenotypes: 5-fluorouracil toxicity 274270, Dihydropyrimidine dehydrogenase deficiency 274270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2301 DAG1 Elena Savva reviewed gene: DAG1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29337005, 25503980; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818, Walker-Warburg syndrome and tectocerebellar dysgraphia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2301 CYP1B1 Elena Savva reviewed gene: CYP1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:21730847, 27243976; Phenotypes: Anterior segment dysgenesis 6, multiple subtypes, 617315, Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2301 SEC63 Elena Savva reviewed gene: SEC63: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23209713, 20095989; Phenotypes: Polycystic liver disease 2 617004; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Ataxia v0.181 RUBCN Bryony Thompson Classified gene: RUBCN as Green List (high evidence)
Ataxia v0.181 RUBCN Bryony Thompson Added comment: Comment on list classification: Also supporting in vitro functional assays.
Ataxia v0.181 RUBCN Bryony Thompson Gene: rubcn has been classified as Green List (High Evidence).
Ataxia v0.180 PCDH12 Bryony Thompson reviewed gene: PCDH12: Rating: RED; Mode of pathogenicity: None; Publications: 30459466; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.180 C5orf42 Zornitza Stark Marked gene: C5orf42 as ready
Ataxia v0.180 C5orf42 Zornitza Stark Gene: c5orf42 has been classified as Green List (High Evidence).
Ataxia v0.180 C5orf42 Zornitza Stark Phenotypes for gene: C5orf42 were changed from Joubert syndrome 17 to Joubert syndrome 17, MIM# 614615
Ataxia v0.179 C5orf42 Zornitza Stark reviewed gene: C5orf42: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 17, MIM# 614615; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.179 ATCAY Zornitza Stark Marked gene: ATCAY as ready
Ataxia v0.179 ATCAY Zornitza Stark Gene: atcay has been classified as Amber List (Moderate Evidence).
Ataxia v0.179 ATCAY Zornitza Stark Phenotypes for gene: ATCAY were changed from Cayman Ataxia, 601238; Cerebellar Ataxia, Cayman type; Ataxia, cerebellar, Cayman type to Ataxia, cerebellar, Cayman type, MIM# 601238
Ataxia v0.178 ATCAY Zornitza Stark Publications for gene: ATCAY were set to
Ataxia v0.177 ATCAY Zornitza Stark Classified gene: ATCAY as Amber List (moderate evidence)
Ataxia v0.177 ATCAY Zornitza Stark Gene: atcay has been classified as Amber List (Moderate Evidence).
Ataxia v0.176 ATCAY Zornitza Stark reviewed gene: ATCAY: Rating: AMBER; Mode of pathogenicity: None; Publications: 14556008; Phenotypes: Ataxia, cerebellar, Cayman type, MIM# 601238; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.176 ARL13B Zornitza Stark Marked gene: ARL13B as ready
Ataxia v0.176 ARL13B Zornitza Stark Gene: arl13b has been classified as Green List (High Evidence).
Ataxia v0.176 ARL13B Zornitza Stark Phenotypes for gene: ARL13B were changed from Joubert syndrome 8 to Joubert syndrome 8, MIM# 612291
Ataxia v0.175 ARL13B Zornitza Stark reviewed gene: ARL13B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 8, MIM# 612291; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.175 NKX2-1 Bryony Thompson reviewed gene: NKX2-1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10931427, 27066577, 26839702, 26103969; Phenotypes: Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978, Chorea, hereditary benign MIM#118700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia v0.175 PEX7 Zornitza Stark Marked gene: PEX7 as ready
Ataxia v0.175 PEX7 Zornitza Stark Gene: pex7 has been classified as Green List (High Evidence).
Ataxia v0.175 PEX7 Zornitza Stark Phenotypes for gene: PEX7 were changed from Refsum disease; Peroxisome biogenesis disorder 9B to Refsum disease; Peroxisome biogenesis disorder 9B, MIM#614879
Ataxia v0.174 PEX7 Zornitza Stark reviewed gene: PEX7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 9B, MIM# 614879; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.174 PHYH Zornitza Stark Marked gene: PHYH as ready
Ataxia v0.174 PHYH Zornitza Stark Gene: phyh has been classified as Green List (High Evidence).
Ataxia v0.174 PHYH Zornitza Stark Phenotypes for gene: PHYH were changed from Refsum disease to Refsum disease, MIM# 266500
Ataxia v0.173 PHYH Zornitza Stark reviewed gene: PHYH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Refsum disease, MIM# 266500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.173 PMPCB Zornitza Stark Marked gene: PMPCB as ready
Ataxia v0.173 PMPCB Zornitza Stark Gene: pmpcb has been classified as Green List (High Evidence).
Ataxia v0.173 PMPCB Zornitza Stark Publications for gene: PMPCB were set to
Ataxia v0.172 PMPCB Zornitza Stark reviewed gene: PMPCB: Rating: GREEN; Mode of pathogenicity: None; Publications: 29576218; Phenotypes: Multiple mitochondrial dysfunctions syndrome 6, MIM# 617954; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.172 POLR3B Zornitza Stark Marked gene: POLR3B as ready
Ataxia v0.172 POLR3B Zornitza Stark Gene: polr3b has been classified as Green List (High Evidence).
Ataxia v0.172 POLR3B Zornitza Stark Phenotypes for gene: POLR3B were changed from Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism to Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM#614381
Ataxia v0.171 MVK Bryony Thompson reviewed gene: MVK: Rating: GREEN; Mode of pathogenicity: None; Publications: 12563048, 10401001, 28095071; Phenotypes: Mevalonic aciduria MIM#610377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.171 POLR3B Zornitza Stark Publications for gene: POLR3B were set to
Ataxia v0.170 POLR3B Zornitza Stark reviewed gene: POLR3B: Rating: GREEN; Mode of pathogenicity: None; Publications: 22036171, 22036172; Phenotypes: Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 614381; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.170 PTRH2 Zornitza Stark Marked gene: PTRH2 as ready
Ataxia v0.170 PTRH2 Zornitza Stark Gene: ptrh2 has been classified as Green List (High Evidence).
Ataxia v0.170 PTRH2 Zornitza Stark Publications for gene: PTRH2 were set to
Ataxia v0.169 PTRH2 Zornitza Stark reviewed gene: PTRH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25558065, 25574476, 31057140, 27129381; Phenotypes: Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, MIM# 616263; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.169 RARS2 Zornitza Stark Marked gene: RARS2 as ready
Ataxia v0.169 RARS2 Zornitza Stark Gene: rars2 has been classified as Red List (Low Evidence).
Ataxia v0.169 RARS2 Zornitza Stark Publications for gene: RARS2 were set to 31429931
Ataxia v0.168 RARS2 Zornitza Stark reviewed gene: RARS2: Rating: RED; Mode of pathogenicity: None; Publications: 17847012, 25809939, 20635367; Phenotypes: Pontocerebellar hypoplasia, type 6, MIM# 611523; Mode of inheritance: None
Ataxia v0.168 RPGRIP1L Zornitza Stark Marked gene: RPGRIP1L as ready
Ataxia v0.168 RPGRIP1L Zornitza Stark Gene: rpgrip1l has been classified as Green List (High Evidence).
Ataxia v0.168 RPGRIP1L Zornitza Stark Phenotypes for gene: RPGRIP1L were changed from Joubert syndrome 7 to Joubert syndrome 7, MIM# 611560
Ataxia v0.167 RPGRIP1L Zornitza Stark reviewed gene: RPGRIP1L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 7, MIM# 611560; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.167 SCN1A Zornitza Stark Marked gene: SCN1A as ready
Ataxia v0.167 SCN1A Zornitza Stark Gene: scn1a has been classified as Green List (High Evidence).
Ataxia v0.167 SCN1A Zornitza Stark Phenotypes for gene: SCN1A were changed from Familial hemiplegic migraine 3, 609634; familial hemiplegic migraine 3; Familial febrile seziures 3A, 604403; several epilepsy, convulsion and migraine disorders.; Generalised epilepsy with febrile seizures type 2, 604403; Epileptic encephalopathy 6, 607208; Dravet syndrome to Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM# 607208
Ataxia v0.166 SCN1A Zornitza Stark reviewed gene: SCN1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM# 607208; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia v0.166 SCN2A Zornitza Stark Marked gene: SCN2A as ready
Ataxia v0.166 SCN2A Zornitza Stark Gene: scn2a has been classified as Green List (High Evidence).
Ataxia v0.166 SCN2A Zornitza Stark Phenotypes for gene: SCN2A were changed from Early infantile epileptic encephalopathy 11 to Early infantile epileptic encephalopathy 11, MIM# 613721
Ataxia v0.165 SCN2A Zornitza Stark reviewed gene: SCN2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 11, MIM# 613721; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia v0.165 SCYL1 Zornitza Stark Marked gene: SCYL1 as ready
Ataxia v0.165 SCYL1 Zornitza Stark Gene: scyl1 has been classified as Green List (High Evidence).
Ataxia v0.165 SCYL1 Zornitza Stark Publications for gene: SCYL1 were set to
Ataxia v0.164 SCYL1 Zornitza Stark reviewed gene: SCYL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29419818, 17571074, 26581903, 30531813; Phenotypes: Spinocerebellar ataxia, autosomal recessive 21, MIM# 616719; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.164 CTBP1 Bryony Thompson Marked gene: CTBP1 as ready
Ataxia v0.164 CTBP1 Bryony Thompson Gene: ctbp1 has been classified as Green List (High Evidence).
Ataxia v0.164 CTBP1 Bryony Thompson Classified gene: CTBP1 as Green List (high evidence)
Ataxia v0.164 CTBP1 Bryony Thompson Gene: ctbp1 has been classified as Green List (High Evidence).
Ataxia v0.163 CTBP1 Bryony Thompson gene: CTBP1 was added
gene: CTBP1 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: CTBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CTBP1 were set to 27094857; 28955726; 31041561
Phenotypes for gene: CTBP1 were set to Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, MIM#617915
Review for gene: CTBP1 was set to GREEN
Added comment: Paediatric onset of ataxia and >3 cases reported.
Sources: Expert list
Ataxia v0.161 VRK1 Bryony Thompson Deleted their review
Ataxia v0.161 VRK1 Bryony Thompson Deleted their comment
Ataxia v0.161 UBR4 Bryony Thompson Classified gene: UBR4 as Amber List (moderate evidence)
Ataxia v0.161 UBR4 Bryony Thompson Gene: ubr4 has been classified as Amber List (Moderate Evidence).
Ataxia v0.159 TUBB2A Bryony Thompson Publications for gene: TUBB2A were set to 29547997
Ataxia v0.158 TUBB2A Bryony Thompson Classified gene: TUBB2A as Red List (low evidence)
Ataxia v0.158 TUBB2A Bryony Thompson Gene: tubb2a has been classified as Red List (Low Evidence).
Ataxia v0.157 TUBB2A Bryony Thompson reviewed gene: TUBB2A: Rating: RED; Mode of pathogenicity: None; Publications: 29547997, 32203252; Phenotypes: Cortical dysplasia, complex, with other brain malformations 5 MIM#615763; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia v0.157 TUBA1A Bryony Thompson Marked gene: TUBA1A as ready
Ataxia v0.157 TUBA1A Bryony Thompson Gene: tuba1a has been classified as Red List (Low Evidence).
Ataxia v0.157 TUBA1A Bryony Thompson reviewed gene: TUBA1A: Rating: RED; Mode of pathogenicity: None; Publications: 21403111; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia v0.157 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Ataxia v0.156 SETX Bryony Thompson Marked gene: SETX as ready
Ataxia v0.156 SETX Bryony Thompson Gene: setx has been classified as Green List (High Evidence).
Ataxia v0.156 SETX Bryony Thompson Classified gene: SETX as Green List (high evidence)
Ataxia v0.156 SETX Bryony Thompson Gene: setx has been classified as Green List (High Evidence).
Ataxia v0.155 SETX Bryony Thompson gene: SETX was added
gene: SETX was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: SETX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SETX were set to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 MIM#606002
Review for gene: SETX was set to GREEN
Added comment: Onset usually in mid-teens, average 15 years (range 2 to 20 years).
Sources: Expert list
Ataxia v0.154 SACS Bryony Thompson Marked gene: SACS as ready
Ataxia v0.154 SACS Bryony Thompson Gene: sacs has been classified as Green List (High Evidence).
Ataxia v0.154 SACS Bryony Thompson Classified gene: SACS as Green List (high evidence)
Ataxia v0.154 SACS Bryony Thompson Gene: sacs has been classified as Green List (High Evidence).
Ataxia v0.153 SACS Bryony Thompson gene: SACS was added
gene: SACS was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SACS were set to Spastic ataxia, Charlevoix-Saguenay type MIM#270550
Review for gene: SACS was set to GREEN
Added comment: Onset usually in infancy or early childhood.
Sources: Expert list
Ataxia v0.152 RNF216 Bryony Thompson Marked gene: RNF216 as ready
Ataxia v0.152 RNF216 Bryony Thompson Gene: rnf216 has been classified as Green List (High Evidence).
Ataxia v0.152 RNF216 Bryony Thompson Classified gene: RNF216 as Green List (high evidence)
Ataxia v0.152 RNF216 Bryony Thompson Gene: rnf216 has been classified as Green List (High Evidence).
Ataxia v0.151 RNF216 Bryony Thompson gene: RNF216 was added
gene: RNF216 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: RNF216 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNF216 were set to Cerebellar ataxia and hypogonadotropic hypogonadism MIM#212840
Review for gene: RNF216 was set to GREEN
Added comment: Onset of ataxia is variable and can be from early childhood (ORPHA:1173).
Sources: Expert list
Ataxia v0.150 PRRT2 Bryony Thompson Classified gene: PRRT2 as Green List (high evidence)
Ataxia v0.150 PRRT2 Bryony Thompson Gene: prrt2 has been classified as Green List (High Evidence).
Ataxia v0.149 PRRT2 Bryony Thompson gene: PRRT2 was added
gene: PRRT2 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: PRRT2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PRRT2 were set to 26598494; 31193310; 30501978; 30713971
Phenotypes for gene: PRRT2 were set to Episodic kinesigenic dyskinesia 1 MIM#128200; Convulsions, familial infantile, with paroxysmal choreoathetosis MIM#602066; Seizures, benign familial infantile, 2 MIM#605751
Review for gene: PRRT2 was set to GREEN
Added comment: Ataxia can be a prominent feature of the condition, particularly in biallelic cases. Onset of ataxia is variable, from paediatric to adult.
Sources: Expert list
Ataxia v0.148 SLC17A5 Zornitza Stark Marked gene: SLC17A5 as ready
Ataxia v0.148 SLC17A5 Zornitza Stark Gene: slc17a5 has been classified as Green List (High Evidence).
Ataxia v0.148 SLC17A5 Zornitza Stark Phenotypes for gene: SLC17A5 were changed from Salla disease; Sialic acid storage disease, severe infantile type to Salla disease; Sialic acid storage disease, severe infantile type, MIM# 269920
Ataxia v0.147 SLC17A5 Zornitza Stark reviewed gene: SLC17A5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sialic acid storage disorder, infantile, MIM# 269920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.147 SLC25A46 Zornitza Stark Marked gene: SLC25A46 as ready
Ataxia v0.147 SLC25A46 Zornitza Stark Gene: slc25a46 has been classified as Green List (High Evidence).
Ataxia v0.147 SLC25A46 Zornitza Stark reviewed gene: SLC25A46: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.147 POLG Bryony Thompson Marked gene: POLG as ready
Ataxia v0.147 POLG Bryony Thompson Gene: polg has been classified as Green List (High Evidence).
Ataxia v0.147 POLG Bryony Thompson Classified gene: POLG as Green List (high evidence)
Ataxia v0.147 POLG Bryony Thompson Gene: polg has been classified as Green List (High Evidence).
Ataxia v0.146 SLC52A2 Zornitza Stark Marked gene: SLC52A2 as ready
Ataxia v0.146 SLC52A2 Zornitza Stark Gene: slc52a2 has been classified as Green List (High Evidence).
Ataxia v0.146 POLG Bryony Thompson gene: POLG was added
gene: POLG was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLG were set to Mitochondrial DNA depletion syndrome 4A (Alpers type) MIM#203700; Mitochondrial DNA depletion syndrome 4B (MNGIE type) MIM#613662; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) MIM#607459; Progressive external ophthalmoplegia, autosomal recessive 1 MIM#258450
Review for gene: POLG was set to GREEN
Added comment: Variable age of onset, including infancy and early childhood.
Sources: Expert list
Ataxia v0.145 SLC52A2 Zornitza Stark reviewed gene: SLC52A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Brown-Vialetto-Van Laere syndrome 2, MIM# 614707; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.333 SLC9A1 Zornitza Stark Marked gene: SLC9A1 as ready
Deafness_IsolatedAndComplex v0.333 SLC9A1 Zornitza Stark Gene: slc9a1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.333 SLC9A1 Zornitza Stark Classified gene: SLC9A1 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.333 SLC9A1 Zornitza Stark Gene: slc9a1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.332 SLC9A1 Zornitza Stark gene: SLC9A1 was added
gene: SLC9A1 was added to Deafness. Sources: Expert list
Mode of inheritance for gene: SLC9A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC9A1 were set to 25205112; 30018422; 25760855
Phenotypes for gene: SLC9A1 were set to Lichtenstein-Knorr syndrome, MIM# 616291
Review for gene: SLC9A1 was set to AMBER
Added comment: Two families with bi-allelic variants in this gene reported and combination of deafness and ataxia.
Sources: Expert list
Ataxia v0.145 PNPLA6 Bryony Thompson Marked gene: PNPLA6 as ready
Ataxia v0.145 PNPLA6 Bryony Thompson Gene: pnpla6 has been classified as Green List (High Evidence).
Ataxia v0.145 PNPLA6 Bryony Thompson Classified gene: PNPLA6 as Green List (high evidence)
Ataxia v0.145 PNPLA6 Bryony Thompson Gene: pnpla6 has been classified as Green List (High Evidence).
Ataxia v0.144 PNPLA6 Bryony Thompson gene: PNPLA6 was added
gene: PNPLA6 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNPLA6 were set to Boucher-Neuhauser syndrome MIM#215470; Laurence-Moon syndrome MIM#245800; Oliver-McFarlane syndrome MIM#275400; Spastic paraplegia 39, autosomal recessive MIM#612020
Review for gene: PNPLA6 was set to GREEN
Added comment: Variable age of onset for neurological features (including ataxia) from childhood to adulthood.
Sources: Expert list
Ataxia v0.143 MTPAP Bryony Thompson reviewed gene: MTPAP: Rating: AMBER; Mode of pathogenicity: None; Publications: 20970105, 26319014, 25008111; Phenotypes: Spastic ataxia 4, autosomal recessive MIM#613672; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2301 SLC9A1 Zornitza Stark Marked gene: SLC9A1 as ready
Mendeliome v0.2301 SLC9A1 Zornitza Stark Gene: slc9a1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2301 SLC9A1 Zornitza Stark Classified gene: SLC9A1 as Amber List (moderate evidence)
Mendeliome v0.2301 SLC9A1 Zornitza Stark Gene: slc9a1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2300 SLC9A1 Zornitza Stark gene: SLC9A1 was added
gene: SLC9A1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: SLC9A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC9A1 were set to 25205112; 30018422; 25760855
Phenotypes for gene: SLC9A1 were set to Lichtenstein-Knorr syndrome, MIM# 616291
Review for gene: SLC9A1 was set to AMBER
Added comment: Two families with bi-allelic variants in this gene reported and combination of deafness and ataxia.
Sources: Expert list
Ataxia v0.143 SLC9A1 Zornitza Stark Marked gene: SLC9A1 as ready
Ataxia v0.143 SLC9A1 Zornitza Stark Gene: slc9a1 has been classified as Amber List (Moderate Evidence).
Ataxia v0.143 SLC9A1 Zornitza Stark Phenotypes for gene: SLC9A1 were changed from Lichtenstein-Knorr Syndrome to Lichtenstein-Knorr Syndrome, MIM# 616291
Ataxia v0.142 SLC9A1 Zornitza Stark Publications for gene: SLC9A1 were set to
Ataxia v0.141 SLC9A1 Zornitza Stark Classified gene: SLC9A1 as Amber List (moderate evidence)
Ataxia v0.141 SLC9A1 Zornitza Stark Gene: slc9a1 has been classified as Amber List (Moderate Evidence).
Ataxia v0.140 SLC9A1 Zornitza Stark reviewed gene: SLC9A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 25205112, 30018422, 25760855; Phenotypes: Lichtenstein-Knorr syndrome, MIM# 616291; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.140 SPR Zornitza Stark Marked gene: SPR as ready
Ataxia v0.140 SPR Zornitza Stark Gene: spr has been classified as Green List (High Evidence).
Ataxia v0.140 SPR Zornitza Stark reviewed gene: SPR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, MIM# 612716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.140 SPTBN2 Zornitza Stark Marked gene: SPTBN2 as ready
Ataxia v0.140 SPTBN2 Zornitza Stark Gene: sptbn2 has been classified as Green List (High Evidence).
Ataxia v0.140 SPTBN2 Zornitza Stark Classified gene: SPTBN2 as Green List (high evidence)
Ataxia v0.140 SPTBN2 Zornitza Stark Gene: sptbn2 has been classified as Green List (High Evidence).
Ataxia v0.139 SPTBN2 Zornitza Stark gene: SPTBN2 was added
gene: SPTBN2 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: SPTBN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SPTBN2 were set to 23236289; 23838597; 22781464; 31617442; 31066025
Phenotypes for gene: SPTBN2 were set to Spinocerebellar ataxia, autosomal recessive 14, MIM# 615386; Spinocerebellar ataxia 5, MIM# 600224
Review for gene: SPTBN2 was set to GREEN
Added comment: Both mono-allelic and bi-allelic variants in this gene are associated with childhood-onset ataxia.
Sources: Expert list
Ataxia v0.138 SQSTM1 Zornitza Stark Marked gene: SQSTM1 as ready
Ataxia v0.138 SQSTM1 Zornitza Stark Gene: sqstm1 has been classified as Green List (High Evidence).
Mendeliome v0.2299 MTCL1 Bryony Thompson Marked gene: MTCL1 as ready
Mendeliome v0.2299 MTCL1 Bryony Thompson Gene: mtcl1 has been classified as Amber List (Moderate Evidence).
Ataxia v0.138 SQSTM1 Zornitza Stark Phenotypes for gene: SQSTM1 were changed from Neurodegeneration with ataxia, dystonia, and gaze palsy, 617145 to Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM# 617145
Ataxia v0.137 SQSTM1 Zornitza Stark Publications for gene: SQSTM1 were set to
Mendeliome v0.2299 MTCL1 Bryony Thompson Classified gene: MTCL1 as Amber List (moderate evidence)
Mendeliome v0.2299 MTCL1 Bryony Thompson Gene: mtcl1 has been classified as Amber List (Moderate Evidence).
Ataxia v0.136 SQSTM1 Zornitza Stark reviewed gene: SQSTM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27545679; Phenotypes: Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM# 617145; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2298 MTCL1 Bryony Thompson gene: MTCL1 was added
gene: MTCL1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: MTCL1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MTCL1 were set to 30548255; 28283581
Phenotypes for gene: MTCL1 were set to slowly progressive cerebellar ataxia; mild intellectual disability; seizures; episodic pain; spinocerebellar ataxia
Review for gene: MTCL1 was set to AMBER
Added comment: Single case with a homozygous loss of function variant in a Polish study of early-onset cerebellar ataxia, and a single family with a single heterozygous missense (p.Val1435Met) identified in two family members with adult-onset spinocerebellar ataxia. Mtcl1 gene disruption in mice results in abnormal motor coordination with Purkinje cell degeneration
Sources: Expert list
Ataxia v0.136 MTCL1 Bryony Thompson Mode of inheritance for gene: MTCL1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ataxia v0.135 MTCL1 Bryony Thompson Marked gene: MTCL1 as ready
Ataxia v0.135 MTCL1 Bryony Thompson Gene: mtcl1 has been classified as Amber List (Moderate Evidence).
Ataxia v0.135 MTCL1 Bryony Thompson Classified gene: MTCL1 as Amber List (moderate evidence)
Ataxia v0.135 MTCL1 Bryony Thompson Gene: mtcl1 has been classified as Amber List (Moderate Evidence).
Ataxia v0.134 MTCL1 Bryony Thompson reviewed gene: MTCL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 30548255, 28283581; Phenotypes: slowly progressive cerebellar ataxia, mild intellectual disability, seizures, episodic pain, spinocerebellar ataxia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ataxia v0.134 STUB1 Zornitza Stark Marked gene: STUB1 as ready
Ataxia v0.134 STUB1 Zornitza Stark Gene: stub1 has been classified as Green List (High Evidence).
Ataxia v0.134 STUB1 Zornitza Stark Classified gene: STUB1 as Green List (high evidence)
Ataxia v0.134 STUB1 Zornitza Stark Gene: stub1 has been classified as Green List (High Evidence).
Ataxia v0.133 STUB1 Zornitza Stark gene: STUB1 was added
gene: STUB1 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: STUB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STUB1 were set to 25258038; 24742043
Phenotypes for gene: STUB1 were set to Spinocerebellar ataxia, autosomal recessive 16, MIM# 615768
Review for gene: STUB1 was set to GREEN
Added comment: Onset is typically in adolescence but onset in childhood also reported.
Sources: Expert list
Ataxia v0.132 MSTO1 Bryony Thompson Marked gene: MSTO1 as ready
Ataxia v0.132 MSTO1 Bryony Thompson Gene: msto1 has been classified as Green List (High Evidence).
Ataxia v0.132 MSTO1 Bryony Thompson Classified gene: MSTO1 as Green List (high evidence)
Ataxia v0.132 MSTO1 Bryony Thompson Gene: msto1 has been classified as Green List (High Evidence).
Ataxia v0.131 MSTO1 Bryony Thompson gene: MSTO1 was added
gene: MSTO1 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: MSTO1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MSTO1 were set to Myopathy, mitochondrial, and ataxia MIM#617675
Review for gene: MSTO1 was set to GREEN
Added comment: Onset usually in early childhood.
Sources: Expert list
Ataxia v0.130 MARS2 Bryony Thompson Marked gene: MARS2 as ready
Ataxia v0.130 MARS2 Bryony Thompson Gene: mars2 has been classified as Green List (High Evidence).
Ataxia v0.130 MARS2 Bryony Thompson Classified gene: MARS2 as Green List (high evidence)
Ataxia v0.130 MARS2 Bryony Thompson Gene: mars2 has been classified as Green List (High Evidence).
Ataxia v0.129 MARS2 Bryony Thompson gene: MARS2 was added
gene: MARS2 was added to Ataxia - paediatric. Sources: Expert list
SV/CNV tags were added to gene: MARS2.
Mode of inheritance for gene: MARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MARS2 were set to Spastic ataxia 3, autosomal recessive MIM#611390
Review for gene: MARS2 was set to GREEN
Added comment: Variable age at onset (range 2 to 59 years, mean 24 years). Complex duplication rearrangements the only cause reported to date.
Sources: Expert list
Ataxia v0.128 SYNE1 Zornitza Stark Marked gene: SYNE1 as ready
Ataxia v0.128 SYNE1 Zornitza Stark Gene: syne1 has been classified as Green List (High Evidence).
Ataxia v0.128 SYNE1 Zornitza Stark Classified gene: SYNE1 as Green List (high evidence)
Ataxia v0.128 SYNE1 Zornitza Stark Gene: syne1 has been classified as Green List (High Evidence).
Ataxia v0.127 SYNE1 Zornitza Stark gene: SYNE1 was added
gene: SYNE1 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: SYNE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SYNE1 were set to 23325900; 27086870
Phenotypes for gene: SYNE1 were set to Spinocerebellar ataxia, autosomal recessive 8, MIM# 610743
Review for gene: SYNE1 was set to GREEN
Added comment: Typical onset is in adulthood, but childhood-onset cases reported. Intra-familial variability.
Sources: Expert list
Ataxia v0.126 KIF1C Bryony Thompson Marked gene: KIF1C as ready
Ataxia v0.126 KIF1C Bryony Thompson Gene: kif1c has been classified as Green List (High Evidence).
Ataxia v0.126 KIF1C Bryony Thompson Classified gene: KIF1C as Green List (high evidence)
Ataxia v0.126 KIF1C Bryony Thompson Gene: kif1c has been classified as Green List (High Evidence).
Ataxia v0.125 KIF1C Bryony Thompson gene: KIF1C was added
gene: KIF1C was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: KIF1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF1C were set to Spastic ataxia 2, autosomal recessive MIM#611302
Review for gene: KIF1C was set to GREEN
Added comment: Onset usually in adolescence.
Sources: Expert list
Ataxia v0.124 SYNGAP1 Zornitza Stark Marked gene: SYNGAP1 as ready
Ataxia v0.124 SYNGAP1 Zornitza Stark Gene: syngap1 has been classified as Amber List (Moderate Evidence).
Ataxia v0.124 SYNGAP1 Zornitza Stark Publications for gene: SYNGAP1 were set to
Ataxia v0.123 KCNC3 Bryony Thompson Marked gene: KCNC3 as ready
Ataxia v0.123 KCNC3 Bryony Thompson Gene: kcnc3 has been classified as Green List (High Evidence).
Ataxia v0.123 KCNC3 Bryony Thompson Classified gene: KCNC3 as Green List (high evidence)
Ataxia v0.123 KCNC3 Bryony Thompson Gene: kcnc3 has been classified as Green List (High Evidence).
Ataxia v0.122 KCNC3 Bryony Thompson gene: KCNC3 was added
gene: KCNC3 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: KCNC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNC3 were set to Spinocerebellar ataxia 13 MIM#605259
Review for gene: KCNC3 was set to GREEN
Added comment: Variable age at onset, ranging from childhood to late adulthood.
Sources: Expert list
Ataxia v0.121 SYNGAP1 Zornitza Stark Classified gene: SYNGAP1 as Amber List (moderate evidence)
Ataxia v0.121 SYNGAP1 Zornitza Stark Gene: syngap1 has been classified as Amber List (Moderate Evidence).
Ataxia v0.120 SYNGAP1 Zornitza Stark reviewed gene: SYNGAP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26989088; Phenotypes: Mental retardation, autosomal dominant 5, MIM# 612621; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia v0.120 ITPR1 Bryony Thompson Marked gene: ITPR1 as ready
Ataxia v0.120 ITPR1 Bryony Thompson Gene: itpr1 has been classified as Green List (High Evidence).
Ataxia v0.120 ITPR1 Bryony Thompson Classified gene: ITPR1 as Green List (high evidence)
Ataxia v0.120 ITPR1 Bryony Thompson Gene: itpr1 has been classified as Green List (High Evidence).
Ataxia v0.119 ITPR1 Bryony Thompson gene: ITPR1 was added
gene: ITPR1 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: ITPR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ITPR1 were set to Spinocerebellar ataxia 15 MIM#606658; Spinocerebellar ataxia 29, congenital nonprogressive MIM#117360
Review for gene: ITPR1 was set to GREEN
Added comment: Wide range of onset from birth to adulthood.
Sources: Expert list
Ataxia v0.118 FXN Bryony Thompson Marked gene: FXN as ready
Ataxia v0.118 FXN Bryony Thompson Gene: fxn has been classified as Green List (High Evidence).
Ataxia v0.118 FXN Bryony Thompson Classified gene: FXN as Green List (high evidence)
Ataxia v0.118 FXN Bryony Thompson Gene: fxn has been classified as Green List (High Evidence).
Ataxia v0.117 FXN Bryony Thompson gene: FXN was added
gene: FXN was added to Ataxia - paediatric. Sources: Expert list
STR tags were added to gene: FXN.
Mode of inheritance for gene: FXN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FXN were set to Friedreich ataxia MIM#229300
Review for gene: FXN was set to GREEN
Added comment: Onset usually before adolescence. Most common genetic abnormality is the trinucleotide repeat expansion, but also SNVs and indels reported.
Sources: Expert list
Cerebellar and Pontocerebellar Hypoplasia v0.32 TBC1D23 Zornitza Stark Marked gene: TBC1D23 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.32 TBC1D23 Zornitza Stark Gene: tbc1d23 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.32 TBC1D23 Zornitza Stark Phenotypes for gene: TBC1D23 were changed from to Pontocerebellar hypoplasia, type 11, MIM# 617695
Cerebellar and Pontocerebellar Hypoplasia v0.31 TBC1D23 Zornitza Stark Publications for gene: TBC1D23 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.30 TBC1D23 Zornitza Stark Mode of inheritance for gene: TBC1D23 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.29 TBC1D23 Zornitza Stark reviewed gene: TBC1D23: Rating: GREEN; Mode of pathogenicity: None; Publications: 28823707, 28823706; Phenotypes: Pontocerebellar hypoplasia, type 11, MIM# 617695; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.116 TBC1D23 Zornitza Stark Publications for gene: TBC1D23 were set to
Ataxia v0.115 TBC1D23 Zornitza Stark reviewed gene: TBC1D23: Rating: GREEN; Mode of pathogenicity: None; Publications: 28823707, 28823706; Phenotypes: Pontocerebellar hypoplasia, type 11, MIM# 617695; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.115 TCTN1 Zornitza Stark changed review comment from: Rare cause of JBS, ataxia not specifically mentioned.; to: Rare cause of JBS, ataxia specifically mentioned in at least one individual.
Ataxia v0.115 TCTN1 Zornitza Stark edited their review of gene: TCTN1: Changed rating: GREEN
Ataxia v0.115 TCTN1 Zornitza Stark Classified gene: TCTN1 as Green List (high evidence)
Ataxia v0.115 TCTN1 Zornitza Stark Gene: tctn1 has been classified as Green List (High Evidence).
Ataxia v0.114 FLVCR1 Bryony Thompson Marked gene: FLVCR1 as ready
Ataxia v0.114 FLVCR1 Bryony Thompson Gene: flvcr1 has been classified as Green List (High Evidence).
Ataxia v0.114 FLVCR1 Bryony Thompson Classified gene: FLVCR1 as Green List (high evidence)
Ataxia v0.114 FLVCR1 Bryony Thompson Gene: flvcr1 has been classified as Green List (High Evidence).
Ataxia v0.113 FLVCR1 Bryony Thompson gene: FLVCR1 was added
gene: FLVCR1 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FLVCR1 were set to Ataxia, posterior column, with retinitis pigmentosa MIM#609033
Review for gene: FLVCR1 was set to GREEN
Added comment: Onset usually in childhood.
Sources: Expert list
Ataxia v0.112 FGF14 Bryony Thompson Marked gene: FGF14 as ready
Ataxia v0.112 FGF14 Bryony Thompson Gene: fgf14 has been classified as Green List (High Evidence).
Ataxia v0.112 FGF14 Bryony Thompson Classified gene: FGF14 as Green List (high evidence)
Ataxia v0.112 FGF14 Bryony Thompson Gene: fgf14 has been classified as Green List (High Evidence).
Ataxia v0.111 FGF14 Bryony Thompson gene: FGF14 was added
gene: FGF14 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: FGF14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FGF14 were set to Spinocerebellar ataxia 27 MIM#609307
Review for gene: FGF14 was set to GREEN
Added comment: Onset in late-childhood to early adulthood (12 to 20 years).
Sources: Expert list
Ataxia v0.110 TCTN1 Zornitza Stark Phenotypes for gene: TCTN1 were changed from Joubert syndrome 13 to Joubert syndrome 13, MIM# 614173
Ataxia v0.109 TCTN1 Zornitza Stark Publications for gene: TCTN1 were set to 31302911; 28631893; 21725307; 26477546
Ataxia v0.108 TCTN1 Zornitza Stark Publications for gene: TCTN1 were set to
Ataxia v0.107 TCTN1 Zornitza Stark Classified gene: TCTN1 as Amber List (moderate evidence)
Ataxia v0.107 TCTN1 Zornitza Stark Gene: tctn1 has been classified as Amber List (Moderate Evidence).
Ataxia v0.106 TCTN1 Zornitza Stark reviewed gene: TCTN1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31302911, 28631893, 21725307, 26477546; Phenotypes: Joubert syndrome 13, MIM# 614173; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.106 EIF2B5 Bryony Thompson Marked gene: EIF2B5 as ready
Ataxia v0.106 EIF2B5 Bryony Thompson Gene: eif2b5 has been classified as Green List (High Evidence).
Ataxia v0.106 EIF2B5 Bryony Thompson Classified gene: EIF2B5 as Green List (high evidence)
Ataxia v0.106 EIF2B5 Bryony Thompson Gene: eif2b5 has been classified as Green List (High Evidence).
Ataxia v0.105 EIF2B5 Bryony Thompson gene: EIF2B5 was added
gene: EIF2B5 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: EIF2B5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B5 were set to Leukoencephalopathy with vanishing white matter MIM#603896
Review for gene: EIF2B5 was set to GREEN
Added comment: Ataxia is a prominent feature of the condition and onset usually in late infancy or childhood (1 to 6 years).
Sources: Expert list
Ataxia v0.104 EIF2B4 Bryony Thompson Marked gene: EIF2B4 as ready
Ataxia v0.104 EIF2B4 Bryony Thompson Gene: eif2b4 has been classified as Green List (High Evidence).
Ataxia v0.104 EIF2B4 Bryony Thompson Classified gene: EIF2B4 as Green List (high evidence)
Ataxia v0.104 EIF2B4 Bryony Thompson Gene: eif2b4 has been classified as Green List (High Evidence).
Ataxia v0.103 EIF2B4 Bryony Thompson gene: EIF2B4 was added
gene: EIF2B4 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: EIF2B4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B4 were set to Leukoencephalopathy with vanishing white matter MIM#603896
Review for gene: EIF2B4 was set to GREEN
Added comment: Ataxia is a prominent feature of the condition and onset usually in late infancy or childhood (1 to 6 years).
Sources: Expert list
Ataxia v0.102 TCTN2 Zornitza Stark Marked gene: TCTN2 as ready
Ataxia v0.102 TCTN2 Zornitza Stark Gene: tctn2 has been classified as Green List (High Evidence).
Ataxia v0.102 TCTN2 Zornitza Stark Phenotypes for gene: TCTN2 were changed from Joubert syndrome 24 to Joubert syndrome 24, MIM# 616654
Ataxia v0.101 TCTN2 Zornitza Stark Publications for gene: TCTN2 were set to
Ataxia v0.100 TCTN2 Zornitza Stark reviewed gene: TCTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25118024, 21565611; Phenotypes: Joubert syndrome 24, MIM# 616654; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.100 EIF2B3 Bryony Thompson Marked gene: EIF2B3 as ready
Ataxia v0.100 EIF2B3 Bryony Thompson Gene: eif2b3 has been classified as Green List (High Evidence).
Ataxia v0.100 EIF2B3 Bryony Thompson Classified gene: EIF2B3 as Green List (high evidence)
Ataxia v0.100 EIF2B3 Bryony Thompson Gene: eif2b3 has been classified as Green List (High Evidence).
Ataxia v0.99 EIF2B3 Bryony Thompson gene: EIF2B3 was added
gene: EIF2B3 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: EIF2B3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B3 were set to Leukoencephalopathy with vanishing white matter MIM#603896
Review for gene: EIF2B3 was set to GREEN
Added comment: Ataxia is a prominent feature of the condition and onset usually in late infancy or childhood (1 to 6 years).
Sources: Expert list
Ataxia v0.98 EIF2B2 Bryony Thompson Marked gene: EIF2B2 as ready
Ataxia v0.98 EIF2B2 Bryony Thompson Gene: eif2b2 has been classified as Green List (High Evidence).
Ataxia v0.98 EIF2B2 Bryony Thompson Classified gene: EIF2B2 as Green List (high evidence)
Ataxia v0.98 EIF2B2 Bryony Thompson Gene: eif2b2 has been classified as Green List (High Evidence).
Ataxia v0.97 EIF2B2 Bryony Thompson gene: EIF2B2 was added
gene: EIF2B2 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: EIF2B2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B2 were set to Leukoencephalopathy with vanishing white matter MIM#603896
Review for gene: EIF2B2 was set to GREEN
Added comment: Ataxia is a prominent feature of the condition and onset usually in late infancy or childhood (1 to 6 years).
Sources: Expert list
Ataxia v0.96 EIF2B1 Bryony Thompson Marked gene: EIF2B1 as ready
Ataxia v0.96 EIF2B1 Bryony Thompson Gene: eif2b1 has been classified as Green List (High Evidence).
Ataxia v0.96 EIF2B1 Bryony Thompson Classified gene: EIF2B1 as Green List (high evidence)
Ataxia v0.96 EIF2B1 Bryony Thompson Gene: eif2b1 has been classified as Green List (High Evidence).
Ataxia v0.95 EIF2B1 Bryony Thompson gene: EIF2B1 was added
gene: EIF2B1 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: EIF2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B1 were set to Leukoencephalopathy with vanishing white matter MIM#603896
Review for gene: EIF2B1 was set to GREEN
Added comment: Ataxia is a prominent feature of the condition and onset usually in late infancy or childhood (1 to 6 years).
Sources: Expert list
Ataxia v0.94 COA7 Bryony Thompson Marked gene: COA7 as ready
Ataxia v0.94 COA7 Bryony Thompson Gene: coa7 has been classified as Green List (High Evidence).
Ataxia v0.94 COA7 Bryony Thompson Classified gene: COA7 as Green List (high evidence)
Ataxia v0.94 COA7 Bryony Thompson Gene: coa7 has been classified as Green List (High Evidence).
Ataxia v0.93 COA7 Bryony Thompson gene: COA7 was added
gene: COA7 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: COA7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COA7 were set to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MIM#618387
Review for gene: COA7 was set to GREEN
Added comment: Onset usually in the first decade.
Sources: Expert list
Ataxia v0.92 CACNA1G Bryony Thompson Marked gene: CACNA1G as ready
Ataxia v0.92 CACNA1G Bryony Thompson Gene: cacna1g has been classified as Green List (High Evidence).
Ataxia v0.92 CACNA1G Bryony Thompson Classified gene: CACNA1G as Green List (high evidence)
Ataxia v0.92 CACNA1G Bryony Thompson Gene: cacna1g has been classified as Green List (High Evidence).
Ataxia v0.91 CACNA1G Bryony Thompson gene: CACNA1G was added
gene: CACNA1G was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: CACNA1G was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CACNA1G were set to Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits MIM#618087
Review for gene: CACNA1G was set to GREEN
Added comment: Onset of ataxia is soon after birth or in early infancy.
Sources: Expert list
Ataxia v0.90 CACNA1A Bryony Thompson Marked gene: CACNA1A as ready
Ataxia v0.90 CACNA1A Bryony Thompson Gene: cacna1a has been classified as Green List (High Evidence).
Ataxia v0.90 CACNA1A Bryony Thompson Classified gene: CACNA1A as Green List (high evidence)
Ataxia v0.90 CACNA1A Bryony Thompson Gene: cacna1a has been classified as Green List (High Evidence).
Ataxia v0.89 CACNA1A Bryony Thompson gene: CACNA1A was added
gene: CACNA1A was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CACNA1A were set to Episodic ataxia, type 2 MIM#108500
Review for gene: CACNA1A was set to GREEN
Added comment: Onset of episodic ataxia usually in childhood or adolescence.
Sources: Expert list
Ataxia v0.88 TCTN3 Zornitza Stark Marked gene: TCTN3 as ready
Ataxia v0.88 TCTN3 Zornitza Stark Gene: tctn3 has been classified as Green List (High Evidence).
Ataxia v0.88 ATP1A3 Bryony Thompson Marked gene: ATP1A3 as ready
Ataxia v0.88 ATP1A3 Bryony Thompson Gene: atp1a3 has been classified as Green List (High Evidence).
Ataxia v0.88 TCTN3 Zornitza Stark Phenotypes for gene: TCTN3 were changed from Joubert syndrome 18 to Joubert syndrome 18, MIM# 614815; Orofaciodigital syndrome IV, MIM# 258860
Ataxia v0.87 ATP1A3 Bryony Thompson Classified gene: ATP1A3 as Green List (high evidence)
Ataxia v0.87 ATP1A3 Bryony Thompson Gene: atp1a3 has been classified as Green List (High Evidence).
Ataxia v0.86 TCTN3 Zornitza Stark Publications for gene: TCTN3 were set to
Ataxia v0.85 TCTN3 Zornitza Stark reviewed gene: TCTN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22883145, 25118024; Phenotypes: Joubert syndrome 18, MIM# 614815, Orofaciodigital syndrome IV, MIM# 258860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.85 ATP1A3 Bryony Thompson gene: ATP1A3 was added
gene: ATP1A3 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ATP1A3 were set to Alternating hemiplegia of childhood 2 MIM#614820; CAPOS syndrome MIM#601338
Review for gene: ATP1A3 was set to GREEN
Added comment: Onset of ataxia is usually in infancy or childhood.
Sources: Expert list
Mendeliome v0.2297 ATG5 Bryony Thompson Classified gene: ATG5 as Amber List (moderate evidence)
Mendeliome v0.2297 ATG5 Bryony Thompson Gene: atg5 has been classified as Amber List (Moderate Evidence).
Ataxia v0.84 ATG5 Bryony Thompson Publications for gene: ATG5 were set to 26812546
Mendeliome v0.2296 ATG5 Bryony Thompson gene: ATG5 was added
gene: ATG5 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: ATG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATG5 were set to 16625204; 26812546
Phenotypes for gene: ATG5 were set to Spinocerebellar ataxia, autosomal recessive 25 MIM#617584
Review for gene: ATG5 was set to AMBER
Added comment: A homozgyous variant was identified in a single family with two affected siblings. Mice deficient for Atg5 specifically in neural cells and Atg5 null Drosophila develop progressive deficits in motor function.
Sources: Expert list
Ataxia v0.83 ATG5 Bryony Thompson Marked gene: ATG5 as ready
Ataxia v0.83 ATG5 Bryony Thompson Gene: atg5 has been classified as Amber List (Moderate Evidence).
Ataxia v0.83 ATG5 Bryony Thompson Classified gene: ATG5 as Amber List (moderate evidence)
Ataxia v0.83 ATG5 Bryony Thompson Gene: atg5 has been classified as Amber List (Moderate Evidence).
Ataxia v0.82 ATG5 Bryony Thompson reviewed gene: ATG5: Rating: AMBER; Mode of pathogenicity: None; Publications: 16625204, 26812546; Phenotypes: Spinocerebellar ataxia, autosomal recessive 25 MIM#617584; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.82 ATM Bryony Thompson Marked gene: ATM as ready
Ataxia v0.82 ATM Bryony Thompson Gene: atm has been classified as Green List (High Evidence).
Ataxia v0.82 ATM Bryony Thompson Classified gene: ATM as Green List (high evidence)
Ataxia v0.82 ATM Bryony Thompson Gene: atm has been classified as Green List (High Evidence).
Ataxia v0.81 ATM Bryony Thompson gene: ATM was added
gene: ATM was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATM were set to Ataxia-telangiectasia MIM#208900
Review for gene: ATM was set to GREEN
Added comment: Onset of ataxia is usually in childhood.
Sources: Expert list
Ataxia v0.80 ANO10 Bryony Thompson Classified gene: ANO10 as Green List (high evidence)
Ataxia v0.80 ANO10 Bryony Thompson Gene: ano10 has been classified as Green List (High Evidence).
Ataxia v0.79 ANO10 Bryony Thompson gene: ANO10 was added
gene: ANO10 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: ANO10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ANO10 were set to Spinocerebellar ataxia, autosomal recessive 10 MIM#613728
Review for gene: ANO10 was set to GREEN
Added comment: Onset of ataxia is in adolescence or adulthood.
Sources: Expert list
Ataxia v0.78 AFG3L2 Bryony Thompson Marked gene: AFG3L2 as ready
Ataxia v0.78 AFG3L2 Bryony Thompson Gene: afg3l2 has been classified as Green List (High Evidence).
Ataxia v0.78 AFG3L2 Bryony Thompson Classified gene: AFG3L2 as Green List (high evidence)
Ataxia v0.78 AFG3L2 Bryony Thompson Gene: afg3l2 has been classified as Green List (High Evidence).
Mendeliome v0.2295 IL18BP Zornitza Stark gene: IL18BP was added
gene: IL18BP was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: IL18BP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL18BP were set to 31213488
Phenotypes for gene: IL18BP were set to {?Hepatitis, fulminant viral, susceptibility to} 618549
Review for gene: IL18BP was set to RED
Added comment: Single individual reported with homozygous 40bp deletion in this gene and fulminant Hep A hepatitis.
Sources: Expert list
Susceptibility to Viral Infections v0.35 IL18BP Zornitza Stark gene: IL18BP was added
gene: IL18BP was added to Susceptibility to Viral Infections. Sources: Expert list
Mode of inheritance for gene: IL18BP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL18BP were set to 31213488
Phenotypes for gene: IL18BP were set to {?Hepatitis, fulminant viral, susceptibility to} 618549
Review for gene: IL18BP was set to RED
Added comment: Single individual reported with homozygous 40bp deletion in this gene and fulminant Hep A hepatitis.
Sources: Expert list
Mendeliome v0.2294 IRF4 Zornitza Stark Phenotypes for gene: IRF4 were changed from to Whipple's disease; [Skin/hair/eye pigmentation, variation in, 8] 611724
Mendeliome v0.2293 IRF4 Zornitza Stark Publications for gene: IRF4 were set to
Mendeliome v0.2292 IRF4 Zornitza Stark Mode of inheritance for gene: IRF4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2291 IRF4 Zornitza Stark Classified gene: IRF4 as Red List (low evidence)
Mendeliome v0.2291 IRF4 Zornitza Stark Gene: irf4 has been classified as Red List (Low Evidence).
Mendeliome v0.2290 IRF4 Zornitza Stark reviewed gene: IRF4: Rating: RED; Mode of pathogenicity: None; Publications: 29537367; Phenotypes: Whipple's disease, [Skin/hair/eye pigmentation, variation in, 8] 611724; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia v0.77 THG1L Zornitza Stark Marked gene: THG1L as ready
Ataxia v0.77 THG1L Zornitza Stark Gene: thg1l has been classified as Green List (High Evidence).
Ataxia v0.77 THG1L Zornitza Stark Publications for gene: THG1L were set to
Ataxia v0.76 THG1L Zornitza Stark reviewed gene: THG1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 27307223, 30214071, 31168944; Phenotypes: Cerebellar ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.76 TINF2 Zornitza Stark Marked gene: TINF2 as ready
Ataxia v0.76 TINF2 Zornitza Stark Gene: tinf2 has been classified as Green List (High Evidence).
Ataxia v0.76 TINF2 Zornitza Stark Publications for gene: TINF2 were set to
Ataxia v0.75 TINF2 Zornitza Stark reviewed gene: TINF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18252230, 21477109, 18979121; Phenotypes: Revesz syndrome, MIM# 268130; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia v0.75 TMEM106B Zornitza Stark edited their review of gene: TMEM106B: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia v0.75 TMEM106B Zornitza Stark Marked gene: TMEM106B as ready
Ataxia v0.75 TMEM106B Zornitza Stark Gene: tmem106b has been classified as Green List (High Evidence).
Ataxia v0.75 TMEM106B Zornitza Stark Publications for gene: TMEM106B were set to
Ataxia v0.74 TMEM106B Zornitza Stark reviewed gene: TMEM106B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29186371, 29444210; Phenotypes: Leukodystrophy, hypomyelinating, 16, MIM# 617964; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.74 TMEM138 Zornitza Stark Marked gene: TMEM138 as ready
Ataxia v0.74 TMEM138 Zornitza Stark Gene: tmem138 has been classified as Amber List (Moderate Evidence).
Ataxia v0.74 TMEM138 Zornitza Stark Phenotypes for gene: TMEM138 were changed from Joubert syndrome 16 to Joubert syndrome 16, MIM# 614465
Ataxia v0.73 TMEM138 Zornitza Stark Classified gene: TMEM138 as Amber List (moderate evidence)
Ataxia v0.73 TMEM138 Zornitza Stark Gene: tmem138 has been classified as Amber List (Moderate Evidence).
Ataxia v0.72 TMEM138 Zornitza Stark reviewed gene: TMEM138: Rating: AMBER; Mode of pathogenicity: None; Publications: 22282472; Phenotypes: Joubert syndrome 16, MIM# 614465; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.72 TMEM216 Zornitza Stark Marked gene: TMEM216 as ready
Ataxia v0.72 TMEM216 Zornitza Stark Gene: tmem216 has been classified as Green List (High Evidence).
Ataxia v0.72 TMEM216 Zornitza Stark Phenotypes for gene: TMEM216 were changed from Joubert syndrome 2 to Joubert syndrome 2, MIM# 608091
Ataxia v0.71 TMEM216 Zornitza Stark Publications for gene: TMEM216 were set to
Ataxia v0.70 TMEM216 Zornitza Stark reviewed gene: TMEM216: Rating: GREEN; Mode of pathogenicity: None; Publications: 20036350, 20512146; Phenotypes: Joubert syndrome 2, MIM# 608091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.70 TMEM231 Zornitza Stark Marked gene: TMEM231 as ready
Ataxia v0.70 TMEM231 Zornitza Stark Gene: tmem231 has been classified as Amber List (Moderate Evidence).
Ataxia v0.70 TMEM231 Zornitza Stark Phenotypes for gene: TMEM231 were changed from Joubert syndrome 20 to Joubert syndrome 20, MIM# 614970; Meckel syndrome 11 615397
Ataxia v0.69 TMEM231 Zornitza Stark Classified gene: TMEM231 as Amber List (moderate evidence)
Ataxia v0.69 TMEM231 Zornitza Stark Gene: tmem231 has been classified as Amber List (Moderate Evidence).
Ataxia v0.68 TMEM231 Zornitza Stark reviewed gene: TMEM231: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 20, MIM# 614970, Meckel syndrome 11 615397; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.68 TMEM237 Zornitza Stark Marked gene: TMEM237 as ready
Ataxia v0.68 TMEM237 Zornitza Stark Gene: tmem237 has been classified as Green List (High Evidence).
Ataxia v0.68 TMEM237 Zornitza Stark Phenotypes for gene: TMEM237 were changed from Joubert syndrome 14 to Joubert syndrome 14, MIM# 614424
Ataxia v0.67 TMEM237 Zornitza Stark reviewed gene: TMEM237: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 14, MIM# 614424; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.67 TMEM240 Zornitza Stark Marked gene: TMEM240 as ready
Ataxia v0.67 TMEM240 Zornitza Stark Gene: tmem240 has been classified as Green List (High Evidence).
Ataxia v0.67 TMEM240 Zornitza Stark Classified gene: TMEM240 as Green List (high evidence)
Ataxia v0.67 TMEM240 Zornitza Stark Gene: tmem240 has been classified as Green List (High Evidence).
Ataxia v0.66 TMEM240 Zornitza Stark gene: TMEM240 was added
gene: TMEM240 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: TMEM240 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TMEM240 were set to 25070513
Phenotypes for gene: TMEM240 were set to Spinocerebellar ataxia 21, MIM# 607454
Review for gene: TMEM240 was set to GREEN
Added comment: At least 8 unrelated families reported. Onset in the first decades of life, including in childhood, of slowly progressive cerebellar ataxia, which is associated with cognitive impairment in most patients
Sources: Expert list
Ataxia v0.65 TMEM67 Zornitza Stark Marked gene: TMEM67 as ready
Ataxia v0.65 TMEM67 Zornitza Stark Gene: tmem67 has been classified as Green List (High Evidence).
Ataxia v0.65 TMEM67 Zornitza Stark Phenotypes for gene: TMEM67 were changed from Joubert syndrome 6 to Joubert syndrome 6, MIM# 610688
Ataxia v0.64 TMEM67 Zornitza Stark reviewed gene: TMEM67: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 6, MIM# 610688; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.64 TSFM Zornitza Stark Marked gene: TSFM as ready
Ataxia v0.64 TSFM Zornitza Stark Gene: tsfm has been classified as Green List (High Evidence).
Ataxia v0.64 TSFM Zornitza Stark reviewed gene: TSFM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 3, MIM# 610505; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.64 AFG3L2 Bryony Thompson gene: AFG3L2 was added
gene: AFG3L2 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: AFG3L2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: AFG3L2 were set to 20725928
Phenotypes for gene: AFG3L2 were set to Spastic ataxia 5, autosomal recessive MIM#614487; Spinocerebellar ataxia 28 MIM#610246
Review for gene: AFG3L2 was set to GREEN
Added comment: The onset of the recessive form of ataxia is usually in infancy or childhood. The dominantly inherited form of ataxia is mostly adult onset, but onset in childhood has been reported.
Sources: Expert list
Ataxia v0.63 TTPA Zornitza Stark Marked gene: TTPA as ready
Ataxia v0.63 TTPA Zornitza Stark Gene: ttpa has been classified as Green List (High Evidence).
Ataxia v0.63 TTPA Zornitza Stark Classified gene: TTPA as Green List (high evidence)
Ataxia v0.63 TTPA Zornitza Stark Gene: ttpa has been classified as Green List (High Evidence).
Ataxia v0.62 TTPA Zornitza Stark gene: TTPA was added
gene: TTPA was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: TTPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTPA were set to Ataxia with isolated vitamin E deficiency, MIM# 277460
Review for gene: TTPA was set to GREEN
Added comment: Ataxia secondary to vitamin E deficiency. Variable age of onset, but paediatric cases reported.
Sources: Expert list
Ataxia v0.61 UBA5 Zornitza Stark Marked gene: UBA5 as ready
Ataxia v0.61 UBA5 Zornitza Stark Gene: uba5 has been classified as Amber List (Moderate Evidence).
Ataxia v0.61 UBA5 Zornitza Stark Classified gene: UBA5 as Amber List (moderate evidence)
Ataxia v0.61 UBA5 Zornitza Stark Gene: uba5 has been classified as Amber List (Moderate Evidence).
Ataxia v0.60 UBA5 Zornitza Stark reviewed gene: UBA5: Rating: AMBER; Mode of pathogenicity: None; Publications: 26872069, 27545681, 27545674; Phenotypes: Spinocerebellar ataxia, autosomal recessive 24, MIM# 617133, Epileptic encephalopathy, early infantile, 44 617132; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.60 VPS13D Zornitza Stark Marked gene: VPS13D as ready
Ataxia v0.60 VPS13D Zornitza Stark Gene: vps13d has been classified as Green List (High Evidence).
Ataxia v0.60 VPS13D Zornitza Stark Classified gene: VPS13D as Green List (high evidence)
Ataxia v0.60 VPS13D Zornitza Stark Gene: vps13d has been classified as Green List (High Evidence).
Ataxia v0.59 VPS13D Zornitza Stark gene: VPS13D was added
gene: VPS13D was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: VPS13D was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS13D were set to 29604224; 29518281
Phenotypes for gene: VPS13D were set to Spinocerebellar ataxia, autosomal recessive 4, MIM# 607317
Review for gene: VPS13D was set to GREEN
Added comment: Seven unrelated families reported, some functional data. Age at onset is highly variable: some have onset in early childhood with delayed walking, whereas others have onset of gait difficulties in adulthood. Additional features may include dysarthria, oculomotor abnormalities, distal sensory impairment, dystonia, chorea, hypotonia, pyramidal signs, and cerebellar atrophy on brain imaging. The disorder is slowly progressive. Some individuals with onset in childhood may have global developmental delay with mild intellectual disability.
Sources: Expert list
Ataxia v0.58 VRK1 Zornitza Stark Marked gene: VRK1 as ready
Ataxia v0.58 VRK1 Zornitza Stark Gene: vrk1 has been classified as Amber List (Moderate Evidence).
Ataxia v0.58 VRK1 Zornitza Stark Publications for gene: VRK1 were set to
Ataxia v0.57 VRK1 Zornitza Stark Classified gene: VRK1 as Amber List (moderate evidence)
Ataxia v0.57 VRK1 Zornitza Stark Gene: vrk1 has been classified as Amber List (Moderate Evidence).
Ataxia v0.56 VRK1 Zornitza Stark reviewed gene: VRK1: Rating: AMBER; Mode of pathogenicity: None; Publications: 19646678, 21937992, 25609612, 24126608, 27281532; Phenotypes: Pontocerebellar hypoplasia type 1A, MIM# 607596; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.56 ABHD12 Bryony Thompson Classified gene: ABHD12 as Green List (high evidence)
Ataxia v0.56 ABHD12 Bryony Thompson Gene: abhd12 has been classified as Green List (High Evidence).
Ataxia v0.55 ABHD12 Bryony Thompson gene: ABHD12 was added
gene: ABHD12 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: ABHD12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABHD12 were set to Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MIM#612674
Review for gene: ABHD12 was set to GREEN
Added comment: Ataxia is a prominent feature of the condition and onset is usually in childhood or adolescence.
Sources: Expert list
Ataxia v0.54 AAAS Bryony Thompson Classified gene: AAAS as Green List (high evidence)
Ataxia v0.54 AAAS Bryony Thompson Gene: aaas has been classified as Green List (High Evidence).
Ataxia v0.53 AAAS Bryony Thompson gene: AAAS was added
gene: AAAS was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AAAS were set to Achalasia-addisonianism-alacrimia syndrome MIM#231550
Review for gene: AAAS was set to GREEN
Added comment: Ataxia is a feature of the condition and onset is usually in childhood.
Sources: Expert list
Familial hypercholesterolaemia v0.8 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Optic Atrophy v0.99 MFN2 Zornitza Stark Marked gene: MFN2 as ready
Optic Atrophy v0.99 MFN2 Zornitza Stark Gene: mfn2 has been classified as Green List (High Evidence).
Optic Atrophy v0.99 MFN2 Zornitza Stark Marked gene: MFN2 as ready
Optic Atrophy v0.99 MFN2 Zornitza Stark Gene: mfn2 has been classified as Green List (High Evidence).
Optic Atrophy v0.99 MFN2 Zornitza Stark Phenotypes for gene: MFN2 were changed from to Charcot-Marie-Tooth disease, axonal, type 2A2A, MIM# 609260; Charcot-Marie-Tooth disease, axonal, type 2A2B, MIM# 61708, Hereditary motor and sensory neuropathy VIA, MIM# 601152
Optic Atrophy v0.98 MFN2 Zornitza Stark Mode of inheritance for gene: MFN2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Optic Atrophy v0.97 MFN2 Zornitza Stark reviewed gene: MFN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2A2A, MIM# 609260, Charcot-Marie-Tooth disease, axonal, type 2A2B, MIM# 61708, Hereditary motor and sensory neuropathy VIA, MIM# 601152; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Optic Atrophy v0.97 ACO2 Zornitza Stark Marked gene: ACO2 as ready
Optic Atrophy v0.97 ACO2 Zornitza Stark Gene: aco2 has been classified as Green List (High Evidence).
Optic Atrophy v0.97 ACO2 Zornitza Stark Phenotypes for gene: ACO2 were changed from to Optic atrophy 9, MIM# 616289; Infantile cerebellar-retinal degeneration, MIM# 614559
Optic Atrophy v0.96 ACO2 Zornitza Stark Publications for gene: ACO2 were set to
Optic Atrophy v0.95 ACO2 Zornitza Stark Mode of inheritance for gene: ACO2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.94 ACO2 Zornitza Stark reviewed gene: ACO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25351951, 22405087; Phenotypes: Optic atrophy 9, MIM# 616289, Infantile cerebellar-retinal degeneration, MIM# 614559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.94 WFS1 Zornitza Stark Phenotypes for gene: WFS1 were changed from Wolfram syndrome 1, autosomal recessive, MIM# 222300; Wolfram-like syndrome, autosomal dominant 61, MIM#Wolfram syndrome 1, autosomal recessive, MIM# 222300; Wolfram-like syndrome, autosomal dominant, MIM#614296 to Wolfram syndrome 1, autosomal recessive, MIM# 222300; Wolfram-like syndrome, autosomal dominant, MIM#614296
Optic Atrophy v0.93 WFS1 Zornitza Stark Marked gene: WFS1 as ready
Optic Atrophy v0.93 WFS1 Zornitza Stark Gene: wfs1 has been classified as Green List (High Evidence).
Optic Atrophy v0.93 WFS1 Zornitza Stark Phenotypes for gene: WFS1 were changed from to Wolfram syndrome 1, autosomal recessive, MIM# 222300; Wolfram-like syndrome, autosomal dominant 61, MIM#Wolfram syndrome 1, autosomal recessive, MIM# 222300; Wolfram-like syndrome, autosomal dominant, MIM#614296
Optic Atrophy v0.92 WFS1 Zornitza Stark Mode of inheritance for gene: WFS1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Optic Atrophy v0.91 WFS1 Zornitza Stark reviewed gene: WFS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Wolfram syndrome 1, autosomal recessive, MIM# 222300, Wolfram-like syndrome, autosomal dominant 61, MIM#4296; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Optic Atrophy v0.91 SSBP1 Zornitza Stark Marked gene: SSBP1 as ready
Optic Atrophy v0.91 SSBP1 Zornitza Stark Gene: ssbp1 has been classified as Green List (High Evidence).
Optic Atrophy v0.91 TBCD Zornitza Stark Marked gene: TBCD as ready
Optic Atrophy v0.91 TBCD Zornitza Stark Gene: tbcd has been classified as Amber List (Moderate Evidence).
Optic Atrophy v0.91 TBCD Zornitza Stark Phenotypes for gene: TBCD were changed from to Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193
Optic Atrophy v0.90 TBCD Zornitza Stark Publications for gene: TBCD were set to
Optic Atrophy v0.89 TBCD Zornitza Stark Mode of inheritance for gene: TBCD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.88 TBCD Zornitza Stark Classified gene: TBCD as Amber List (moderate evidence)
Optic Atrophy v0.88 TBCD Zornitza Stark Gene: tbcd has been classified as Amber List (Moderate Evidence).
Optic Atrophy v0.87 TBCD Zornitza Stark changed review comment from: 15 children from 9 unrelated families with bi-allelic variants in this gene and a progressive neurodegenerative encephalopathy.
Sources: Expert Review; to: 15 children from 9 unrelated families with bi-allelic variants in this gene and a progressive neurodegenerative encephalopathy. Optic atrophy is not a consistent or prominent feature of this disorder.
Sources: Expert Review
Optic Atrophy v0.87 TBCD Zornitza Stark edited their review of gene: TBCD: Changed rating: AMBER
Cerebellar and Pontocerebellar Hypoplasia v0.29 AUTS2 Zornitza Stark Marked gene: AUTS2 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.29 AUTS2 Zornitza Stark Gene: auts2 has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.29 WDR37 Zornitza Stark Marked gene: WDR37 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.29 WDR37 Zornitza Stark Gene: wdr37 has been classified as Green List (High Evidence).
Optic Atrophy v0.87 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Cerebellar and Pontocerebellar Hypoplasia v0.29 ADGRG1 Zornitza Stark Marked gene: ADGRG1 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.29 ADGRG1 Zornitza Stark Gene: adgrg1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.29 ADGRG1 Zornitza Stark Classified gene: ADGRG1 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.29 ADGRG1 Zornitza Stark Gene: adgrg1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.28 AUTS2 Zornitza Stark Phenotypes for gene: AUTS2 were changed from Mental retardation, autosomal dominant 26, MIM# 615834 to Mental retardation, autosomal dominant 26, MIM# 615834
Cerebellar and Pontocerebellar Hypoplasia v0.28 WDR81 Zornitza Stark Marked gene: WDR81 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.28 WDR81 Zornitza Stark Gene: wdr81 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.28 WDR81 Zornitza Stark Classified gene: WDR81 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.28 WDR81 Zornitza Stark Gene: wdr81 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.27 WDR37 Zornitza Stark Phenotypes for gene: WDR37 were changed from to Neurooculocardiogenitourinary syndrome (MIM#618652)
Cerebellar and Pontocerebellar Hypoplasia v0.27 AUTS2 Zornitza Stark Phenotypes for gene: AUTS2 were changed from to Mental retardation, autosomal dominant 26, MIM# 615834
Cerebellar and Pontocerebellar Hypoplasia v0.27 WDR37 Zornitza Stark Publications for gene: WDR37 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.26 CA8 Zornitza Stark Marked gene: CA8 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.26 CA8 Zornitza Stark Gene: ca8 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.26 AUTS2 Zornitza Stark Publications for gene: AUTS2 were set to 17211639; 27075013; 22872102
Cerebellar and Pontocerebellar Hypoplasia v0.26 AUTS2 Zornitza Stark Publications for gene: AUTS2 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.25 AUTS2 Zornitza Stark Mode of inheritance for gene: AUTS2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebellar and Pontocerebellar Hypoplasia v0.24 AUTS2 Zornitza Stark Classified gene: AUTS2 as Red List (low evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.24 AUTS2 Zornitza Stark Gene: auts2 has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.23 AUTS2 Zornitza Stark Classified gene: AUTS2 as Amber List (moderate evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.23 AUTS2 Zornitza Stark Gene: auts2 has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.22 AUTS2 Zornitza Stark Tag SV/CNV tag was added to gene: AUTS2.
Cerebellar and Pontocerebellar Hypoplasia v0.22 WDR37 Zornitza Stark Mode of inheritance for gene: WDR37 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebellar and Pontocerebellar Hypoplasia v0.21 B3GALNT2 Zornitza Stark Marked gene: B3GALNT2 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.21 B3GALNT2 Zornitza Stark Gene: b3galnt2 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.21 B3GALNT2 Zornitza Stark Classified gene: B3GALNT2 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.21 B3GALNT2 Zornitza Stark Gene: b3galnt2 has been classified as Green List (High Evidence).
Optic Atrophy v0.86 PLAA Zornitza Stark Marked gene: PLAA as ready
Optic Atrophy v0.86 PLAA Zornitza Stark Gene: plaa has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.20 CA8 Zornitza Stark Classified gene: CA8 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.20 CA8 Zornitza Stark Gene: ca8 has been classified as Green List (High Evidence).
Optic Atrophy v0.86 PLAA Zornitza Stark Phenotypes for gene: PLAA were changed from to Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies (MIM#617527)
Optic Atrophy v0.85 RTN4IP1 Zornitza Stark Marked gene: RTN4IP1 as ready
Optic Atrophy v0.85 RTN4IP1 Zornitza Stark Gene: rtn4ip1 has been classified as Green List (High Evidence).
Optic Atrophy v0.85 PLAA Zornitza Stark Publications for gene: PLAA were set to
Optic Atrophy v0.84 SLC52A2 Zornitza Stark Marked gene: SLC52A2 as ready
Optic Atrophy v0.84 SLC52A2 Zornitza Stark Gene: slc52a2 has been classified as Green List (High Evidence).
Optic Atrophy v0.84 RTN4IP1 Zornitza Stark Classified gene: RTN4IP1 as Green List (high evidence)
Optic Atrophy v0.84 RTN4IP1 Zornitza Stark Gene: rtn4ip1 has been classified as Green List (High Evidence).
Optic Atrophy v0.83 PBX1 Zornitza Stark Marked gene: PBX1 as ready
Optic Atrophy v0.83 PBX1 Zornitza Stark Added comment: Comment when marking as ready: Agree, cannot find evidence of association with OA.
Optic Atrophy v0.83 PBX1 Zornitza Stark Gene: pbx1 has been classified as Red List (Low Evidence).
Optic Atrophy v0.83 PLAA Zornitza Stark Mode of inheritance for gene: PLAA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.82 PLAA Zornitza Stark Classified gene: PLAA as Amber List (moderate evidence)
Optic Atrophy v0.82 PLAA Zornitza Stark Gene: plaa has been classified as Amber List (Moderate Evidence).
Optic Atrophy v0.81 PBX1 Zornitza Stark Phenotypes for gene: PBX1 were changed from to Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
Optic Atrophy v0.80 MFF Zornitza Stark Marked gene: MFF as ready
Optic Atrophy v0.80 MFF Zornitza Stark Added comment: Comment when marking as ready: Optic atrophy is a common feature of this mitochondrial disorder.
Optic Atrophy v0.80 MFF Zornitza Stark Gene: mff has been classified as Green List (High Evidence).
Optic Atrophy v0.80 MFF Zornitza Stark Classified gene: MFF as Green List (high evidence)
Optic Atrophy v0.80 MFF Zornitza Stark Gene: mff has been classified as Green List (High Evidence).
Optic Atrophy v0.79 SLC52A2 Zornitza Stark Classified gene: SLC52A2 as Green List (high evidence)
Optic Atrophy v0.79 SLC52A2 Zornitza Stark Gene: slc52a2 has been classified as Green List (High Evidence).
Optic Atrophy v0.78 FDXR Zornitza Stark Marked gene: FDXR as ready
Optic Atrophy v0.78 FDXR Zornitza Stark Gene: fdxr has been classified as Green List (High Evidence).
Optic Atrophy v0.78 PBX1 Zornitza Stark Publications for gene: PBX1 were set to
Optic Atrophy v0.77 AFG3L2 Zornitza Stark Marked gene: AFG3L2 as ready
Optic Atrophy v0.77 AFG3L2 Zornitza Stark Added comment: Comment when marking as ready: Please note OA has only been associated with a specific variant in this gene, R468C. The variant is de novo in some of the families, suggesting a hotspot rather than founder effect.
Optic Atrophy v0.77 AFG3L2 Zornitza Stark Gene: afg3l2 has been classified as Green List (High Evidence).
Optic Atrophy v0.77 PBX1 Zornitza Stark Mode of inheritance for gene: PBX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Optic Atrophy v0.77 FDXR Zornitza Stark Phenotypes for gene: FDXR were changed from to Auditory neuropathy and optic atrophy, MIM#617717
Optic Atrophy v0.76 PBX1 Zornitza Stark Classified gene: PBX1 as Red List (low evidence)
Optic Atrophy v0.76 PBX1 Zornitza Stark Gene: pbx1 has been classified as Red List (Low Evidence).
Optic Atrophy v0.75 FDXR Zornitza Stark Publications for gene: FDXR were set to
Optic Atrophy v0.74 FDXR Zornitza Stark Mode of inheritance for gene: FDXR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.73 AFG3L2 Zornitza Stark Phenotypes for gene: AFG3L2 were changed from to Spastic ataxia 5, autosomal recessive (MIM#614487); Spinocerebellar ataxia 28 (MIM#610246)
Optic Atrophy v0.72 TIMM8A Zornitza Stark Marked gene: TIMM8A as ready
Optic Atrophy v0.72 TIMM8A Zornitza Stark Gene: timm8a has been classified as Amber List (Moderate Evidence).
Optic Atrophy v0.72 TIMM8A Zornitza Stark Phenotypes for gene: TIMM8A were changed from to Mohr-Tranebjaerg syndrome (MIM#304700)
Optic Atrophy v0.71 AFG3L2 Zornitza Stark Publications for gene: AFG3L2 were set to
Optic Atrophy v0.70 AFG3L2 Zornitza Stark Mode of inheritance for gene: AFG3L2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Optic Atrophy v0.69 TIMM8A Zornitza Stark Publications for gene: TIMM8A were set to
Optic Atrophy v0.68 C19orf12 Zornitza Stark Marked gene: C19orf12 as ready
Optic Atrophy v0.68 C19orf12 Zornitza Stark Added comment: Comment when marking as ready: OA associated both with mono-allelic and bi-allelic variants in this gene, and has been reported in families both with SPG and NBIA.
Optic Atrophy v0.68 C19orf12 Zornitza Stark Gene: c19orf12 has been classified as Green List (High Evidence).
Optic Atrophy v0.68 C19orf12 Zornitza Stark Classified gene: C19orf12 as Green List (high evidence)
Optic Atrophy v0.68 C19orf12 Zornitza Stark Gene: c19orf12 has been classified as Green List (High Evidence).
Optic Atrophy v0.67 TIMM8A Zornitza Stark Mode of inheritance for gene: TIMM8A was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Optic Atrophy v0.66 TIMM8A Zornitza Stark Classified gene: TIMM8A as Amber List (moderate evidence)
Optic Atrophy v0.66 TIMM8A Zornitza Stark Gene: timm8a has been classified as Amber List (Moderate Evidence).
Optic Atrophy v0.65 POLG Zornitza Stark Marked gene: POLG as ready
Optic Atrophy v0.65 POLG Zornitza Stark Added comment: Comment when marking as ready: Note there is only evidence for association between bi-allelic variants and OA, and even so, the evidence is limited.
Optic Atrophy v0.65 POLG Zornitza Stark Gene: polg has been classified as Amber List (Moderate Evidence).
Optic Atrophy v0.65 POLG Zornitza Stark Phenotypes for gene: POLG were changed from to Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700; Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459; Progressive external ophthalmoplegia, autosomal recessive 1 258450
Optic Atrophy v0.64 POLG Zornitza Stark Publications for gene: POLG were set to
Optic Atrophy v0.63 POLG Zornitza Stark Mode of inheritance for gene: POLG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.62 POLG Zornitza Stark Classified gene: POLG as Amber List (moderate evidence)
Optic Atrophy v0.62 POLG Zornitza Stark Gene: polg has been classified as Amber List (Moderate Evidence).
Optic Atrophy v0.61 DNM1L Zornitza Stark Marked gene: DNM1L as ready
Optic Atrophy v0.61 DNM1L Zornitza Stark Gene: dnm1l has been classified as Green List (High Evidence).
Optic Atrophy v0.61 DNM1L Zornitza Stark Classified gene: DNM1L as Green List (high evidence)
Optic Atrophy v0.61 DNM1L Zornitza Stark Gene: dnm1l has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.3 SLC18A2 Zornitza Stark Marked gene: SLC18A2 as ready
Neurotransmitter Defects v0.3 SLC18A2 Zornitza Stark Gene: slc18a2 has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.3 SLC18A2 Zornitza Stark Classified gene: SLC18A2 as Green List (high evidence)
Neurotransmitter Defects v0.3 SLC18A2 Zornitza Stark Gene: slc18a2 has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.2 SLC18A2 Zornitza Stark gene: SLC18A2 was added
gene: SLC18A2 was added to Neurotransmitter Defects. Sources: Expert Review
Mode of inheritance for gene: SLC18A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC18A2 were set to 23363473; 31240161; 26497564; 9427250; 11463816; 9427251
Phenotypes for gene: SLC18A2 were set to Parkinsonism-dystonia, infantile, 2, MIM# 618049
Review for gene: SLC18A2 was set to GREEN
Added comment: At least three unrelated families reported, potential treatment implications. Associated with intellectual disability and epilepsy as well as prominent movement disorder. Three mouse models.
Sources: Expert Review
Dystonia and Chorea v0.62 SLC18A2 Zornitza Stark Marked gene: SLC18A2 as ready
Dystonia and Chorea v0.62 SLC18A2 Zornitza Stark Gene: slc18a2 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.62 SLC18A2 Zornitza Stark Classified gene: SLC18A2 as Green List (high evidence)
Dystonia and Chorea v0.62 SLC18A2 Zornitza Stark Gene: slc18a2 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.61 SLC18A2 Zornitza Stark gene: SLC18A2 was added
gene: SLC18A2 was added to Dystonia - complex. Sources: Expert Review
Mode of inheritance for gene: SLC18A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC18A2 were set to 23363473; 31240161; 26497564
Phenotypes for gene: SLC18A2 were set to Parkinsonism-dystonia, infantile, 2, MIM# 618049
Review for gene: SLC18A2 was set to GREEN
Added comment: At least three unrelated families reported, potential treatment implications. Associated with intellectual disability and epilepsy as well as prominent movement disorder.
Sources: Expert Review
Mendeliome v0.2290 ACOX2 Zornitza Stark Marked gene: ACOX2 as ready
Mendeliome v0.2290 ACOX2 Zornitza Stark Added comment: Comment when marking as ready: The ACOX2 gene encodes a peroxisomal branched-chain acyl-CoA oxidase involved in bile acid synthesis.
Mendeliome v0.2290 ACOX2 Zornitza Stark Gene: acox2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2290 ACOX2 Zornitza Stark Classified gene: ACOX2 as Amber List (moderate evidence)
Mendeliome v0.2290 ACOX2 Zornitza Stark Gene: acox2 has been classified as Amber List (Moderate Evidence).
Peroxisomal Disorders v0.2 ACOX2 Zornitza Stark changed review comment from: Comment when marking as ready: Two unrelated families reported.; to: Comment when marking as ready: Two unrelated families reported. The ACOX2 gene encodes a peroxisomal branched-chain acyl-CoA oxidase involved in bile acid synthesis.
Mendeliome v0.2289 ACOX2 Zornitza Stark gene: ACOX2 was added
gene: ACOX2 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: ACOX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACOX2 were set to 27647924; 27884763
Phenotypes for gene: ACOX2 were set to Bile acid synthesis defect, congenital, 6, 617308
Review for gene: ACOX2 was set to AMBER
Added comment: Two unrelated families reported.
Sources: Expert Review
Peroxisomal Disorders v0.2 ACOX2 Zornitza Stark Marked gene: ACOX2 as ready
Peroxisomal Disorders v0.2 ACOX2 Zornitza Stark Added comment: Comment when marking as ready: Two unrelated families reported.
Peroxisomal Disorders v0.2 ACOX2 Zornitza Stark Gene: acox2 has been classified as Amber List (Moderate Evidence).
Peroxisomal Disorders v0.2 ACOX2 Zornitza Stark Classified gene: ACOX2 as Amber List (moderate evidence)
Peroxisomal Disorders v0.2 ACOX2 Zornitza Stark Gene: acox2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2288 LARS Zornitza Stark Marked gene: LARS as ready
Mendeliome v0.2288 LARS Zornitza Stark Gene: lars has been classified as Green List (High Evidence).
Mendeliome v0.2288 LARS Zornitza Stark Classified gene: LARS as Green List (high evidence)
Mendeliome v0.2288 LARS Zornitza Stark Gene: lars has been classified as Green List (High Evidence).
Mendeliome v0.2287 LARS Zornitza Stark gene: LARS was added
gene: LARS was added to Mendeliome. Sources: NHS GMS
Mode of inheritance for gene: LARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LARS were set to 28774368; 30349989; 22607940
Phenotypes for gene: LARS were set to Infantile liver failure syndrome 1, MIM# 615438
Review for gene: LARS was set to GREEN
gene: LARS was marked as current diagnostic
Added comment: Six unrelated families reported in the literature, reviewed in PMID: 30349989.
Sources: NHS GMS
Cholestasis v0.8 LARS Zornitza Stark Marked gene: LARS as ready
Cholestasis v0.8 LARS Zornitza Stark Gene: lars has been classified as Green List (High Evidence).
Cholestasis v0.8 LARS Zornitza Stark Phenotypes for gene: LARS were changed from ?Infantile liver failure syndrome 1, 615438 to Infantile liver failure syndrome 1, MIM# 615438
Cholestasis v0.7 LARS Zornitza Stark Classified gene: LARS as Green List (high evidence)
Cholestasis v0.7 LARS Zornitza Stark Gene: lars has been classified as Green List (High Evidence).
Cholestasis v0.6 LARS Zornitza Stark reviewed gene: LARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 30349989; Phenotypes: Infantile liver failure syndrome 1, MIM# 615438; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Peroxisomal Disorders v0.1 ACOX2 Anna Le Fevre gene: ACOX2 was added
gene: ACOX2 was added to Peroxisomal Disorders. Sources: Expert Review
Mode of inheritance for gene: ACOX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACOX2 were set to 27647924; 27884763
Phenotypes for gene: ACOX2 were set to Bile acid synthesis defect, congenital, 6, 617308
Review for gene: ACOX2 was set to AMBER
Added comment: Sources: Expert Review
Cholestasis v0.6 LARS Anna Le Fevre reviewed gene: LARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 28774368, 30349989, 22607940; Phenotypes: ?Infantile liver failure syndrome 1, 615438; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.6 LARS Anna Le Fevre Deleted their review
Cholestasis v0.6 LARS Anna Le Fevre Deleted their comment
Cholestasis v0.6 LARS Anna Le Fevre Deleted their comment
Cholestasis v0.6 LARS Anna Le Fevre commented on gene: LARS: Multiple families with variable ethnicity have been reported with this phenotype.
Cholestasis v0.6 LARS Anna Le Fevre gene: LARS was added
gene: LARS was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: LARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LARS were set to 28774368; 30349989; 22607940
Phenotypes for gene: LARS were set to ?Infantile liver failure syndrome 1, 615438
Review for gene: LARS was set to GREEN
Added comment: Sources: NHS GMS
Mendeliome v0.2286 KCNJ11 Zornitza Stark Marked gene: KCNJ11 as ready
Mendeliome v0.2286 KCNJ11 Zornitza Stark Gene: kcnj11 has been classified as Green List (High Evidence).
Mendeliome v0.2286 KCNJ11 Zornitza Stark Phenotypes for gene: KCNJ11 were changed from to {Diabetes mellitus, type 2, susceptibility to} 125853; Diabetes mellitus, transient neonatal, 3 610582; Diabetes, permanent neonatal, with or without neurologic features 606176; Hyperinsulinemic hypoglycemia, familial, 2 601820; Maturity-onset diabetes of the young, type 13 616329 AD
Mendeliome v0.2285 KCNJ11 Zornitza Stark Publications for gene: KCNJ11 were set to
Mendeliome v0.2284 KCNJ11 Zornitza Stark Mode of pathogenicity for gene: KCNJ11 was changed from to Other
Mendeliome v0.2283 KCNJ11 Zornitza Stark Mode of inheritance for gene: KCNJ11 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.19 CA8 Elena Savva gene: CA8 was added
gene: CA8 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: CA8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CA8 were set to PMID: 31693170; 19461874; 23087022
Phenotypes for gene: CA8 were set to Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 613227
Added comment: Cerebellar ataxia listed in OMIM

PMID: 31693170, VCGS publication - 1 child with homozygous PTC and progressive cerebellar atrophy, poor oromotor coordination, marked cerebellar dysarthria. Paper reviews other findings for this gene (very few) and notes MRI findings of one additional patient with cerebellar hypoplasia, and another with cerebellar volume loss. Another patient is reported with cerebellar ataxia but had no MRI (PMID: 19461874).

PMID: 23087022 - zebrafish mutant models demonstrate increased neuronal cell death in the cerebellum, lost cerebellar volume
Sources: Expert Review
Cerebellar and Pontocerebellar Hypoplasia v0.19 B3GALNT2 Elena Savva gene: B3GALNT2 was added
gene: B3GALNT2 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: B3GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B3GALNT2 were set to PMID: 23453667; 29791932
Phenotypes for gene: B3GALNT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 615181
Review for gene: B3GALNT2 was set to GREEN
Added comment: PMID: 23453667 - 5 unrelated patients reviewed, all less than 2 years old. Pontocerebellar hypoplasia reported in 2/5, cerebellar dysplasia in 2/5.

PMID: 29791932 - 1 patient w/ pontocerebellar hypoplasia. Reviews previous reports and notes an additional two patients with hypoplastic pons and cerebellar cysts
Sources: Expert Review
Cerebellar and Pontocerebellar Hypoplasia v0.19 WDR37 Crystle Lee reviewed gene: WDR37: Rating: GREEN; Mode of pathogenicity: None; Publications: 31327508; Phenotypes: Neurooculocardiogenitourinary syndrome (MIM#618652); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cerebellar and Pontocerebellar Hypoplasia v0.19 AUTS2 Elena Savva reviewed gene: AUTS2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 17211639, 27075013, 22872102; Phenotypes: Mental retardation, autosomal dominant 26 615834; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cerebellar and Pontocerebellar Hypoplasia v0.19 WDR81 Crystle Lee gene: WDR81 was added
gene: WDR81 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: WDR81 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR81 were set to 25558065; 21885617
Phenotypes for gene: WDR81 were set to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
Review for gene: WDR81 was set to GREEN
Added comment: Associated with cerebellar hypoplasia

PMID: 25558065; Alazami 2015: 1 hom missense reported. Severe cerebellar hypoplasia noted as cause of death. No additional information.
PMID: 21885617: Gulsuner 2011: Hom missense reported in a large consang family as the cause of cerebellar hypoplasia
Komara 2016: 2 sibs in consang fam.
Sources: Expert Review
Cataract v0.131 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Cataract v0.130 STXBP2 Bryony Thompson Classified gene: STXBP2 as Red List (low evidence)
Cataract v0.130 STXBP2 Bryony Thompson Gene: stxbp2 has been classified as Red List (Low Evidence).
Cataract v0.129 STXBP2 Bryony Thompson reviewed gene: STXBP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemophagocytic lymphohistiocytosis, familial, 5 MIM#613101; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.129 SLC37A4 Bryony Thompson Marked gene: SLC37A4 as ready
Cataract v0.129 SLC37A4 Bryony Thompson Gene: slc37a4 has been classified as Red List (Low Evidence).
Cataract v0.129 SLC37A4 Bryony Thompson Classified gene: SLC37A4 as Red List (low evidence)
Cataract v0.129 SLC37A4 Bryony Thompson Gene: slc37a4 has been classified as Red List (Low Evidence).
Cataract v0.128 SLC37A4 Bryony Thompson reviewed gene: SLC37A4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease Ib MIM#232220, Glycogen storage disease Ic MIM#232240; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.128 SKIV2L Bryony Thompson Marked gene: SKIV2L as ready
Cataract v0.128 SKIV2L Bryony Thompson Gene: skiv2l has been classified as Red List (Low Evidence).
Cataract v0.128 SKIV2L Bryony Thompson Classified gene: SKIV2L as Red List (low evidence)
Cataract v0.128 SKIV2L Bryony Thompson Gene: skiv2l has been classified as Red List (Low Evidence).
Cataract v0.127 SKIV2L Bryony Thompson reviewed gene: SKIV2L: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Trichohepatoenteric syndrome 2 MIM#614602; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.19 ADGRG1 Elena Savva gene: ADGRG1 was added
gene: ADGRG1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: ADGRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADGRG1 were set to PMID: 20929962; 16240336
Phenotypes for gene: ADGRG1 were set to Polymicrogyria, bilateral frontoparietal 606854; Polymicrogyria, bilateral perisylvian 615752
Review for gene: ADGRG1 was set to GREEN
Added comment: aka GPR56

PMID: 15044805 - paper linked from PanelApp UK - no patients with relevant phenotype

PMID: 20929962 - terminated fetus with agenesis of the cerebellar vermis and hypoplastic cerebellar hemispheres, was homozygous for a missense. Cerebellar dysplasia was observed in all patients (13/13), with vermis involvement in 11/13 patients. Hypoplasia with flattening of the ventral portion of the pons at the level of the middle cerebellar peduncle was detected in all patients

PMID: 16240336 - 17/18 families show brainstem/cerebellar hypoplasia
Sources: Expert Review
Mendeliome v0.2282 SIPA1L3 Bryony Thompson Marked gene: SIPA1L3 as ready
Mendeliome v0.2282 SIPA1L3 Bryony Thompson Gene: sipa1l3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2282 SIPA1L3 Bryony Thompson Classified gene: SIPA1L3 as Amber List (moderate evidence)
Mendeliome v0.2282 SIPA1L3 Bryony Thompson Gene: sipa1l3 has been classified as Amber List (Moderate Evidence).
Cataract v0.127 SIPA1L3 Bryony Thompson Marked gene: SIPA1L3 as ready
Cataract v0.127 SIPA1L3 Bryony Thompson Gene: sipa1l3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2281 SIPA1L3 Bryony Thompson gene: SIPA1L3 was added
gene: SIPA1L3 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: SIPA1L3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SIPA1L3 were set to 28951961; 27993984; 25804400
Phenotypes for gene: SIPA1L3 were set to Cataract 45 MIM#616851
Review for gene: SIPA1L3 was set to AMBER
Added comment: A consanguineous German family segregating a homozygous nonsense mutation in two sisters with congenital cataracts (PMID: 25804400). Null Zebrafish, Xenopus and mouse models recapitulate the human cataract phenotype. A case with congenital cataracts as a feature of their condition harboured a de novo balanced chromosomal translocation, 46,XY,t(2;19)(q37.3;q13.1), where breakpoint mapping and sequencing showed a physical disruption of the 5′UTR of SIPA1L3 (PMID: 26231217). In a case with bilateral congenital cataracts a heterozygous missense (D148Y) was identified and in vitro functional assays of the variant resulted in abnormal actin morphology (PMID: 26231217).
Sources: Expert list
Cataract v0.127 SIPA1L3 Bryony Thompson Classified gene: SIPA1L3 as Amber List (moderate evidence)
Cataract v0.127 SIPA1L3 Bryony Thompson Added comment: Comment on list classification: There is growing evidence supporting biallelic inheritance
Cataract v0.127 SIPA1L3 Bryony Thompson Gene: sipa1l3 has been classified as Amber List (Moderate Evidence).
Cataract v0.126 SIPA1L3 Bryony Thompson gene: SIPA1L3 was added
gene: SIPA1L3 was added to Cataract. Sources: Expert list
Mode of inheritance for gene: SIPA1L3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SIPA1L3 were set to 28951961; 27993984; 25804400
Phenotypes for gene: SIPA1L3 were set to Cataract 45 MIM#616851
Review for gene: SIPA1L3 was set to AMBER
Added comment: A consanguineous German family segregating a homozygous nonsense mutation in two sisters with congenital cataracts (PMID: 25804400). Null Zebrafish, Xenopus and mouse models recapitulate the human cataract phenotype. A case with congenital cataracts as a feature of their condition harboured a de novo balanced chromosomal translocation, 46,XY,t(2;19)(q37.3;q13.1), where breakpoint mapping and sequencing showed a physical disruption of the 5′UTR of SIPA1L3 (PMID: 26231217). In a case with bilateral congenital cataracts a heterozygous missense (D148Y) was identified and in vitro functional assays of the variant resulted in abnormal actin morphology (PMID: 26231217).
Sources: Expert list
Cataract v0.125 SH2D1A Bryony Thompson Marked gene: SH2D1A as ready
Cataract v0.125 SH2D1A Bryony Thompson Gene: sh2d1a has been classified as Red List (Low Evidence).
Cataract v0.125 SH2D1A Bryony Thompson Classified gene: SH2D1A as Red List (low evidence)
Cataract v0.125 SH2D1A Bryony Thompson Gene: sh2d1a has been classified as Red List (Low Evidence).
Cataract v0.124 SH2D1A Bryony Thompson reviewed gene: SH2D1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lymphoproliferative syndrome, X-linked, 1 MIM#308240; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cataract v0.124 RET Bryony Thompson Classified gene: RET as Red List (low evidence)
Cataract v0.124 RET Bryony Thompson Gene: ret has been classified as Red List (Low Evidence).
Cataract v0.123 RET Bryony Thompson reviewed gene: RET: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.123 RAG2 Bryony Thompson Marked gene: RAG2 as ready
Cataract v0.123 RAG2 Bryony Thompson Gene: rag2 has been classified as Red List (Low Evidence).
Cataract v0.123 RAG2 Bryony Thompson Classified gene: RAG2 as Red List (low evidence)
Cataract v0.123 RAG2 Bryony Thompson Gene: rag2 has been classified as Red List (Low Evidence).
Cataract v0.122 RAG2 Bryony Thompson reviewed gene: RAG2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined cellular and humoral immune defects with granulomas MIM#233650, Omenn syndrome MIM#603554, Severe combined immunodeficiency, B cell-negative MIM#601457; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.122 POMT2 Bryony Thompson Mode of inheritance for gene: POMT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.121 POMT2 Bryony Thompson Marked gene: POMT2 as ready
Cataract v0.121 POMT2 Bryony Thompson Gene: pomt2 has been classified as Green List (High Evidence).
Cataract v0.121 POMT2 Bryony Thompson reviewed gene: POMT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15894594, 17878207; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 MIM#613150, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 MIM#613156, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 MIM#613158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.121 POMT1 Bryony Thompson Marked gene: POMT1 as ready
Cataract v0.121 POMT1 Bryony Thompson Gene: pomt1 has been classified as Amber List (Moderate Evidence).
Cataract v0.121 POMT1 Bryony Thompson Classified gene: POMT1 as Amber List (moderate evidence)
Cataract v0.121 POMT1 Bryony Thompson Gene: pomt1 has been classified as Amber List (Moderate Evidence).
Cataract v0.120 POMT1 Bryony Thompson reviewed gene: POMT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 17878207, 19299310; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 MIM#236670, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 MIM#613155, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 MIM#609308; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2280 KCNJ11 Elena Savva edited their review of gene: KCNJ11: Added comment: Congenital hyperinsulinism (HI) variants are generally reported in heterozygous patients where they also carry a somatic 2nd hit, or have isodisomy of the paternal allele (focal HI), or in bilallelic patients (diffuse HI). This condition can be dominant (but rarely), where patients with these missense are diazoxide-responsive. Patients with recessively inherited variants are diazoxide-unresponsive (OMIM, PMID:11395395, PMID: 23275527, PMID: 23345197).

Genotype-phenotype correlation:
Permanent neonatal diabetes – GOF (OMIM)
Permanent neonatal diabetes + other features – GOF (OMIM)
Congenital hyperinsulinism – LOF (PMID:18250167).

PTCs - LOF
Missense - Loss and gain of function
LOF – cause reduce channel expression, channel activity and increase current decay (PMID:18250167)
GOF - impair ATP-based sensitivity, more open state channel (OMIM)

Mutations generally occur on the paternal allele (PMID: 23345197).; Changed publications: PMID:18250167, 11395395, 23275527, 23345197
Mendeliome v0.2280 KCNJ11 Elena Savva reviewed gene: KCNJ11: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: {Diabetes mellitus, type 2, susceptibility to} 125853, Diabetes mellitus, transient neonatal, 3 610582, Diabetes, permanent neonatal, with or without neurologic features 606176, Hyperinsulinemic hypoglycemia, familial, 2 601820, Maturity-onset diabetes of the young, type 13 616329 AD; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cataract v0.120 PLCG2 Bryony Thompson Marked gene: PLCG2 as ready
Cataract v0.120 PLCG2 Bryony Thompson Gene: plcg2 has been classified as Red List (Low Evidence).
Cataract v0.120 PLCG2 Bryony Thompson Classified gene: PLCG2 as Red List (low evidence)
Cataract v0.120 PLCG2 Bryony Thompson Gene: plcg2 has been classified as Red List (Low Evidence).
Cataract v0.119 PLCG2 Bryony Thompson reviewed gene: PLCG2: Rating: RED; Mode of pathogenicity: Other; Publications: 23000145; Phenotypes: Autoinflammation, antibody deficiency, and immune dysregulation syndrome MIM#614878; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Optic Atrophy v0.60 DNM1L Crystle Lee gene: DNM1L was added
gene: DNM1L was added to Optic Atrophy. Sources: Expert Review
Mode of inheritance for gene: DNM1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DNM1L were set to 28969390; 30850373; 17460227
Phenotypes for gene: DNM1L were set to Optic atrophy 5 (MIM#610708)
Mode of pathogenicity for gene: DNM1L was set to Other
Review for gene: DNM1L was set to GREEN
Added comment: Reported in patients with isolated OA and as a feature of a multisystem disorder

PMID: 28969390; Gerber 2017: 2 different variants reported in 3 large families with isolated DOA. Functional studies shown to exert dominant-negative effect
PMID: 30850373; Assia 2019: Optic atrophy reported as a feature in a patient with a de novo missense. (reported gene as DLP1)
PMID: 17460227; Waterham 2007; Optic atrophy reported as a feature in 1 patient
Sources: Expert Review
Cataract v0.119 OAT Bryony Thompson Marked gene: OAT as ready
Cataract v0.119 OAT Bryony Thompson Gene: oat has been classified as Green List (High Evidence).
Cataract v0.119 OAT Bryony Thompson Classified gene: OAT as Green List (high evidence)
Cataract v0.119 OAT Bryony Thompson Gene: oat has been classified as Green List (High Evidence).
Cataract v0.118 OAT Bryony Thompson gene: OAT was added
gene: OAT was added to Cataract. Sources: Expert list
Mode of inheritance for gene: OAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OAT were set to 22674428; 11297489
Phenotypes for gene: OAT were set to Gyrate atrophy of choroid and retina with or without ornithinemia MIM#258870
Review for gene: OAT was set to GREEN
Added comment: Onset of cataract in the second/third decade is a common feature of this condition.
Sources: Expert list
Optic Atrophy v0.60 POLG Elena Savva reviewed gene: POLG: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 31613174, 20142534, 30395865; Phenotypes: Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700, Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662, Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459, Progressive external ophthalmoplegia, autosomal dominant 1 157640, Progressive external ophthalmoplegia, autosomal recessive 1 258450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.117 NCF4 Bryony Thompson Marked gene: NCF4 as ready
Cataract v0.117 NCF4 Bryony Thompson Gene: ncf4 has been classified as Red List (Low Evidence).
Cataract v0.117 NCF4 Bryony Thompson Classified gene: NCF4 as Red List (low evidence)
Cataract v0.117 NCF4 Bryony Thompson Gene: ncf4 has been classified as Red List (Low Evidence).
Cataract v0.116 NCF4 Bryony Thompson reviewed gene: NCF4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III MIM#613960; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.116 NCF2 Bryony Thompson Marked gene: NCF2 as ready
Cataract v0.116 NCF2 Bryony Thompson Gene: ncf2 has been classified as Red List (Low Evidence).
Cataract v0.116 NCF2 Bryony Thompson Classified gene: NCF2 as Red List (low evidence)
Cataract v0.116 NCF2 Bryony Thompson Gene: ncf2 has been classified as Red List (Low Evidence).
Cataract v0.115 NCF2 Bryony Thompson reviewed gene: NCF2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Chronic granulomatous disease due to deficiency of NCF-2 MIM#233710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.115 NCF1 Bryony Thompson Classified gene: NCF1 as Red List (low evidence)
Cataract v0.115 NCF1 Bryony Thompson Gene: ncf1 has been classified as Red List (Low Evidence).
Cataract v0.114 NCF1 Bryony Thompson reviewed gene: NCF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Chronic granulomatous disease due to deficiency of NCF-1 MIM#233700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.60 TIMM8A Crystle Lee edited their review of gene: TIMM8A: Added comment: TIMM8A causes Mohr–Tranebjaerg syndrome (also called deafness-dystonia-optic neuronopathy [DDON] syndrome.
Optic atrophy does not appear to be a major or consistent feature

PMID: 31903733; Neighbors 2020: Patient reported did not show optic neuropathy or retinal involvement
PMID: 30634948; Wang 2019: Reported 3 unrelated families, no signs of optic atrophy
PMID: 22736418; Ha 2012: Only 1 of 3 family showed optic atrophy; Changed phenotypes: Mohr-Tranebjaerg syndrome (MIM#304700)
Cataract v0.114 MSMO1 Bryony Thompson Classified gene: MSMO1 as Green List (high evidence)
Cataract v0.114 MSMO1 Bryony Thompson Gene: msmo1 has been classified as Green List (High Evidence).
Optic Atrophy v0.60 TIMM8A Crystle Lee reviewed gene: TIMM8A: Rating: AMBER; Mode of pathogenicity: None; Publications: 31903733, 30634948, 22736418; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cataract v0.113 MSMO1 Bryony Thompson gene: MSMO1 was added
gene: MSMO1 was added to Cataract. Sources: Expert list
Mode of inheritance for gene: MSMO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MSMO1 were set to 21285510; 24144731; 28673550
Phenotypes for gene: MSMO1 were set to Microcephaly, congenital cataract, and psoriasiform dermatitis MIM#616834
Review for gene: MSMO1 was set to GREEN
Added comment: At least 3 probands with biallelic variant and congenital cataract as a prominent feature of the condition.
Sources: Expert list
Cataract v0.112 LRBA Bryony Thompson Classified gene: LRBA as Red List (low evidence)
Cataract v0.112 LRBA Bryony Thompson Gene: lrba has been classified as Red List (Low Evidence).
Cataract v0.111 LRBA Bryony Thompson reviewed gene: LRBA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency, common variable, 8, with autoimmunity MIM#614700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.111 LIG4 Bryony Thompson Classified gene: LIG4 as Red List (low evidence)
Cataract v0.111 LIG4 Bryony Thompson Gene: lig4 has been classified as Red List (Low Evidence).
Cataract v0.110 LIG4 Bryony Thompson reviewed gene: LIG4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: LIG4 syndrome MIM#606593; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.60 C19orf12 Elena Savva gene: C19orf12 was added
gene: C19orf12 was added to Optic Atrophy. Sources: Expert Review
Mode of inheritance for gene: C19orf12 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: C19orf12 were set to PMID: 22584950; 21981780; 23857908
Phenotypes for gene: C19orf12 were set to ?Spastic paraplegia 43, autosomal recessive 61504; Neurodegeneration with brain iron accumulation 4 614298
Review for gene: C19orf12 was set to GREEN
Added comment: PMID: 22584950 - reports three patients (two families). Two sibs from one family (chet missense with inframe deletion) did NOT have optic atrophy, the third patient did (chet frameshift with the same inframe deletion). Patients had NBIA.

PMID: 21981780 - optic atrophy described as a "common finding".
19 families reported, optic atrophy was a feature in all familial cases (4/4), and most simplex cases (12/15)
Patients were reported with both bilallelic and monoallelic genotypes. Patients had NBIA.

PMID: 23857908 - 1 family with optic atrophy and SPG43. Same variant reported in an NBIA family
Sources: Expert Review
Optic Atrophy v0.60 AFG3L2 Crystle Lee changed review comment from: Recurrent missense, R468C, variant associated with OA - reported in 3 families.

PMID: 29181157; Colavito 2017; R468C reported in a patient with isolated OA
PMID: 26539208; Charif 2015: R468C reported in a family with OA and mild ID
PMID: 30252181; Magri 2018: Reported a patient with early-onset optic atrophy with spastic ataxia. Patient harboured de novo R468C and het frameshift in SPG7. Functional analysis of R468C in yeast showed abolished AFG3L2 function.

PMID: 30389403; Mancini 2019: Mouse model harbouring a different missense results in adult-onset ataxia and no vision loss; to: Recurrent missense, R468C, variant associated with OA - reported in 3 families.

PMID: 29181157; Colavito 2017; R468C reported in a patient with isolated OA
PMID: 26539208; Charif 2015: R468C reported in a family with OA and mild ID
PMID: 30252181; Magri 2018: Reported a patient with early-onset optic atrophy with spastic ataxia. Patient harboured de novo R468C and het frameshift in SPG7. Functional analysis of R468C in yeast showed abolished AFG3L2 function.

PMID: 30389403; Mancini 2019: Mouse model harbouring a different missense results in adult-onset ataxia and no vision loss
Optic Atrophy v0.60 AFG3L2 Crystle Lee edited their review of gene: AFG3L2: Changed publications: 29181157, 26539208, 30252181, 30389403
Optic Atrophy v0.60 AFG3L2 Crystle Lee reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29181157, 26539208, 30252181; Phenotypes: Spastic ataxia 5, autosomal recessive (MIM#614487), Spinocerebellar ataxia 28 (MIM#610246); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Optic Atrophy v0.60 FDXR Elena Savva reviewed gene: FDXR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30250212, 28965846; Phenotypes: Auditory neuropathy and optic atrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.60 PBX1 Elena Savva changed review comment from: PMID: 29036646 - 8 patients reported with both missense and PTCs. No indication in any patient of an eye-related phenotype; to: PMID: 29036646 - 8 patients reported with both missense and PTCs. No indication in any patient of an eye-related phenotype

Looked for other papers/databases, no indication of this gene causing an eye phenotype. Some papers discuss developmental biology (PMID: 19797217) in mice, but no patients as of yet reported.
Optic Atrophy v0.60 PBX1 Elena Savva reviewed gene: PBX1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29036646; Phenotypes: Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Optic Atrophy v0.60 SLC52A2 Elena Savva gene: SLC52A2 was added
gene: SLC52A2 was added to Optic Atrophy. Sources: Expert Review
Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC52A2 were set to PMID: 22864630; 29961509; 30377535; 29287867
Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2
Review for gene: SLC52A2 was set to GREEN
Added comment: PMID: 22864630 - 1 child with optic atrophy. She has biallelic chet missense, functional studies confirm a loss of function consequence.

PMID: 23243084 - reported by PanelApp UK but no patient observed with optic atrophy

PMID: 29961509 - 1 family (two siblings) with optic atrophy and a homozygous missense.

PMID: 30377535 - Described optic atrophy as a "typical" common feature of riboflavin transporter deficiency

PMID: 29287867 - A Iranian family (3 sibs) with a homozygous missense and optic atrophy
Sources: Expert Review
Optic Atrophy v0.60 MFF Elena Savva gene: MFF was added
gene: MFF was added to Optic Atrophy. Sources: Expert Review
Mode of inheritance for gene: MFF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MFF were set to PMID: 26783368; 22499341; 30581454
Phenotypes for gene: MFF were set to Encephalopathy due to defective mitochondrial and peroxisomal fission 2
Penetrance for gene: MFF were set to unknown
Review for gene: MFF was set to GREEN
Added comment: PMID: 26783368 - 2 fams with bilallelic PTCs with optic atrophy

PMID: 22499341 - 1 fam with bilallelic PTCs with optic atrophy

PMID: 30581454 - 1 patient with bilallelic PTCs with optic atrophy
Sources: Expert Review
Optic Atrophy v0.60 PLAA Crystle Lee reviewed gene: PLAA: Rating: AMBER; Mode of pathogenicity: None; Publications: 28413018, 28007986; Phenotypes: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies (MIM#617527); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.60 RTN4IP1 Elena Savva gene: RTN4IP1 was added
gene: RTN4IP1 was added to Optic Atrophy. Sources: Expert Review
Mode of inheritance for gene: RTN4IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RTN4IP1 were set to PMID: 26593267; 31077085
Phenotypes for gene: RTN4IP1 were set to Optic atrophy 10 with or without ataxia, mental retardation, and seizures
Penetrance for gene: RTN4IP1 were set to unknown
Review for gene: RTN4IP1 was set to GREEN
Added comment: PMID: 26593267 - 4 families with hom missense or chet w/ PTCs and optic atrophy
PMID: 31077085 - 1 fam (2 chet sibs) w/ missense and PTC and optic atrophy
Sources: Expert Review
Mendeliome v0.2280 SLC18A2 Zornitza Stark Marked gene: SLC18A2 as ready
Mendeliome v0.2280 SLC18A2 Zornitza Stark Gene: slc18a2 has been classified as Green List (High Evidence).
Mendeliome v0.2280 SLC18A2 Zornitza Stark Classified gene: SLC18A2 as Green List (high evidence)
Mendeliome v0.2280 SLC18A2 Zornitza Stark Gene: slc18a2 has been classified as Green List (High Evidence).
Mendeliome v0.2279 SLC18A2 Zornitza Stark gene: SLC18A2 was added
gene: SLC18A2 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: SLC18A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC18A2 were set to 23363473; 31240161; 26497564
Phenotypes for gene: SLC18A2 were set to Parkinsonism-dystonia, infantile, 2, MIM# 618049
Review for gene: SLC18A2 was set to GREEN
Added comment: At least three unrelated families reported, potential treatment implications
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.2524 SLC18A2 Zornitza Stark Marked gene: SLC18A2 as ready
Intellectual disability syndromic and non-syndromic v0.2524 SLC18A2 Zornitza Stark Gene: slc18a2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2524 SLC18A2 Zornitza Stark Classified gene: SLC18A2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2524 SLC18A2 Zornitza Stark Gene: slc18a2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2523 SLC18A2 Zornitza Stark gene: SLC18A2 was added
gene: SLC18A2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review
Mode of inheritance for gene: SLC18A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC18A2 were set to 23363473; 31240161; 26497564
Phenotypes for gene: SLC18A2 were set to Parkinsonism-dystonia, infantile, 2, MIM# 618049
Review for gene: SLC18A2 was set to GREEN
Added comment: At least three unrelated families reported, potential treatment implications.
Sources: Expert Review
Mendeliome v0.2278 RNU4ATAC Zornitza Stark Marked gene: RNU4ATAC as ready
Mendeliome v0.2278 RNU4ATAC Zornitza Stark Added comment: Comment when marking as ready: Note gene is not protein coding.
Mendeliome v0.2278 RNU4ATAC Zornitza Stark Gene: rnu4atac has been classified as Green List (High Evidence).
Mendeliome v0.2278 RNU4ATAC Zornitza Stark Phenotypes for gene: RNU4ATAC were changed from to Microcephalic osteodysplastic primordial dwarfism, type I (MIM# 210710); Roifman syndrome (MIM# 616651)
Mendeliome v0.2277 RNU4ATAC Zornitza Stark Publications for gene: RNU4ATAC were set to
Mendeliome v0.2276 RNU4ATAC Zornitza Stark Mode of inheritance for gene: RNU4ATAC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.60 SLC24A1 Zornitza Stark Marked gene: SLC24A1 as ready
Optic Atrophy v0.60 SLC24A1 Zornitza Stark Added comment: Comment when marking as ready: Agree, I can only find association with retinal disease, not optic atrophy.
Optic Atrophy v0.60 SLC24A1 Zornitza Stark Gene: slc24a1 has been classified as Red List (Low Evidence).
Optic Atrophy v0.60 SLC24A1 Zornitza Stark Phenotypes for gene: SLC24A1 were changed from to Night blindness, congenital stationary (complete), 1D, autosomal recessive; 613830
Optic Atrophy v0.59 SLC24A1 Zornitza Stark Publications for gene: SLC24A1 were set to
Optic Atrophy v0.58 SLC24A1 Zornitza Stark Mode of inheritance for gene: SLC24A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.57 SLC24A1 Zornitza Stark Classified gene: SLC24A1 as Red List (low evidence)
Optic Atrophy v0.57 SLC24A1 Zornitza Stark Gene: slc24a1 has been classified as Red List (Low Evidence).
Mendeliome v0.2275 RNU4ATAC Ain Roesley reviewed gene: RNU4ATAC: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23794361, 26522830, 30455926; Phenotypes: Microcephalic osteodysplastic primordial dwarfism, type I (MIM# 210710), Roifman syndrome (MIM# 616651); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.56 SLC24A1 Belinda Chong reviewed gene: SLC24A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26822852, 20850105; Phenotypes: Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2275 IFT172 Zornitza Stark Marked gene: IFT172 as ready
Mendeliome v0.2275 IFT172 Zornitza Stark Added comment: Comment when marking as ready: Established ciliopathy gene.
Mendeliome v0.2275 IFT172 Zornitza Stark Gene: ift172 has been classified as Green List (High Evidence).
Mendeliome v0.2275 IFT172 Zornitza Stark Phenotypes for gene: IFT172 were changed from to Retinitis pigmentosa 71 616394; Short-rib thoracic dysplasia 10 with or without polydactyly - 615630; Bardet-Biedl syndrome
Mendeliome v0.2274 IFT172 Zornitza Stark Publications for gene: IFT172 were set to
Mendeliome v0.2273 IFT172 Zornitza Stark Mode of inheritance for gene: IFT172 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2522 KMT2E Zornitza Stark reviewed gene: KMT2E: Rating: GREEN; Mode of pathogenicity: None; Publications: 31079897; Phenotypes: O'Donnell-Luria-Rodan syndrome, MIM# 618512, Intellectual disability, Autism, Seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.655 KMT2E Zornitza Stark Phenotypes for gene: KMT2E were changed from Intellectual disability; Autism; Seizures to O'Donnell-Luria-Rodan syndrome, MIM# 618512; Intellectual disability; Autism; Seizures
Genetic Epilepsy v0.654 KMT2E Zornitza Stark edited their review of gene: KMT2E: Added comment: Epilepsy was present in about one-fifth of individuals with truncating variants and was responsive to treatment with anti-epileptic medications in almost all. The four individuals with missense variants presented with the most severe developmental delays. Epilepsy was present in all individuals with missense variants, often manifesting as treatment-resistant infantile epileptic encephalopathy. Haploinsufficiency versus gain-of-function or dominant-negative effects specific to these missense variants in KMT2E postulated to explain this divergence in phenotype.; Changed phenotypes: O'Donnell-Luria-Rodan syndrome, MIM# 618512, Intellectual disability, Autism, Seizures
Mendeliome v0.2272 KMT2E Zornitza Stark reviewed gene: KMT2E: Rating: GREEN; Mode of pathogenicity: None; Publications: 31079897; Phenotypes: O'Donnell-Luria-Rodan syndrome, MIM# 618512; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2272 KMT2E Zornitza Stark Marked gene: KMT2E as ready
Mendeliome v0.2272 KMT2E Zornitza Stark Gene: kmt2e has been classified as Green List (High Evidence).
Mendeliome v0.2272 KMT2E Zornitza Stark Publications for gene: KMT2E were set to
Mendeliome v0.2271 KMT2E Zornitza Stark Phenotypes for gene: KMT2E were changed from to O'Donnell-Luria-Rodan syndrome, MIM# 618512
Mendeliome v0.2270 KMT2E Zornitza Stark Mode of inheritance for gene: KMT2E was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2269 MACF1 Zornitza Stark Marked gene: MACF1 as ready
Mendeliome v0.2269 MACF1 Zornitza Stark Gene: macf1 has been classified as Green List (High Evidence).
Mendeliome v0.2269 MAP1B Zornitza Stark Marked gene: MAP1B as ready
Mendeliome v0.2269 MAP1B Zornitza Stark Gene: map1b has been classified as Green List (High Evidence).
Mendeliome v0.2269 MAP1B Zornitza Stark Phenotypes for gene: MAP1B were changed from to Intellectual disability; seizures; PVNH; dysmorphic features
Mendeliome v0.2268 MAP1B Zornitza Stark Publications for gene: MAP1B were set to
Mendeliome v0.2267 MAP1B Zornitza Stark Mode of inheritance for gene: MAP1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2266 MAP3K20 Zornitza Stark Marked gene: MAP3K20 as ready
Mendeliome v0.2266 MAP3K20 Zornitza Stark Gene: map3k20 has been classified as Green List (High Evidence).
Mendeliome v0.2266 MAP3K7 Zornitza Stark Marked gene: MAP3K7 as ready
Mendeliome v0.2266 MAP3K7 Zornitza Stark Gene: map3k7 has been classified as Green List (High Evidence).
Mendeliome v0.2266 MAP3K7 Zornitza Stark Phenotypes for gene: MAP3K7 were changed from to Cardiospondylocarpofacial syndrome 157800 AD; Frontometaphyseal dysplasia 2 617137 AD
Mendeliome v0.2265 MAP3K7 Zornitza Stark Publications for gene: MAP3K7 were set to
Mendeliome v0.2264 MAP3K7 Zornitza Stark Mode of pathogenicity for gene: MAP3K7 was changed from to Other
Mendeliome v0.2263 MAP3K7 Zornitza Stark Mode of inheritance for gene: MAP3K7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2262 MARS2 Zornitza Stark Marked gene: MARS2 as ready
Mendeliome v0.2262 MARS2 Zornitza Stark Gene: mars2 has been classified as Green List (High Evidence).
Mendeliome v0.2262 MARS2 Zornitza Stark Phenotypes for gene: MARS2 were changed from to Combined oxidative phosphorylation deficiency 25, OMIM #616430; Spastic ataxia 3, autosomal recessive, OMIM #611390
Mendeliome v0.2261 MARS2 Zornitza Stark Publications for gene: MARS2 were set to
Mendeliome v0.2260 MARS2 Zornitza Stark Mode of inheritance for gene: MARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2259 MARS2 Zornitza Stark edited their review of gene: MARS2: Changed rating: GREEN; Changed publications: 25754315, 16672289
Mendeliome v0.2259 MARS2 Zornitza Stark changed review comment from: 1 family with 2 sibs with combined oxidative phosphorylation deficiency-25 (with ID) with compound heterozygous mutations in the MARS2 gene. Patient fibroblasts showed decreased activities of mitochondrial complexes I and IV, consistent with a mitochondrial translation defect. Immunoblot analysis showed reduced MARS2 protein levels as well as reduced levels of selected subunits of complexes I and IV.; to: 1 family with 2 sibs with combined oxidative phosphorylation deficiency-25 (with ID) with compound heterozygous mutations in the MARS2 gene. Patient fibroblasts showed decreased activities of mitochondrial complexes I and IV, consistent with a mitochondrial translation defect. Immunoblot analysis showed reduced MARS2 protein levels as well as reduced levels of selected subunits of complexes I and IV. Spastic ataxia association: note complex chromosomal rearrangements rather than SNVs reported in group of 54 French Canadians.
Mendeliome v0.2259 MECOM Zornitza Stark Marked gene: MECOM as ready
Mendeliome v0.2259 MECOM Zornitza Stark Gene: mecom has been classified as Green List (High Evidence).
Mendeliome v0.2259 MECOM Zornitza Stark Phenotypes for gene: MECOM were changed from to Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, MIM#616738
Mendeliome v0.2258 MECOM Zornitza Stark Publications for gene: MECOM were set to
Mendeliome v0.2257 MECOM Zornitza Stark Mode of inheritance for gene: MECOM was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2256 MED17 Zornitza Stark Marked gene: MED17 as ready
Mendeliome v0.2256 MED17 Zornitza Stark Gene: med17 has been classified as Green List (High Evidence).
Mendeliome v0.2256 MED17 Zornitza Stark Phenotypes for gene: MED17 were changed from to Microcephaly, postnatal progressive, with seizures and brain atrophy, MIM#613668
Mendeliome v0.2255 MED17 Zornitza Stark Publications for gene: MED17 were set to
Mendeliome v0.2254 MED17 Zornitza Stark Mode of inheritance for gene: MED17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2253 MTHFS Zornitza Stark Marked gene: MTHFS as ready
Mendeliome v0.2253 MTHFS Zornitza Stark Gene: mthfs has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.32 NEBL Zornitza Stark Marked gene: NEBL as ready
Dilated Cardiomyopathy v0.32 NEBL Zornitza Stark Gene: nebl has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.32 NEBL Zornitza Stark Classified gene: NEBL as Green List (high evidence)
Dilated Cardiomyopathy v0.32 NEBL Zornitza Stark Gene: nebl has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.31 NEBL Zornitza Stark gene: NEBL was added
gene: NEBL was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: NEBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NEBL were set to 27186169
Phenotypes for gene: NEBL were set to Hypertrophic cardiomyopathy; dilated cardiomyopathy
Review for gene: NEBL was set to GREEN
Added comment: 7 patients from 6 unrelated families described with missense variants in this gene; some with HOCM, some with DCM.
Sources: Literature
Hypertrophic cardiomyopathy v0.20 NEBL Zornitza Stark Marked gene: NEBL as ready
Hypertrophic cardiomyopathy v0.20 NEBL Zornitza Stark Gene: nebl has been classified as Green List (High Evidence).
Hypertrophic cardiomyopathy v0.20 NEBL Zornitza Stark Classified gene: NEBL as Green List (high evidence)
Hypertrophic cardiomyopathy v0.20 NEBL Zornitza Stark Gene: nebl has been classified as Green List (High Evidence).
Hypertrophic cardiomyopathy v0.19 NEBL Zornitza Stark gene: NEBL was added
gene: NEBL was added to Hypertrophic cardiomyopathy_HCM. Sources: Literature
Mode of inheritance for gene: NEBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NEBL were set to 27186169
Phenotypes for gene: NEBL were set to Hypertrophic cardiomyopathy; dilated cardiomyopathy
Review for gene: NEBL was set to GREEN
Added comment: 7 individuals from 6 unrelated families described with missense variants in this gene; some with HOCM, some with DCM.
Sources: Literature
Mendeliome v0.2253 NEBL Zornitza Stark Marked gene: NEBL as ready
Mendeliome v0.2253 NEBL Zornitza Stark Gene: nebl has been classified as Green List (High Evidence).
Mendeliome v0.2253 NEBL Zornitza Stark Phenotypes for gene: NEBL were changed from to Hypertrophic cardiomyopathy; dilated cardiomyopathy
Mendeliome v0.2252 NEBL Zornitza Stark Publications for gene: NEBL were set to
Mendeliome v0.2251 NEBL Zornitza Stark Mode of inheritance for gene: NEBL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2250 NPHP3 Zornitza Stark Marked gene: NPHP3 as ready
Mendeliome v0.2250 NPHP3 Zornitza Stark Gene: nphp3 has been classified as Green List (High Evidence).
Mendeliome v0.2250 NPHP3 Zornitza Stark Phenotypes for gene: NPHP3 were changed from to Meckel syndrome 7, MIM# 267010; Nephronophthisis 3, MIM# 604387; Renal-hepatic-pancreatic dysplasia 1, MIM# 208540
Mendeliome v0.2249 NPHP3 Zornitza Stark Mode of inheritance for gene: NPHP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2248 NPHP3 Zornitza Stark reviewed gene: NPHP3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Meckel syndrome 7, MIM# 267010, Nephronophthisis 3, MIM# 604387, Renal-hepatic-pancreatic dysplasia 1, MIM# 208540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2248 NR2E1 Zornitza Stark Marked gene: NR2E1 as ready
Mendeliome v0.2248 NR2E1 Zornitza Stark Gene: nr2e1 has been classified as Red List (Low Evidence).
Mendeliome v0.2248 NR2E1 Zornitza Stark Classified gene: NR2E1 as Red List (low evidence)
Mendeliome v0.2248 NR2E1 Zornitza Stark Gene: nr2e1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2522 NRROS Zornitza Stark Marked gene: NRROS as ready
Intellectual disability syndromic and non-syndromic v0.2522 NRROS Zornitza Stark Gene: nrros has been classified as Green List (High Evidence).
Regression v0.105 NRROS Zornitza Stark Marked gene: NRROS as ready
Regression v0.105 NRROS Zornitza Stark Gene: nrros has been classified as Green List (High Evidence).
Mendeliome v0.2247 NRROS Zornitza Stark Marked gene: NRROS as ready
Mendeliome v0.2247 NRROS Zornitza Stark Gene: nrros has been classified as Green List (High Evidence).
Mendeliome v0.2247 NUP214 Zornitza Stark Marked gene: NUP214 as ready
Mendeliome v0.2247 NUP214 Zornitza Stark Gene: nup214 has been classified as Green List (High Evidence).
Mendeliome v0.2247 NUP214 Zornitza Stark Phenotypes for gene: NUP214 were changed from epileptic encephalopathy; developmental regression; microcephaly to Encephalopathy, acute, infection-induced, susceptibility to, 9, MIM# 618426; epileptic encephalopathy; developmental regression; microcephaly
Mendeliome v0.2246 NXN Zornitza Stark Marked gene: NXN as ready
Mendeliome v0.2246 NXN Zornitza Stark Gene: nxn has been classified as Green List (High Evidence).
Mendeliome v0.2246 PAX1 Zornitza Stark changed review comment from: Note recent report of 6 individuals from three unrelated families with prominent immunological phenotype.; to: Note additional recent report of 6 individuals from three unrelated families with prominent immunological phenotype.
Mendeliome v0.2246 PAX1 Zornitza Stark reviewed gene: PAX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32111619; Phenotypes: Otofaciocervical syndrome 2, MIM#615560, Syndromic SCID; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2246 PAX1 Zornitza Stark Marked gene: PAX1 as ready
Mendeliome v0.2246 PAX1 Zornitza Stark Gene: pax1 has been classified as Green List (High Evidence).
Mendeliome v0.2246 PAX1 Zornitza Stark Phenotypes for gene: PAX1 were changed from to Otofaciocervical syndrome 2, MIM#615560; Syndromic SCID
Mendeliome v0.2245 PAX1 Zornitza Stark Publications for gene: PAX1 were set to 29681087; 28657137; 23851939
Mendeliome v0.2244 PAX1 Zornitza Stark Publications for gene: PAX1 were set to
Mendeliome v0.2243 PAX1 Zornitza Stark Mode of inheritance for gene: PAX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2242 PDE8B Zornitza Stark Marked gene: PDE8B as ready
Mendeliome v0.2242 PDE8B Zornitza Stark Gene: pde8b has been classified as Green List (High Evidence).
Mendeliome v0.2242 PDE8B Zornitza Stark Phenotypes for gene: PDE8B were changed from to Striatal degeneration, autosomal dominant, MIM#609161
Mendeliome v0.2241 PDE8B Zornitza Stark Publications for gene: PDE8B were set to
Mendeliome v0.2240 PDE8B Zornitza Stark Mode of inheritance for gene: PDE8B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2239 ANLN Zornitza Stark Marked gene: ANLN as ready
Mendeliome v0.2239 ANLN Zornitza Stark Gene: anln has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2239 ANLN Zornitza Stark Phenotypes for gene: ANLN were changed from to Focal segmental glomerulosclerosis 8, OMIM #616032
Mendeliome v0.2238 ANLN Zornitza Stark Publications for gene: ANLN were set to
Mendeliome v0.2237 PIGG Zornitza Stark Marked gene: PIGG as ready
Mendeliome v0.2237 PIGG Zornitza Stark Gene: pigg has been classified as Green List (High Evidence).
Mendeliome v0.2237 PIGG Zornitza Stark Phenotypes for gene: PIGG were changed from to Mental retardation, autosomal recessive 53, MIM#616917
Mendeliome v0.2236 PIGG Zornitza Stark Publications for gene: PIGG were set to
Mendeliome v0.2235 PIGG Zornitza Stark Mode of inheritance for gene: PIGG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2234 PIGU Zornitza Stark Marked gene: PIGU as ready
Mendeliome v0.2234 PIGU Zornitza Stark Gene: pigu has been classified as Green List (High Evidence).
Mendeliome v0.2234 PIGU Zornitza Stark Phenotypes for gene: PIGU were changed from to Glycosylphosphatidylinositol biosynthesis defect 21; OMIM #618590
Mendeliome v0.2233 PIGU Zornitza Stark Publications for gene: PIGU were set to
Mendeliome v0.2232 PIGU Zornitza Stark Mode of inheritance for gene: PIGU was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2231 PUS3 Zornitza Stark Marked gene: PUS3 as ready
Mendeliome v0.2231 PUS3 Zornitza Stark Gene: pus3 has been classified as Green List (High Evidence).
Mendeliome v0.2231 PUS3 Zornitza Stark Phenotypes for gene: PUS3 were changed from to Mental retardation, autosomal recessive 55, MIM# 617051
Mendeliome v0.2230 PUS3 Zornitza Stark Publications for gene: PUS3 were set to
Mendeliome v0.2229 PUS3 Zornitza Stark Mode of inheritance for gene: PUS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2522 RUBCN Zornitza Stark Mode of inheritance for gene: RUBCN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2521 RUBCN Zornitza Stark edited their review of gene: RUBCN: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2228 RUBCN Zornitza Stark Marked gene: RUBCN as ready
Mendeliome v0.2228 RUBCN Zornitza Stark Gene: rubcn has been classified as Green List (High Evidence).
Mendeliome v0.2228 RUBCN Zornitza Stark Phenotypes for gene: RUBCN were changed from to Spinocerebellar ataxia, autosomal recessive 15, MIM#615705
Mendeliome v0.2227 RUBCN Zornitza Stark Publications for gene: RUBCN were set to
Autism v0.83 SHANK2 Zornitza Stark Marked gene: SHANK2 as ready
Autism v0.83 SHANK2 Zornitza Stark Gene: shank2 has been classified as Green List (High Evidence).
Mendeliome v0.2226 RUBCN Zornitza Stark Mode of inheritance for gene: RUBCN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Autism v0.83 SHANK2 Zornitza Stark Phenotypes for gene: SHANK2 were changed from to {Autism susceptibility 17}, MIM#613436; Autism spectrum disorder with or without intellectual disability
Autism v0.82 SHANK2 Zornitza Stark Publications for gene: SHANK2 were set to
Autism v0.81 SHANK2 Zornitza Stark Mode of inheritance for gene: SHANK2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.80 SHANK2 Zornitza Stark reviewed gene: SHANK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30072871, 30911184, 20473310; Phenotypes: {Autism susceptibility 17}, Autism spectrum disorder with or without intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2225 SHANK2 Zornitza Stark Marked gene: SHANK2 as ready
Mendeliome v0.2225 SHANK2 Zornitza Stark Added comment: Comment when marking as ready: Reports of CNVs, LoF variants, and missense variants in this gene, generally ascertained in autism cohorts. Some de novo and others inherited from parents with a range of neuropsychiatric phenotypes.
Mendeliome v0.2225 SHANK2 Zornitza Stark Gene: shank2 has been classified as Green List (High Evidence).
Mendeliome v0.2225 SHANK2 Zornitza Stark Phenotypes for gene: SHANK2 were changed from to {Autism susceptibility 17}; Autism spectrum disorder with or without intellectual disability
Mendeliome v0.2224 SHANK2 Zornitza Stark Publications for gene: SHANK2 were set to
Mendeliome v0.2223 SHANK2 Zornitza Stark Mode of inheritance for gene: SHANK2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2222 SLC26A4 Zornitza Stark Marked gene: SLC26A4 as ready
Mendeliome v0.2222 SLC26A4 Zornitza Stark Gene: slc26a4 has been classified as Green List (High Evidence).
Mendeliome v0.2222 SLC26A4 Zornitza Stark Phenotypes for gene: SLC26A4 were changed from to Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 600791; Pendred syndrome 274600
Mendeliome v0.2221 SLC26A4 Zornitza Stark Publications for gene: SLC26A4 were set to
Mendeliome v0.2220 SLC26A4 Zornitza Stark Mode of inheritance for gene: SLC26A4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2219 SMPD4 Zornitza Stark Marked gene: SMPD4 as ready
Mendeliome v0.2219 SMPD4 Zornitza Stark Gene: smpd4 has been classified as Green List (High Evidence).
Mendeliome v0.2219 SMPD4 Zornitza Stark Phenotypes for gene: SMPD4 were changed from to Severe neurodevelopmental delay, microcephaly, arthrogryposis
Mendeliome v0.2218 SMPD4 Zornitza Stark Publications for gene: SMPD4 were set to
Mendeliome v0.2217 SMPD4 Zornitza Stark Mode of inheritance for gene: SMPD4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2216 SOX11 Zornitza Stark Marked gene: SOX11 as ready
Mendeliome v0.2216 SOX11 Zornitza Stark Gene: sox11 has been classified as Green List (High Evidence).
Mendeliome v0.2216 SOX11 Zornitza Stark Phenotypes for gene: SOX11 were changed from to Coffin-Siris syndrome 9, MIM# 615866; Congenital abnormalities of the kidneys and urinary tract
Mendeliome v0.2215 SOX11 Zornitza Stark Publications for gene: SOX11 were set to
Mendeliome v0.2214 SOX11 Zornitza Stark Mode of inheritance for gene: SOX11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2213 SOX11 Zornitza Stark changed review comment from: Heterozygous variant in a patient with Coffin-Siris like syndrome and small kidney; but also rare variants identified in a non-syndromic CAKUT cohort with some functional data.
Sources: Expert list; to: Coffin-Siris syndrome: two individuals with de novo mono-allelic missense variants in this gene, mouse model.
CAKUT: Heterozygous variant in a patient with Coffin-Siris like syndrome and small kidney; but also rare variants identified in a non-syndromic CAKUT cohort with some functional data.
Sources: Expert list
Mendeliome v0.2213 SOX11 Zornitza Stark edited their review of gene: SOX11: Changed rating: GREEN; Changed phenotypes: Coffin-Siris syndrome 9, MIM# 615866, Congenital abnormalities of the kidneys and urinary tract
Mendeliome v0.2213 ADAM22 Zornitza Stark Marked gene: ADAM22 as ready
Mendeliome v0.2213 ADAM22 Zornitza Stark Gene: adam22 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2213 ADAM22 Zornitza Stark Classified gene: ADAM22 as Amber List (moderate evidence)
Mendeliome v0.2213 ADAM22 Zornitza Stark Gene: adam22 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2212 NDUFA12 Zornitza Stark Marked gene: NDUFA12 as ready
Mendeliome v0.2212 NDUFA12 Zornitza Stark Gene: ndufa12 has been classified as Red List (Low Evidence).
Mendeliome v0.2212 HOXB6 Zornitza Stark Classified gene: HOXB6 as Amber List (moderate evidence)
Mendeliome v0.2212 HOXB6 Zornitza Stark Gene: hoxb6 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.360 UQCRB Zornitza Stark Marked gene: UQCRB as ready
Mitochondrial disease v0.360 UQCRB Zornitza Stark Gene: uqcrb has been classified as Green List (High Evidence).
Mitochondrial disease v0.360 UQCRB Zornitza Stark Phenotypes for gene: UQCRB were changed from to Mitochondrial complex III deficiency, nuclear type 3, MIM# 615158
Mitochondrial disease v0.359 UQCRB Zornitza Stark Publications for gene: UQCRB were set to
Mitochondrial disease v0.358 UQCRB Zornitza Stark Mode of inheritance for gene: UQCRB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.357 UQCRB Zornitza Stark edited their review of gene: UQCRB: Added comment: Three families, two had the same variant. Functional data.; Changed publications: 23281071, 28275242, 12709789, 25446085, 23454382
Mitochondrial disease v0.357 UQCRB Zornitza Stark reviewed gene: UQCRB: Rating: GREEN; Mode of pathogenicity: None; Publications: 23281071, 28275242, 12709789; Phenotypes: Mitochondrial complex III deficiency, nuclear type 3, MIM# 615158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.357 TRAK1 Zornitza Stark Marked gene: TRAK1 as ready
Mitochondrial disease v0.357 TRAK1 Zornitza Stark Gene: trak1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.357 TRAK1 Zornitza Stark Classified gene: TRAK1 as Green List (high evidence)
Mitochondrial disease v0.357 TRAK1 Zornitza Stark Gene: trak1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.356 TRAK1 Zornitza Stark gene: TRAK1 was added
gene: TRAK1 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: TRAK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAK1 were set to 28940097; 28364549; 29846532; 28924745
Phenotypes for gene: TRAK1 were set to Epileptic encephalopathy, early infantile, 68, MIM# 618201
Review for gene: TRAK1 was set to GREEN
Added comment: Six unrelated families reported with EE/ID phenotype. PMID 28924745 provides evidence that TRAK1 is a regulator of mitochondrial fusion.
Sources: Expert list
Mitochondrial disease v0.355 SDHB Zornitza Stark changed review comment from: Four unrelated families reported. Note in one family, one sibling was asymptomatic and most of her investigations were normal (borderline abnormality of thalami on MRI brain). Although the variant was postulated to be hypomorphic, this does raise the question of whether it truly segregated with disease.; to: Four unrelated families reported. Note in one family (PMID: 26925370), one sibling was asymptomatic and most of her investigations were normal (borderline abnormality of thalami on MRI brain). Although the variant was postulated to be hypomorphic, this does raise the question of whether it truly segregated with disease.
Mitochondrial disease v0.355 SDHB Zornitza Stark Publications for gene: SDHB were set to 22972948; 26925370
Mitochondrial disease v0.354 SDHB Zornitza Stark Classified gene: SDHB as Green List (high evidence)
Mitochondrial disease v0.354 SDHB Zornitza Stark Gene: sdhb has been classified as Green List (High Evidence).
Mitochondrial disease v0.353 SDHB Zornitza Stark edited their review of gene: SDHB: Changed rating: GREEN
Mitochondrial disease v0.353 SDHB Zornitza Stark changed review comment from: Two unrelated families reported. Note in second family, one sibling was asymptomatic and most of her investigations were normal (borderline abnormality of thalami on MRI brain). Although the variant was postulated to be hypomorphic, this does raise the question of whether it truly segregated with disease.; to: Four unrelated families reported. Note in one family, one sibling was asymptomatic and most of her investigations were normal (borderline abnormality of thalami on MRI brain). Although the variant was postulated to be hypomorphic, this does raise the question of whether it truly segregated with disease.
Mitochondrial disease v0.353 SDHB Zornitza Stark edited their review of gene: SDHB: Changed publications: 22972948, 26925370, 27604842
Mendeliome v0.2211 QRSL1 Zornitza Stark Marked gene: QRSL1 as ready
Mendeliome v0.2211 QRSL1 Zornitza Stark Gene: qrsl1 has been classified as Green List (High Evidence).
Mendeliome v0.2211 QRSL1 Zornitza Stark Phenotypes for gene: QRSL1 were changed from to Combined oxidative phosphorylation deficiency 40
Mendeliome v0.2210 QRSL1 Zornitza Stark Publications for gene: QRSL1 were set to
Mendeliome v0.2209 QRSL1 Zornitza Stark Mode of inheritance for gene: QRSL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2208 QRSL1 Zornitza Stark reviewed gene: QRSL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26741492, 29440775, 30283131, 30642647; Phenotypes: Combined oxidative phosphorylation deficiency 40; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.353 QRSL1 Zornitza Stark Marked gene: QRSL1 as ready
Mitochondrial disease v0.353 QRSL1 Zornitza Stark Gene: qrsl1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.353 QRSL1 Zornitza Stark Phenotypes for gene: QRSL1 were changed from to Combined oxidative phosphorylation deficiency 40
Mitochondrial disease v0.352 QRSL1 Zornitza Stark Publications for gene: QRSL1 were set to
Mitochondrial disease v0.351 QRSL1 Zornitza Stark Mode of inheritance for gene: QRSL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.350 QRSL1 Zornitza Stark reviewed gene: QRSL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26741492, 29440775, 30283131, 30642647; Phenotypes: Combined oxidative phosphorylation deficiency 40; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.350 PPCS Zornitza Stark Marked gene: PPCS as ready
Mitochondrial disease v0.350 PPCS Zornitza Stark Gene: ppcs has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.350 PPCS Zornitza Stark Classified gene: PPCS as Amber List (moderate evidence)
Mitochondrial disease v0.350 PPCS Zornitza Stark Gene: ppcs has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2208 PPCS Zornitza Stark Marked gene: PPCS as ready
Mendeliome v0.2208 PPCS Zornitza Stark Gene: ppcs has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2208 PPCS Zornitza Stark Phenotypes for gene: PPCS were changed from to Cardiomyopathy, dilated, 2C, MIM# 618189
Mendeliome v0.2207 PPCS Zornitza Stark Publications for gene: PPCS were set to
Rhabdomyolysis and Metabolic Myopathy v0.14 ETFB Bryony Thompson Classified gene: ETFB as Amber List (moderate evidence)
Rhabdomyolysis and Metabolic Myopathy v0.14 ETFB Bryony Thompson Gene: etfb has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2206 PPCS Zornitza Stark Mode of inheritance for gene: PPCS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2205 PPCS Zornitza Stark Classified gene: PPCS as Amber List (moderate evidence)
Mendeliome v0.2205 PPCS Zornitza Stark Gene: ppcs has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.30 PPCS Zornitza Stark changed review comment from: Five individuals from two unrelated families reported with missense variants. Functional studies in yeast to demonstrate impact of the variants on protein but not aimed at establishing gene-disease causation.
Sources: Expert list; to: Five individuals from two unrelated families reported with missense variants. Functional studies in yeast to demonstrate impact of the variants on protein; cardiac dysfunction in Drosophila model.
Sources: Expert list
Rhabdomyolysis and Metabolic Myopathy v0.13 ACADM Bryony Thompson Classified gene: ACADM as Green List (high evidence)
Rhabdomyolysis and Metabolic Myopathy v0.13 ACADM Bryony Thompson Gene: acadm has been classified as Green List (High Evidence).
Rhabdomyolysis and Metabolic Myopathy v0.12 ACADM Bryony Thompson changed review comment from: Rhabdomyolysis can be a prominent feature of cases with MCAD deficiency.; to: Rhabdomyolysis can be a prominent feature of cases with MCAD deficiency. >3 cases reported.
Rhabdomyolysis and Metabolic Myopathy v0.12 ACADM Bryony Thompson edited their review of gene: ACADM: Added comment: Rhabdomyolysis can be a prominent feature of cases with MCAD deficiency.; Changed rating: GREEN; Changed publications: 7876853, 12897989, 20049534
Mendeliome v0.2204 PPCS Zornitza Stark changed review comment from: Five individuals from two unrelated families reported with missense variants. Functional studies in yeast to demonstrate impact of the variants on protein but not aimed at establishing gene-disease causation.; to: Five individuals from two unrelated families reported with missense variants. Functional studies in yeast to demonstrate impact of the variants on protein and cardiac dysfunction observed in Drosophila model.
Mitochondrial disease v0.349 PPCS Zornitza Stark gene: PPCS was added
gene: PPCS was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: PPCS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPCS were set to 29754768
Phenotypes for gene: PPCS were set to Cardiomyopathy, dilated, 2C, MIM# 618189
Review for gene: PPCS was set to AMBER
Added comment: Five individuals from two unrelated families reported with missense variants. Functional studies in yeast to demonstrate impact of the variants on protein and cardiac dysfunction observed in Drosophila model.
Sources: Expert list
Rhabdomyolysis and Metabolic Myopathy v0.12 ACADM Bryony Thompson Deleted their comment
Mendeliome v0.2204 PPCS Zornitza Stark reviewed gene: PPCS: Rating: AMBER; Mode of pathogenicity: None; Publications: 29754768; Phenotypes: Cardiomyopathy, dilated, 2C, MIM# 618189; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dilated Cardiomyopathy v0.30 PPCS Zornitza Stark Marked gene: PPCS as ready
Dilated Cardiomyopathy v0.30 PPCS Zornitza Stark Gene: ppcs has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.30 PPCS Zornitza Stark Classified gene: PPCS as Amber List (moderate evidence)
Dilated Cardiomyopathy v0.30 PPCS Zornitza Stark Gene: ppcs has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.29 PPCS Zornitza Stark gene: PPCS was added
gene: PPCS was added to Dilated Cardiomyopathy. Sources: Expert list
Mode of inheritance for gene: PPCS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPCS were set to 29754768
Phenotypes for gene: PPCS were set to Cardiomyopathy, dilated, 2C, MIM# 618189
Review for gene: PPCS was set to AMBER
Added comment: Five individuals from two unrelated families reported with missense variants. Functional studies in yeast to demonstrate impact of the variants on protein but not aimed at establishing gene-disease causation.
Sources: Expert list
Mendeliome v0.2204 PET117 Zornitza Stark Marked gene: PET117 as ready
Mendeliome v0.2204 PET117 Zornitza Stark Gene: pet117 has been classified as Red List (Low Evidence).
Mendeliome v0.2204 PET117 Zornitza Stark gene: PET117 was added
gene: PET117 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: PET117 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PET117 were set to 28386624
Phenotypes for gene: PET117 were set to Developmental delay; Regression; Complex IV deficiency
Review for gene: PET117 was set to RED
Added comment: Two siblings reported, some functional data. PET117 postulated to be a Complex IV assembly factor.
Sources: Expert list
Cutis Laxa v0.1 Bryony Thompson Panel status changed from internal to public
Panel types changed to Royal Melbourne Hospital; Rare Disease
Microcephaly v0.109 NUP188 Zornitza Stark Phenotypes for gene: NUP188 were changed from microcephaly; ID; cataract to microcephaly; ID; cataract; structural brain abnormalities; hypoventilation
Microcephaly v0.108 NUP188 Zornitza Stark Publications for gene: NUP188 were set to https://doi.org/10.1159/000504818; 28726809
Microcephaly v0.107 NUP188 Zornitza Stark Classified gene: NUP188 as Green List (high evidence)
Microcephaly v0.107 NUP188 Zornitza Stark Gene: nup188 has been classified as Green List (High Evidence).
Microcephaly v0.106 NUP188 Zornitza Stark edited their review of gene: NUP188: Added comment: Additional 6 unrelated individuals with bi-allelic LoF variants reported, promoted to Green.; Changed rating: GREEN; Changed publications: 32021605, 28726809, 32275884; Changed phenotypes: microcephaly, ID, cataract, structural brain abnormalities, hypoventilation
Mendeliome v0.2203 NUP188 Zornitza Stark Phenotypes for gene: NUP188 were changed from microcephaly; ID; cataract to microcephaly; ID; cataract; structural brain abnormalities; hypoventilation
Mendeliome v0.2202 NUP188 Zornitza Stark Publications for gene: NUP188 were set to https://doi.org/10.1159/000504818; 28726809
Mendeliome v0.2201 NUP188 Zornitza Stark Classified gene: NUP188 as Green List (high evidence)
Mendeliome v0.2201 NUP188 Zornitza Stark Gene: nup188 has been classified as Green List (High Evidence).
Mendeliome v0.2200 NUP188 Zornitza Stark edited their review of gene: NUP188: Added comment: Additional 6 unrelated individuals with bi-allelic LoF variants reported, promoted to Green.; Changed rating: GREEN; Changed publications: 32021605, 28726809, 32275884; Changed phenotypes: microcephaly, ID, cataract, structural brain abnormalities, hypoventilation
Cataract v0.110 NUP188 Zornitza Stark Phenotypes for gene: NUP188 were changed from microcephaly; ID; cataract to microcephaly; ID; cataract; structural brain abnormalities; hypoventilation
Cataract v0.109 NUP188 Zornitza Stark Publications for gene: NUP188 were set to https://doi.org/10.1159/000504818; 28726809
Cataract v0.108 NUP188 Zornitza Stark Classified gene: NUP188 as Green List (high evidence)
Cataract v0.108 NUP188 Zornitza Stark Gene: nup188 has been classified as Green List (High Evidence).
Cataract v0.107 NUP188 Zornitza Stark edited their review of gene: NUP188: Added comment: Additional 6 unrelated individuals with bi-allelic LoF variants reported, promoted to Green.; Changed rating: GREEN; Changed publications: 32021605, 28726809, 32275884; Changed phenotypes: microcephaly, ID, cataract, structural brain abnormalities, hypoventilation
Intellectual disability syndromic and non-syndromic v0.2521 NUP188 Zornitza Stark Phenotypes for gene: NUP188 were changed from microcephaly; ID; cataract to microcephaly; ID; cataract; structural brain abnormalities; hypoventilation
Intellectual disability syndromic and non-syndromic v0.2520 NUP188 Zornitza Stark Publications for gene: NUP188 were set to https://doi.org/10.1159/000504818; 28726809
Intellectual disability syndromic and non-syndromic v0.2519 NUP188 Zornitza Stark Classified gene: NUP188 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2519 NUP188 Zornitza Stark Gene: nup188 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2518 NUP188 Zornitza Stark changed review comment from: Additional 6 unrelated individuals reported, promoted to Green.; to: Additional 6 unrelated individuals with bi-allelic LoF variants reported, promoted to Green.
Intellectual disability syndromic and non-syndromic v0.2518 NUP188 Zornitza Stark edited their review of gene: NUP188: Added comment: Additional 6 unrelated individuals reported, promoted to Green.; Changed rating: GREEN; Changed publications: 32021605, 28726809, 32275884; Changed phenotypes: microcephaly, ID, cataract, structural brain abnormalities, hypoventilation
Mendeliome v0.2200 TMTC2 Zornitza Stark Marked gene: TMTC2 as ready
Mendeliome v0.2200 TMTC2 Zornitza Stark Gene: tmtc2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2200 TMTC2 Zornitza Stark Phenotypes for gene: TMTC2 were changed from to Deafness
Mendeliome v0.2199 TMTC2 Zornitza Stark Publications for gene: TMTC2 were set to
Mendeliome v0.2198 TBCD Zornitza Stark Marked gene: TBCD as ready
Mendeliome v0.2198 TBCD Zornitza Stark Gene: tbcd has been classified as Green List (High Evidence).
Mendeliome v0.2198 TBCD Zornitza Stark Phenotypes for gene: TBCD were changed from to Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193
Mendeliome v0.2197 TBCD Zornitza Stark Publications for gene: TBCD were set to
Mendeliome v0.2196 TBCD Zornitza Stark Mode of inheritance for gene: TBCD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2195 TMTC2 Zornitza Stark Mode of inheritance for gene: TMTC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2194 TMTC2 Zornitza Stark Classified gene: TMTC2 as Amber List (moderate evidence)
Mendeliome v0.2194 TMTC2 Zornitza Stark Gene: tmtc2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2193 UMOD Zornitza Stark Marked gene: UMOD as ready
Mendeliome v0.2193 UMOD Zornitza Stark Gene: umod has been classified as Green List (High Evidence).
Mendeliome v0.2193 TOR1AIP1 Zornitza Stark Marked gene: TOR1AIP1 as ready
Mendeliome v0.2193 TOR1AIP1 Zornitza Stark Gene: tor1aip1 has been classified as Green List (High Evidence).
Mendeliome v0.2193 UPK3A Zornitza Stark Marked gene: UPK3A as ready
Mendeliome v0.2193 UPK3A Zornitza Stark Gene: upk3a has been classified as Red List (Low Evidence).
Mendeliome v0.2193 UMOD Zornitza Stark Phenotypes for gene: UMOD were changed from to Glomerulocystic kidney disease with hyperuricemia and isosthenuria 609886; Hyperuricemic nephropathy, familial juvenile 1 162000; Medullary cystic kidney disease 2 603860
Mendeliome v0.2192 UMOD Zornitza Stark reviewed gene: UMOD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glomerulocystic kidney disease with hyperuricemia and isosthenuria 609886, Hyperuricemic nephropathy, familial juvenile 1 162000, Medullary cystic kidney disease 2 603860; Mode of inheritance: None
Mendeliome v0.2192 UPK3A Zornitza Stark Phenotypes for gene: UPK3A were changed from to CAKUT
Mendeliome v0.2191 UPK3A Zornitza Stark Publications for gene: UPK3A were set to
Mendeliome v0.2190 UPK3A Zornitza Stark Classified gene: UPK3A as Red List (low evidence)
Mendeliome v0.2190 UPK3A Zornitza Stark Gene: upk3a has been classified as Red List (Low Evidence).
Mendeliome v0.2189 VARS Zornitza Stark Marked gene: VARS as ready
Mendeliome v0.2189 VARS Zornitza Stark Gene: vars has been classified as Green List (High Evidence).
Mendeliome v0.2189 VARS Zornitza Stark Phenotypes for gene: VARS were changed from to Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy; OMIM #617802
Mendeliome v0.2188 WNT10A Zornitza Stark Marked gene: WNT10A as ready
Mendeliome v0.2188 WNT10A Zornitza Stark Gene: wnt10a has been classified as Green List (High Evidence).
Regression v0.105 ZNF592 Zornitza Stark Marked gene: ZNF592 as ready
Regression v0.105 ZNF592 Zornitza Stark Gene: znf592 has been classified as Red List (Low Evidence).
Mendeliome v0.2188 WNT10A Zornitza Stark Phenotypes for gene: WNT10A were changed from to Odontoonychodermal dysplasia; Schopf-Schulz-Passarge syndrome; Tooth agenesis, selective, 4
Mendeliome v0.2187 WNT10A Zornitza Stark Publications for gene: WNT10A were set to
Mendeliome v0.2186 WNT10A Zornitza Stark Mode of inheritance for gene: WNT10A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Regression v0.105 ZNF592 Zornitza Stark Phenotypes for gene: ZNF592 were changed from to SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5
Regression v0.104 ZNF592 Zornitza Stark Publications for gene: ZNF592 were set to
Regression v0.103 ZNF592 Zornitza Stark Mode of inheritance for gene: ZNF592 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.102 ZNF592 Zornitza Stark Classified gene: ZNF592 as Red List (low evidence)
Regression v0.102 ZNF592 Zornitza Stark Gene: znf592 has been classified as Red List (Low Evidence).
Mendeliome v0.2185 ZNF592 Zornitza Stark Marked gene: ZNF592 as ready
Mendeliome v0.2185 ZNF592 Zornitza Stark Gene: znf592 has been classified as Red List (Low Evidence).
Regression v0.101 ZNF592 Zornitza Stark reviewed gene: ZNF592: Rating: RED; Mode of pathogenicity: None; Publications: 20531441, 26123727; Phenotypes: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2185 ZNF592 Zornitza Stark Phenotypes for gene: ZNF592 were changed from to SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5
Mendeliome v0.2184 ZNF592 Zornitza Stark Mode of inheritance for gene: ZNF592 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2183 ZNF592 Zornitza Stark Publications for gene: ZNF592 were set to
Mendeliome v0.2182 ZNF592 Zornitza Stark Classified gene: ZNF592 as Red List (low evidence)
Mendeliome v0.2182 ZNF592 Zornitza Stark Gene: znf592 has been classified as Red List (Low Evidence).
Mendeliome v0.2181 CLIC5 Zornitza Stark Marked gene: CLIC5 as ready
Mendeliome v0.2181 CLIC5 Zornitza Stark Gene: clic5 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2181 GNB2 Zornitza Stark Marked gene: GNB2 as ready
Mendeliome v0.2181 GNB2 Zornitza Stark Gene: gnb2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2181 MIR96 Zornitza Stark Marked gene: MIR96 as ready
Mendeliome v0.2181 MIR96 Zornitza Stark Gene: mir96 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2181 MYL1 Zornitza Stark Marked gene: MYL1 as ready
Mendeliome v0.2181 MYL1 Zornitza Stark Gene: myl1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2181 APOL1 Zornitza Stark Marked gene: APOL1 as ready
Mendeliome v0.2181 APOL1 Zornitza Stark Gene: apol1 has been classified as Red List (Low Evidence).
Mendeliome v0.2181 ARHGEF6 Zornitza Stark Marked gene: ARHGEF6 as ready
Mendeliome v0.2181 ARHGEF6 Zornitza Stark Gene: arhgef6 has been classified as Red List (Low Evidence).
Mendeliome v0.2181 CEP85L Zornitza Stark Marked gene: CEP85L as ready
Mendeliome v0.2181 CEP85L Zornitza Stark Gene: cep85l has been classified as Green List (High Evidence).
Mendeliome v0.2181 CEP85L Zornitza Stark Classified gene: CEP85L as Green List (high evidence)
Mendeliome v0.2181 CEP85L Zornitza Stark Gene: cep85l has been classified as Green List (High Evidence).
Mendeliome v0.2180 MIEF2 Zornitza Stark Marked gene: MIEF2 as ready
Mendeliome v0.2180 MIEF2 Zornitza Stark Gene: mief2 has been classified as Red List (Low Evidence).
Mendeliome v0.2180 POLE2 Zornitza Stark Marked gene: POLE2 as ready
Mendeliome v0.2180 POLE2 Zornitza Stark Gene: pole2 has been classified as Red List (Low Evidence).
Mendeliome v0.2180 PTCD1 Zornitza Stark Marked gene: PTCD1 as ready
Mendeliome v0.2180 PTCD1 Zornitza Stark Gene: ptcd1 has been classified as Red List (Low Evidence).
Mendeliome v0.2180 TFAM Zornitza Stark Marked gene: TFAM as ready
Mendeliome v0.2180 TFAM Zornitza Stark Gene: tfam has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2180 TFAM Zornitza Stark Classified gene: TFAM as Amber List (moderate evidence)
Mendeliome v0.2180 TFAM Zornitza Stark Gene: tfam has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2179 NME3 Zornitza Stark Marked gene: NME3 as ready
Mendeliome v0.2179 NME3 Zornitza Stark Gene: nme3 has been classified as Red List (Low Evidence).
Mendeliome v0.2179 NME3 Zornitza Stark gene: NME3 was added
gene: NME3 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: NME3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NME3 were set to 30587587
Phenotypes for gene: NME3 were set to Hypotonia; Neurodegeneration; Abnormal mitochondrial dynamics
Review for gene: NME3 was set to RED
Added comment: Single individual reported. NME3 is a mitochondrial outer-membrane protein capable of interacting with MFN1/2, and its depletion causes dysfunction in mitochondrial dynamics
Sources: Expert list
Mitochondrial disease v0.348 NME3 Zornitza Stark Marked gene: NME3 as ready
Mitochondrial disease v0.348 NME3 Zornitza Stark Gene: nme3 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.348 NME3 Zornitza Stark gene: NME3 was added
gene: NME3 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: NME3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NME3 were set to 30587587
Phenotypes for gene: NME3 were set to Hypotonia; Neurodegeneration; Abnormal mitochondrial dynamics
Review for gene: NME3 was set to RED
Added comment: Single individual reported. NME3 is a mitochondrial outer-membrane protein capable of interacting with MFN1/2, and its depletion causes dysfunction in mitochondrial dynamics.
Sources: Expert list
Mendeliome v0.2178 MRPS28 Zornitza Stark Marked gene: MRPS28 as ready
Mendeliome v0.2178 MRPS28 Zornitza Stark Gene: mrps28 has been classified as Red List (Low Evidence).
Mendeliome v0.2178 MRPS28 Zornitza Stark gene: MRPS28 was added
gene: MRPS28 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: MRPS28 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPS28 were set to 30566640
Phenotypes for gene: MRPS28 were set to Intrauterine growth retardation; developmental delay; dysmorphism
Review for gene: MRPS28 was set to RED
Added comment: Single individual reported.
Sources: Expert list
Mitochondrial disease v0.347 MRPS28 Zornitza Stark Marked gene: MRPS28 as ready
Mitochondrial disease v0.347 MRPS28 Zornitza Stark Gene: mrps28 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.347 MRPS28 Zornitza Stark gene: MRPS28 was added
gene: MRPS28 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: MRPS28 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPS28 were set to 30566640
Phenotypes for gene: MRPS28 were set to Intrauterine growth retardation; developmental delay; dysmorphism
Review for gene: MRPS28 was set to RED
Added comment: Single individual reported.
Sources: Expert list
Mendeliome v0.2177 MRPS25 Zornitza Stark Marked gene: MRPS25 as ready
Mendeliome v0.2177 MRPS25 Zornitza Stark Gene: mrps25 has been classified as Red List (Low Evidence).
Mendeliome v0.2177 MRPS25 Zornitza Stark gene: MRPS25 was added
gene: MRPS25 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: MRPS25 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPS25 were set to 31039582
Phenotypes for gene: MRPS25 were set to Dyskinetic cerebral palsy; Mitochondrial myopathy; Partial agenesis of the corpus callosum
Review for gene: MRPS25 was set to RED
Added comment: Single individual reported.
Sources: Expert list
Mitochondrial disease v0.346 MRPS25 Zornitza Stark Marked gene: MRPS25 as ready
Mitochondrial disease v0.346 MRPS25 Zornitza Stark Gene: mrps25 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.346 MRPS25 Zornitza Stark gene: MRPS25 was added
gene: MRPS25 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: MRPS25 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPS25 were set to 31039582
Phenotypes for gene: MRPS25 were set to Dyskinetic cerebral palsy; Mitochondrial myopathy; Partial agenesis of the corpus callosum
Review for gene: MRPS25 was set to RED
Added comment: Single individual reported.
Sources: Expert list
Mendeliome v0.2176 MRPS23 Zornitza Stark Phenotypes for gene: MRPS23 were changed from Hepatic disease; Combined respiratory chain complex deficiencies to Hepatic disease; Combined respiratory chain complex deficienciesHepatic disease; Combined respiratory chain complex deficiencies; Cardiomyopathy; Tubulopathy; Lactic acidosis; Structural brain abnormalities
Mendeliome v0.2175 MRPS23 Zornitza Stark Publications for gene: MRPS23 were set to 26741492
Mendeliome v0.2174 MRPS23 Zornitza Stark Classified gene: MRPS23 as Green List (high evidence)
Mendeliome v0.2174 MRPS23 Zornitza Stark Gene: mrps23 has been classified as Green List (High Evidence).
Mendeliome v0.2173 MRPS23 Zornitza Stark Deleted their comment
Mendeliome v0.2173 MRPS23 Zornitza Stark edited their review of gene: MRPS23: Added comment: Four families reported.; Changed rating: GREEN; Changed publications: 26741492, 17873122, 25663021, 28752220; Changed phenotypes: Hepatic disease, Combined respiratory chain complex deficiencies, Cardiomyopathy, Tubulopathy, Lactic acidosis, Structural brain abnormalities
Mitochondrial disease v0.345 MRPS23 Zornitza Stark Phenotypes for gene: MRPS23 were changed from Hepatic disease; Combined respiratory chain complex deficiencies to Hepatic disease; Combined respiratory chain complex deficiencies; Cardiomyopathy; Tubulopathy; Lactic acidosis; Structural brain abnormalities
Mitochondrial disease v0.344 MRPS23 Zornitza Stark Publications for gene: MRPS23 were set to 26741492
Mitochondrial disease v0.343 MRPS23 Zornitza Stark Classified gene: MRPS23 as Green List (high evidence)
Mitochondrial disease v0.343 MRPS23 Zornitza Stark Gene: mrps23 has been classified as Green List (High Evidence).
Mitochondrial disease v0.342 MRPS23 Zornitza Stark edited their review of gene: MRPS23: Changed rating: GREEN
Mitochondrial disease v0.342 MRPS23 Zornitza Stark changed review comment from: Single family reported.; to: Four families reported.
Mitochondrial disease v0.342 MRPS23 Zornitza Stark edited their review of gene: MRPS23: Changed publications: 26741492, 17873122, 25663021, 28752220; Changed phenotypes: Hepatic disease, Combined respiratory chain complex deficiencies, Cardiomyopathy, Tubulopathy, Lactic acidosis, Structural brain abnormalities
Mitochondrial disease v0.342 MRPS22 Zornitza Stark Marked gene: MRPS22 as ready
Mitochondrial disease v0.342 MRPS22 Zornitza Stark Gene: mrps22 has been classified as Green List (High Evidence).
Mitochondrial disease v0.342 MRPS22 Zornitza Stark Phenotypes for gene: MRPS22 were changed from to Combined oxidative phosphorylation deficiency 5, MIM# 611719
Mitochondrial disease v0.341 MRPS22 Zornitza Stark Publications for gene: MRPS22 were set to
Mitochondrial disease v0.340 MRPS22 Zornitza Stark Mode of inheritance for gene: MRPS22 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.339 MRPS22 Zornitza Stark reviewed gene: MRPS22: Rating: GREEN; Mode of pathogenicity: None; Publications: 17873122, 25663021, 28752220; Phenotypes: Combined oxidative phosphorylation deficiency 5, MIM# 611719; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.339 MRPS2 Zornitza Stark Marked gene: MRPS2 as ready
Mitochondrial disease v0.339 MRPS2 Zornitza Stark Gene: mrps2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.339 MRPS2 Zornitza Stark Phenotypes for gene: MRPS2 were changed from to Combined oxidative phosphorylation deficiency 36, MIM# 617950
Mitochondrial disease v0.338 MRPS2 Zornitza Stark Publications for gene: MRPS2 were set to
Mitochondrial disease v0.337 MRPS2 Zornitza Stark Mode of inheritance for gene: MRPS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.336 MRPS2 Zornitza Stark reviewed gene: MRPS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29576219; Phenotypes: Combined oxidative phosphorylation deficiency 36, MIM# 617950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2173 MIEF2 Zornitza Stark gene: MIEF2 was added
gene: MIEF2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: MIEF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MIEF2 were set to 29361167
Phenotypes for gene: MIEF2 were set to Progressive muscle weakness; Exercise intolerance; Ragged red and COX negative fibres; Complex I and IV deficiency
Review for gene: MIEF2 was set to RED
Added comment: Single individual reported.
Sources: Expert list
Mitochondrial disease v0.336 MIEF2 Zornitza Stark Marked gene: MIEF2 as ready
Mitochondrial disease v0.336 MIEF2 Zornitza Stark Gene: mief2 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.336 MIEF2 Zornitza Stark gene: MIEF2 was added
gene: MIEF2 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: MIEF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MIEF2 were set to 29361167
Phenotypes for gene: MIEF2 were set to Progressive muscle weakness; Exercise intolerance; Ragged red and COX negative fibres; Complex I and IV deficiency
Review for gene: MIEF2 was set to RED
Added comment: Single individual reported.
Sources: Expert list
Deafness_IsolatedAndComplex v0.331 HAAO Zornitza Stark edited their review of gene: HAAO: Changed rating: GREEN; Changed phenotypes: Vertebral, cardiac, renal, and limb defects syndrome 1, MIM# 617660
Mitochondrial disease v0.335 EXOSC3 Zornitza Stark Marked gene: EXOSC3 as ready
Mitochondrial disease v0.335 EXOSC3 Zornitza Stark Gene: exosc3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.335 EXOSC3 Zornitza Stark Classified gene: EXOSC3 as Amber List (moderate evidence)
Mitochondrial disease v0.335 EXOSC3 Zornitza Stark Gene: exosc3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.334 EXOSC3 Zornitza Stark gene: EXOSC3 was added
gene: EXOSC3 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOSC3 were set to 28687512
Phenotypes for gene: EXOSC3 were set to Pontocerebellar hypoplasia, type 1B 614678; Intellectual disability; Microcephaly; Hypotonia; Mitochondrial dysfunction
Review for gene: EXOSC3 was set to AMBER
Added comment: Gene-disease association with PCH is well established; one individual reported with mitochondrial dysfunction, postulated to be due to reduced degradation by a dysfunctional exosome complex.
Sources: Expert list
Deafness_IsolatedAndComplex v0.331 ERAL1 Zornitza Stark Marked gene: ERAL1 as ready
Deafness_IsolatedAndComplex v0.331 ERAL1 Zornitza Stark Gene: eral1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.331 ERAL1 Zornitza Stark Classified gene: ERAL1 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.331 ERAL1 Zornitza Stark Gene: eral1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.330 ERAL1 Zornitza Stark gene: ERAL1 was added
gene: ERAL1 was added to Deafness. Sources: Expert list
Mode of inheritance for gene: ERAL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERAL1 were set to 28449065
Phenotypes for gene: ERAL1 were set to Perrault syndrome 6, MIM# 617565
Review for gene: ERAL1 was set to AMBER
Added comment: Three individuals from same small geographical location with homozygous missense variant in this gene, functional data.
Sources: Expert list
Mendeliome v0.2172 ERAL1 Zornitza Stark Marked gene: ERAL1 as ready
Mendeliome v0.2172 ERAL1 Zornitza Stark Gene: eral1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2172 ERAL1 Zornitza Stark Classified gene: ERAL1 as Amber List (moderate evidence)
Mendeliome v0.2172 ERAL1 Zornitza Stark Gene: eral1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2171 ERAL1 Zornitza Stark gene: ERAL1 was added
gene: ERAL1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: ERAL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERAL1 were set to 28449065
Phenotypes for gene: ERAL1 were set to Perrault syndrome 6, MIM# 617565
Review for gene: ERAL1 was set to AMBER
Added comment: Three individuals from same small geographical location with homozygous missense variant in this gene, functional data.
Sources: Expert list
Mitochondrial disease v0.333 ERAL1 Zornitza Stark Marked gene: ERAL1 as ready
Mitochondrial disease v0.333 ERAL1 Zornitza Stark Gene: eral1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.333 ERAL1 Zornitza Stark Classified gene: ERAL1 as Amber List (moderate evidence)
Mitochondrial disease v0.333 ERAL1 Zornitza Stark Gene: eral1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.332 ERAL1 Zornitza Stark gene: ERAL1 was added
gene: ERAL1 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: ERAL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERAL1 were set to 28449065
Phenotypes for gene: ERAL1 were set to Perrault syndrome 6, MIM# 617565
Review for gene: ERAL1 was set to AMBER
Added comment: Three individuals from same small geographical location with homozygous missense variant in this gene, functional data.
Sources: Expert list
Mendeliome v0.2170 COX5A Zornitza Stark Marked gene: COX5A as ready
Mendeliome v0.2170 COX5A Zornitza Stark Gene: cox5a has been classified as Red List (Low Evidence).
Mendeliome v0.2170 COX5A Zornitza Stark gene: COX5A was added
gene: COX5A was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: COX5A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX5A were set to 2824752
Phenotypes for gene: COX5A were set to pulmonary arterial hypertension; lactic acidemia; failure to thrive; isolated complex IV deficiency
Review for gene: COX5A was set to RED
Added comment: Single family reported.
Sources: Expert list
Mitochondrial disease v0.331 COX4I1 Zornitza Stark reviewed gene: COX4I1: Rating: RED; Mode of pathogenicity: None; Publications: 28766551, 22592081; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.331 CHKB Zornitza Stark Marked gene: CHKB as ready
Mitochondrial disease v0.331 CHKB Zornitza Stark Gene: chkb has been classified as Green List (High Evidence).
Mitochondrial disease v0.331 CHKB Zornitza Stark Classified gene: CHKB as Green List (high evidence)
Mitochondrial disease v0.331 CHKB Zornitza Stark Gene: chkb has been classified as Green List (High Evidence).
Mitochondrial disease v0.330 CHKB Zornitza Stark gene: CHKB was added
gene: CHKB was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: CHKB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHKB were set to 21665002; 23692895; 24997086
Phenotypes for gene: CHKB were set to Muscular dystrophy, congenital, megaconial type, MIM# 602541; Intellectual disability; Abnormal mitochondria
Review for gene: CHKB was set to GREEN
Added comment: Congenital muscular dystrophy characterized by early-onset muscle wasting, intellectual disability, and enlarged mitochondria that are prevalent toward the periphery of the fibers but are sparse in the center on muscle biopsy.
Sources: Expert list
Mitochondrial disease v0.329 C1QBP Zornitza Stark Marked gene: C1QBP as ready
Mitochondrial disease v0.329 C1QBP Zornitza Stark Gene: c1qbp has been classified as Green List (High Evidence).
Mitochondrial disease v0.329 C1QBP Zornitza Stark Phenotypes for gene: C1QBP were changed from to Combined oxidative phosphorylation deficiency 33, MIM# 617713
Mitochondrial disease v0.328 C1QBP Zornitza Stark Publications for gene: C1QBP were set to
Mitochondrial disease v0.327 C1QBP Zornitza Stark Mode of inheritance for gene: C1QBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.326 C1QBP Zornitza Stark reviewed gene: C1QBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 28942965; Phenotypes: Combined oxidative phosphorylation deficiency 33, MIM# 617713; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2518 NDUFS4 Zornitza Stark reviewed gene: NDUFS4: Rating: GREEN; Mode of pathogenicity: None; Publications: 10944442, 27079373, 19107570, 12616398; Phenotypes: Mitochondrial complex I deficiency, nuclear type 1, 252010, Leigh syndrome, MIM#252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.326 NDUFS4 Zornitza Stark Marked gene: NDUFS4 as ready
Mitochondrial disease v0.326 NDUFS4 Zornitza Stark Gene: ndufs4 has been classified as Green List (High Evidence).
Mitochondrial disease v0.326 NDUFS4 Zornitza Stark Phenotypes for gene: NDUFS4 were changed from Mitochondrial complex I deficiency, nuclear type 1, 252010; Leigh syndrome to Mitochondrial complex I deficiency, nuclear type 1, 252010; Leigh syndrome, MIM#252010
Mitochondrial disease v0.325 NDUFS4 Zornitza Stark Phenotypes for gene: NDUFS4 were changed from to Mitochondrial complex I deficiency, nuclear type 1, 252010; Leigh syndrome
Mitochondrial disease v0.324 NDUFS4 Zornitza Stark Publications for gene: NDUFS4 were set to
Mitochondrial disease v0.323 NDUFS4 Zornitza Stark Mode of inheritance for gene: NDUFS4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Predominantly Antibody Deficiency v0.58 PIK3CD Zornitza Stark Mode of inheritance for gene: PIK3CD was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Predominantly Antibody Deficiency v0.57 PIK3CD Zornitza Stark changed review comment from: Multiple individuals reported with GoF variants, most commonly E1021K.; to: Multiple individuals reported with GoF variants, most commonly E1021K. Note recent reports of bi-allelic variants causing disease: severe bacterial infections, and increased chance of autoimmunity.
Predominantly Antibody Deficiency v0.57 PIK3CD Zornitza Stark edited their review of gene: PIK3CD: Changed publications: 24136356, 30018075, 24165795, 31073077; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phagocyte Defects v0.37 WDR1 Zornitza Stark Phenotypes for gene: WDR1 were changed from Neutropaenia; Poor wound healing; Severe stomatitis; Neutrophil nuclei herniate to Neutropaenia; Poor wound healing; Severe stomatitis; Neutrophil nuclei herniate; Autoinflammatory periodic fever; Thrombocytopaenia
Phagocyte Defects v0.36 WDR1 Zornitza Stark edited their review of gene: WDR1: Changed phenotypes: Autoinflammatory periodic fever, neutrophil dysfunction, immunodeficiency, and thrombocytopenia
Defects of intrinsic and innate immunity v0.41 TRAF3IP2 Zornitza Stark Marked gene: TRAF3IP2 as ready
Defects of intrinsic and innate immunity v0.41 TRAF3IP2 Zornitza Stark Gene: traf3ip2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2169 TRAF3IP2 Zornitza Stark Marked gene: TRAF3IP2 as ready
Mendeliome v0.2169 TRAF3IP2 Zornitza Stark Gene: traf3ip2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2169 TRAF3IP2 Zornitza Stark Phenotypes for gene: TRAF3IP2 were changed from to Candidiasis, familial, 8, MIM# 615527
Mendeliome v0.2168 TRAF3IP2 Zornitza Stark Publications for gene: TRAF3IP2 were set to
Mendeliome v0.2167 TRAF3IP2 Zornitza Stark Mode of inheritance for gene: TRAF3IP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.41 TRAF3IP2 Zornitza Stark Phenotypes for gene: TRAF3IP2 were changed from to Candidiasis, familial, 8, MIM# 615527
Mendeliome v0.2166 TRAF3IP2 Zornitza Stark Classified gene: TRAF3IP2 as Amber List (moderate evidence)
Mendeliome v0.2166 TRAF3IP2 Zornitza Stark Gene: traf3ip2 has been classified as Amber List (Moderate Evidence).
Defects of intrinsic and innate immunity v0.40 TRAF3IP2 Zornitza Stark Publications for gene: TRAF3IP2 were set to
Mendeliome v0.2165 TRAF3IP2 Zornitza Stark reviewed gene: TRAF3IP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24120361, 31292894, 20660351; Phenotypes: Candidiasis, familial, 8, MIM# 615527; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.39 TRAF3IP2 Zornitza Stark Mode of inheritance for gene: TRAF3IP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.38 TRAF3IP2 Zornitza Stark Classified gene: TRAF3IP2 as Amber List (moderate evidence)
Defects of intrinsic and innate immunity v0.38 TRAF3IP2 Zornitza Stark Gene: traf3ip2 has been classified as Amber List (Moderate Evidence).
Defects of intrinsic and innate immunity v0.37 TRAF3IP2 Zornitza Stark reviewed gene: TRAF3IP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24120361, 31292894, 20660351; Phenotypes: Candidiasis, familial, 8, MIM# 615527; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2165 TRAF3 Zornitza Stark Marked gene: TRAF3 as ready
Mendeliome v0.2165 TRAF3 Zornitza Stark Gene: traf3 has been classified as Red List (Low Evidence).
Mendeliome v0.2165 TRAF3 Zornitza Stark Phenotypes for gene: TRAF3 were changed from to {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, MIM# 614849
Mendeliome v0.2164 TRAF3 Zornitza Stark Publications for gene: TRAF3 were set to
Mendeliome v0.2163 TRAF3 Zornitza Stark Mode of inheritance for gene: TRAF3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2162 TRAF3 Zornitza Stark Classified gene: TRAF3 as Red List (low evidence)
Mendeliome v0.2162 TRAF3 Zornitza Stark Gene: traf3 has been classified as Red List (Low Evidence).
Mendeliome v0.2161 TRAF3 Zornitza Stark reviewed gene: TRAF3: Rating: RED; Mode of pathogenicity: None; Publications: 20832341; Phenotypes: {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, MIM# 614849; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Susceptibility to Viral Infections v0.34 TRAF3 Zornitza Stark Marked gene: TRAF3 as ready
Susceptibility to Viral Infections v0.34 TRAF3 Zornitza Stark Gene: traf3 has been classified as Red List (Low Evidence).
Susceptibility to Viral Infections v0.34 TRAF3 Zornitza Stark Phenotypes for gene: TRAF3 were changed from to {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, MIM# 614849
Susceptibility to Viral Infections v0.33 TRAF3 Zornitza Stark Publications for gene: TRAF3 were set to
Susceptibility to Viral Infections v0.32 TRAF3 Zornitza Stark Mode of inheritance for gene: TRAF3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Susceptibility to Viral Infections v0.31 TRAF3 Zornitza Stark Classified gene: TRAF3 as Red List (low evidence)
Susceptibility to Viral Infections v0.31 TRAF3 Zornitza Stark Gene: traf3 has been classified as Red List (Low Evidence).
Susceptibility to Viral Infections v0.30 TRAF3 Zornitza Stark reviewed gene: TRAF3: Rating: RED; Mode of pathogenicity: None; Publications: 20832341; Phenotypes: {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, MIM# 614849; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Defects of intrinsic and innate immunity v0.37 TRAF3 Zornitza Stark Marked gene: TRAF3 as ready
Defects of intrinsic and innate immunity v0.37 TRAF3 Zornitza Stark Gene: traf3 has been classified as Red List (Low Evidence).
Defects of intrinsic and innate immunity v0.37 TRAF3 Zornitza Stark Phenotypes for gene: TRAF3 were changed from to {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, MIM# 614849
Defects of intrinsic and innate immunity v0.36 TRAF3 Zornitza Stark Publications for gene: TRAF3 were set to
Defects of intrinsic and innate immunity v0.35 TRAF3 Zornitza Stark Mode of inheritance for gene: TRAF3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Defects of intrinsic and innate immunity v0.34 TRAF3 Zornitza Stark Classified gene: TRAF3 as Red List (low evidence)
Defects of intrinsic and innate immunity v0.34 TRAF3 Zornitza Stark Gene: traf3 has been classified as Red List (Low Evidence).
Defects of intrinsic and innate immunity v0.33 TRAF3 Zornitza Stark reviewed gene: TRAF3: Rating: RED; Mode of pathogenicity: None; Publications: 20832341; Phenotypes: {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, MIM# 614849; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Combined Immunodeficiency v0.152 TPP1 Zornitza Stark Marked gene: TPP1 as ready
Combined Immunodeficiency v0.152 TPP1 Zornitza Stark Gene: tpp1 has been classified as Red List (Low Evidence).
Combined Immunodeficiency v0.152 TPP1 Zornitza Stark Phenotypes for gene: TPP1 were changed from to Hoyeraal-Hreidarsson syndrome
Combined Immunodeficiency v0.151 TPP1 Zornitza Stark Publications for gene: TPP1 were set to
Combined Immunodeficiency v0.150 TPP1 Zornitza Stark Mode of inheritance for gene: TPP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.149 TPP1 Zornitza Stark Classified gene: TPP1 as Red List (low evidence)
Combined Immunodeficiency v0.149 TPP1 Zornitza Stark Gene: tpp1 has been classified as Red List (Low Evidence).
Combined Immunodeficiency v0.148 TPP1 Zornitza Stark reviewed gene: TPP1: Rating: RED; Mode of pathogenicity: None; Publications: 25233904; Phenotypes: Hoyeraal-Hreidarsson syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2161 TNFSF12 Zornitza Stark Marked gene: TNFSF12 as ready
Mendeliome v0.2161 TNFSF12 Zornitza Stark Gene: tnfsf12 has been classified as Red List (Low Evidence).
Mendeliome v0.2161 TNFSF12 Zornitza Stark Phenotypes for gene: TNFSF12 were changed from to Recurrent infections, poor antibody responses, decreased immunoglobulins
Mendeliome v0.2160 TNFSF12 Zornitza Stark Publications for gene: TNFSF12 were set to
Mendeliome v0.2159 TNFSF12 Zornitza Stark Mode of inheritance for gene: TNFSF12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2158 TNFSF12 Zornitza Stark Classified gene: TNFSF12 as Red List (low evidence)
Mendeliome v0.2158 TNFSF12 Zornitza Stark Gene: tnfsf12 has been classified as Red List (Low Evidence).
Mendeliome v0.2157 TNFSF12 Zornitza Stark reviewed gene: TNFSF12: Rating: RED; Mode of pathogenicity: None; Publications: 23493554; Phenotypes: Recurrent infections, poor antibody responses, decreased immunoglobulins; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Predominantly Antibody Deficiency v0.57 TNFSF12 Zornitza Stark Marked gene: TNFSF12 as ready
Predominantly Antibody Deficiency v0.57 TNFSF12 Zornitza Stark Gene: tnfsf12 has been classified as Red List (Low Evidence).
Predominantly Antibody Deficiency v0.57 TNFSF12 Zornitza Stark Phenotypes for gene: TNFSF12 were changed from to Recurrent infections, poor antibody responses, decreased immunoglobulins
Predominantly Antibody Deficiency v0.56 TNFSF12 Zornitza Stark Publications for gene: TNFSF12 were set to
Predominantly Antibody Deficiency v0.55 TNFSF12 Zornitza Stark Mode of inheritance for gene: TNFSF12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Predominantly Antibody Deficiency v0.54 TNFSF12 Zornitza Stark Classified gene: TNFSF12 as Red List (low evidence)
Predominantly Antibody Deficiency v0.54 TNFSF12 Zornitza Stark Gene: tnfsf12 has been classified as Red List (Low Evidence).
Predominantly Antibody Deficiency v0.53 TNFSF12 Zornitza Stark reviewed gene: TNFSF12: Rating: RED; Mode of pathogenicity: None; Publications: 23493554; Phenotypes: Recurrent infections, poor antibody responses, decreased immunoglobulins; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2157 TNFRSF4 Zornitza Stark Marked gene: TNFRSF4 as ready
Mendeliome v0.2157 TNFRSF4 Zornitza Stark Gene: tnfrsf4 has been classified as Red List (Low Evidence).
Mendeliome v0.2157 TNFRSF4 Zornitza Stark Phenotypes for gene: TNFRSF4 were changed from to Immunodeficiency 16, MIM# 615593
Mendeliome v0.2156 TNFRSF4 Zornitza Stark Publications for gene: TNFRSF4 were set to
Mendeliome v0.2155 TNFRSF4 Zornitza Stark Mode of inheritance for gene: TNFRSF4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2154 TNFRSF4 Zornitza Stark Classified gene: TNFRSF4 as Red List (low evidence)
Mendeliome v0.2154 TNFRSF4 Zornitza Stark Gene: tnfrsf4 has been classified as Red List (Low Evidence).
Mendeliome v0.2153 TNFRSF4 Zornitza Stark reviewed gene: TNFRSF4: Rating: RED; Mode of pathogenicity: None; Publications: 23897980; Phenotypes: Immunodeficiency 16, MIM# 615593; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.148 TNFRSF4 Zornitza Stark edited their review of gene: TNFRSF4: Changed phenotypes: Immunodeficiency 16, MIM# 615593
Combined Immunodeficiency v0.148 TNFRSF4 Zornitza Stark Marked gene: TNFRSF4 as ready
Combined Immunodeficiency v0.148 TNFRSF4 Zornitza Stark Gene: tnfrsf4 has been classified as Red List (Low Evidence).
Combined Immunodeficiency v0.148 TNFRSF4 Zornitza Stark Phenotypes for gene: TNFRSF4 were changed from to Immunodeficiency 16, MIM# 615593
Combined Immunodeficiency v0.147 TNFRSF4 Zornitza Stark Publications for gene: TNFRSF4 were set to
Combined Immunodeficiency v0.146 TNFRSF4 Zornitza Stark Mode of inheritance for gene: TNFRSF4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.145 TNFRSF4 Zornitza Stark Classified gene: TNFRSF4 as Red List (low evidence)
Combined Immunodeficiency v0.145 TNFRSF4 Zornitza Stark Gene: tnfrsf4 has been classified as Red List (Low Evidence).
Combined Immunodeficiency v0.144 TNFRSF4 Zornitza Stark reviewed gene: TNFRSF4: Rating: RED; Mode of pathogenicity: None; Publications: 23897980; Phenotypes: Immunodeficiency, MIM# 16; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2153 TNFRSF13C Zornitza Stark Marked gene: TNFRSF13C as ready
Mendeliome v0.2153 TNFRSF13C Zornitza Stark Gene: tnfrsf13c has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2153 TNFRSF13C Zornitza Stark Phenotypes for gene: TNFRSF13C were changed from to Immunodeficiency, common variable, 4, MIM# 613494
Mendeliome v0.2152 TNFRSF13C Zornitza Stark Publications for gene: TNFRSF13C were set to
Mendeliome v0.2151 TNFRSF13C Zornitza Stark Mode of inheritance for gene: TNFRSF13C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2150 TNFRSF13C Zornitza Stark Classified gene: TNFRSF13C as Amber List (moderate evidence)
Mendeliome v0.2150 TNFRSF13C Zornitza Stark Gene: tnfrsf13c has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2149 TNFRSF13C Zornitza Stark reviewed gene: TNFRSF13C: Rating: AMBER; Mode of pathogenicity: None; Publications: 19666484, 26613719; Phenotypes: Immunodeficiency, common variable, 4, MIM# 613494; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Predominantly Antibody Deficiency v0.53 TNFRSF13C Zornitza Stark Marked gene: TNFRSF13C as ready
Predominantly Antibody Deficiency v0.53 TNFRSF13C Zornitza Stark Gene: tnfrsf13c has been classified as Amber List (Moderate Evidence).
Predominantly Antibody Deficiency v0.53 TNFRSF13C Zornitza Stark Phenotypes for gene: TNFRSF13C were changed from to Immunodeficiency, common variable, 4, MIM# 613494
Predominantly Antibody Deficiency v0.52 TNFRSF13C Zornitza Stark Publications for gene: TNFRSF13C were set to
Predominantly Antibody Deficiency v0.51 TNFRSF13C Zornitza Stark Mode of inheritance for gene: TNFRSF13C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Predominantly Antibody Deficiency v0.50 TNFRSF13C Zornitza Stark Classified gene: TNFRSF13C as Amber List (moderate evidence)
Predominantly Antibody Deficiency v0.50 TNFRSF13C Zornitza Stark Gene: tnfrsf13c has been classified as Amber List (Moderate Evidence).
Predominantly Antibody Deficiency v0.49 TNFRSF13C Zornitza Stark reviewed gene: TNFRSF13C: Rating: AMBER; Mode of pathogenicity: None; Publications: 19666484, 26613719; Phenotypes: Immunodeficiency, common variable, 4, MIM# 613494; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.322 NDUFS4 Kristin Rigbye reviewed gene: NDUFS4: Rating: GREEN; Mode of pathogenicity: None; Publications: 10944442, 27079373, 19107570, 12616398; Phenotypes: Mitochondrial complex I deficiency, nuclear type 1, 252010, Leigh syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2149 TNFRSF13B Zornitza Stark Marked gene: TNFRSF13B as ready
Mendeliome v0.2149 TNFRSF13B Zornitza Stark Gene: tnfrsf13b has been classified as Green List (High Evidence).
Mendeliome v0.2149 TNFRSF13B Zornitza Stark Phenotypes for gene: TNFRSF13B were changed from to Immunodeficiency, common variable, 2, MIM# 240500
Mendeliome v0.2148 TNFRSF13B Zornitza Stark Publications for gene: TNFRSF13B were set to
Mendeliome v0.2147 TNFRSF13B Zornitza Stark Mode of inheritance for gene: TNFRSF13B was changed from Unknown to Other
Mendeliome v0.2146 TNFRSF13B Zornitza Stark reviewed gene: TNFRSF13B: Rating: GREEN; Mode of pathogenicity: None; Publications: 17392798, 16007086, 18981294, 16007087; Phenotypes: Immunodeficiency, common variable, 2, MIM# 240500; Mode of inheritance: Other
Predominantly Antibody Deficiency v0.49 TNFRSF13B Zornitza Stark Marked gene: TNFRSF13B as ready
Predominantly Antibody Deficiency v0.49 TNFRSF13B Zornitza Stark Gene: tnfrsf13b has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.49 TNFRSF13B Zornitza Stark Phenotypes for gene: TNFRSF13B were changed from to Immunodeficiency, common variable, 2, MIM# 240500
Predominantly Antibody Deficiency v0.48 TNFRSF13B Zornitza Stark Publications for gene: TNFRSF13B were set to
Predominantly Antibody Deficiency v0.47 TNFRSF13B Zornitza Stark Mode of inheritance for gene: TNFRSF13B was changed from Unknown to Other
Predominantly Antibody Deficiency v0.46 TNFRSF13B Zornitza Stark reviewed gene: TNFRSF13B: Rating: GREEN; Mode of pathogenicity: None; Publications: 17392798, 16007086, 18981294, 16007087; Phenotypes: Immunodeficiency, common variable, 2, MIM# 240500; Mode of inheritance: Other
Combined Immunodeficiency v0.144 TINF2 Zornitza Stark Marked gene: TINF2 as ready
Combined Immunodeficiency v0.144 TINF2 Zornitza Stark Gene: tinf2 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.144 TINF2 Zornitza Stark Phenotypes for gene: TINF2 were changed from to Dyskeratosis congenita, autosomal dominant 3, MIM# 613990; Revesz syndrome, MIM# 268130
Combined Immunodeficiency v0.143 TINF2 Zornitza Stark Mode of inheritance for gene: TINF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Combined Immunodeficiency v0.142 TINF2 Zornitza Stark Classified gene: TINF2 as Amber List (moderate evidence)
Combined Immunodeficiency v0.142 TINF2 Zornitza Stark Gene: tinf2 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.141 TINF2 Zornitza Stark reviewed gene: TINF2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyskeratosis congenita, autosomal dominant 3, MIM# 613990, Revesz syndrome, MIM# 268130; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2146 THBD Zornitza Stark Marked gene: THBD as ready
Mendeliome v0.2146 THBD Zornitza Stark Gene: thbd has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2146 THBD Zornitza Stark Phenotypes for gene: THBD were changed from to {Hemolytic uremic syndrome, atypical, susceptibility to, 6}, MIM# 612926
Mendeliome v0.2145 THBD Zornitza Stark Publications for gene: THBD were set to
Mendeliome v0.2144 THBD Zornitza Stark Mode of inheritance for gene: THBD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2143 THBD Zornitza Stark Classified gene: THBD as Amber List (moderate evidence)
Mendeliome v0.2143 THBD Zornitza Stark Gene: thbd has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2142 THBD Zornitza Stark reviewed gene: THBD: Rating: AMBER; Mode of pathogenicity: None; Publications: 29500241, 19625716; Phenotypes: {Hemolytic uremic syndrome, atypical, susceptibility to, 6}, MIM# 612926; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Complement Deficiencies v0.35 THBD Zornitza Stark Marked gene: THBD as ready
Complement Deficiencies v0.35 THBD Zornitza Stark Gene: thbd has been classified as Red List (Low Evidence).
Complement Deficiencies v0.35 THBD Zornitza Stark Phenotypes for gene: THBD were changed from to {Hemolytic uremic syndrome, atypical, susceptibility to, 6}, MIM# 612926
Complement Deficiencies v0.34 THBD Zornitza Stark Publications for gene: THBD were set to
Complement Deficiencies v0.33 THBD Zornitza Stark Mode of inheritance for gene: THBD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Complement Deficiencies v0.32 THBD Zornitza Stark Classified gene: THBD as Red List (low evidence)
Complement Deficiencies v0.32 THBD Zornitza Stark Gene: thbd has been classified as Red List (Low Evidence).
Complement Deficiencies v0.31 THBD Zornitza Stark reviewed gene: THBD: Rating: RED; Mode of pathogenicity: None; Publications: 29500241, 19625716; Phenotypes: {Hemolytic uremic syndrome, atypical, susceptibility to, 6}, MIM# 612926; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2142 TAPBP Zornitza Stark Marked gene: TAPBP as ready
Mendeliome v0.2142 TAPBP Zornitza Stark Gene: tapbp has been classified as Red List (Low Evidence).
Mendeliome v0.2142 TAPBP Zornitza Stark Phenotypes for gene: TAPBP were changed from to Bare lymphocyte syndrome, type I, MIM# 604571
Mendeliome v0.2141 TAPBP Zornitza Stark Mode of inheritance for gene: TAPBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2140 NXN Zornitza Stark Phenotypes for gene: NXN were changed from to Robinow syndrome, autosomal recessive 2 618529
Mendeliome v0.2139 NXN Zornitza Stark Publications for gene: NXN were set to
Mendeliome v0.2138 NXN Zornitza Stark Mode of inheritance for gene: NXN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2137 NXN Zornitza Stark reviewed gene: NXN: Rating: GREEN; Mode of pathogenicity: None; Publications: 29276006; Phenotypes: Robinow syndrome, autosomal recessive 2 618529; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.141 TERT Zornitza Stark Marked gene: TERT as ready
Combined Immunodeficiency v0.141 TERT Zornitza Stark Gene: tert has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2137 TAPBP Zornitza Stark Publications for gene: TAPBP were set to
Combined Immunodeficiency v0.141 TERT Zornitza Stark Phenotypes for gene: TERT were changed from to {Dyskeratosis congenita, autosomal dominant 2}, MIM# 613989; {Dyskeratosis congenita, autosomal recessive 4}, MIM# 613989
Combined Immunodeficiency v0.140 TERT Zornitza Stark Mode of inheritance for gene: TERT was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Combined Immunodeficiency v0.139 TERT Zornitza Stark Classified gene: TERT as Amber List (moderate evidence)
Combined Immunodeficiency v0.139 TERT Zornitza Stark Gene: tert has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.138 TERT Zornitza Stark reviewed gene: TERT: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: {Dyskeratosis congenita, autosomal dominant 2}, MIM# 613989, {Dyskeratosis congenita, autosomal recessive 4}, MIM# 613989; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Combined Immunodeficiency v0.138 TERC Zornitza Stark Marked gene: TERC as ready
Combined Immunodeficiency v0.138 TERC Zornitza Stark Gene: terc has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.138 TERC Zornitza Stark Phenotypes for gene: TERC were changed from to Dyskeratosis congenita, autosomal dominant 1, MIM# 127550
Combined Immunodeficiency v0.137 TERC Zornitza Stark Mode of inheritance for gene: TERC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Combined Immunodeficiency v0.136 TERC Zornitza Stark Classified gene: TERC as Amber List (moderate evidence)
Combined Immunodeficiency v0.136 TERC Zornitza Stark Gene: terc has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.135 TERC Zornitza Stark reviewed gene: TERC: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyskeratosis congenita, autosomal dominant 1, MIM# 127550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2136 TAPBP Zornitza Stark Classified gene: TAPBP as Red List (low evidence)
Mendeliome v0.2136 TAPBP Zornitza Stark Gene: tapbp has been classified as Red List (Low Evidence).
Mendeliome v0.2136 TAPBP Zornitza Stark Classified gene: TAPBP as Red List (low evidence)
Mendeliome v0.2136 TAPBP Zornitza Stark Gene: tapbp has been classified as Red List (Low Evidence).
Mendeliome v0.2135 TAPBP Zornitza Stark reviewed gene: TAPBP: Rating: RED; Mode of pathogenicity: None; Publications: 12149238; Phenotypes: Bare lymphocyte syndrome, type I, MIM# 604571; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.135 TAPBP Zornitza Stark Tag SV/CNV tag was added to gene: TAPBP.
Combined Immunodeficiency v0.135 TAPBP Zornitza Stark Marked gene: TAPBP as ready
Combined Immunodeficiency v0.135 TAPBP Zornitza Stark Gene: tapbp has been classified as Red List (Low Evidence).
Combined Immunodeficiency v0.135 TAPBP Zornitza Stark Phenotypes for gene: TAPBP were changed from to Bare lymphocyte syndrome, type I, MIM# 604571
Combined Immunodeficiency v0.134 TAPBP Zornitza Stark Publications for gene: TAPBP were set to
Combined Immunodeficiency v0.133 TAPBP Zornitza Stark Mode of inheritance for gene: TAPBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.132 TAPBP Zornitza Stark Classified gene: TAPBP as Red List (low evidence)
Combined Immunodeficiency v0.132 TAPBP Zornitza Stark Gene: tapbp has been classified as Red List (Low Evidence).
Combined Immunodeficiency v0.131 TAPBP Zornitza Stark reviewed gene: TAPBP: Rating: RED; Mode of pathogenicity: None; Publications: 12149238; Phenotypes: Bare lymphocyte syndrome, type I, MIM# 604571; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v0.63 SH3BP2 Zornitza Stark Phenotypes for gene: SH3BP2 were changed from Cherubism, MIM# 118400 to Cherubism, MIM# 118400
Autoinflammatory Disorders v0.63 SH3BP2 Zornitza Stark Marked gene: SH3BP2 as ready
Autoinflammatory Disorders v0.63 SH3BP2 Zornitza Stark Gene: sh3bp2 has been classified as Red List (Low Evidence).
Autoinflammatory Disorders v0.63 SH3BP2 Zornitza Stark Phenotypes for gene: SH3BP2 were changed from Cherubism, MIM# 118400 to Cherubism, MIM# 118400
Autoinflammatory Disorders v0.63 SH3BP2 Zornitza Stark Phenotypes for gene: SH3BP2 were changed from to Cherubism, MIM# 118400
Autoinflammatory Disorders v0.62 SH3BP2 Zornitza Stark Publications for gene: SH3BP2 were set to
Autoinflammatory Disorders v0.61 SH3BP2 Zornitza Stark Mode of inheritance for gene: SH3BP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.60 SH3BP2 Zornitza Stark Classified gene: SH3BP2 as Red List (low evidence)
Autoinflammatory Disorders v0.60 SH3BP2 Zornitza Stark Gene: sh3bp2 has been classified as Red List (Low Evidence).
Autoinflammatory Disorders v0.59 SH3BP2 Zornitza Stark reviewed gene: SH3BP2: Rating: RED; Mode of pathogenicity: None; Publications: 26152156, 25705883, 25470448, 25220465; Phenotypes: Cherubism, MIM# 118400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2135 SEMA3E Zornitza Stark Marked gene: SEMA3E as ready
Mendeliome v0.2135 SEMA3E Zornitza Stark Gene: sema3e has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2135 SEMA3E Zornitza Stark Phenotypes for gene: SEMA3E were changed from to CHARGE syndrome, MIM#214800
Mendeliome v0.2134 SEMA3E Zornitza Stark Publications for gene: SEMA3E were set to
Mendeliome v0.2133 SEMA3E Zornitza Stark Mode of inheritance for gene: SEMA3E was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2133 SEMA3E Zornitza Stark Classified gene: SEMA3E as Amber List (moderate evidence)
Mendeliome v0.2133 SEMA3E Zornitza Stark Gene: sema3e has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2132 SEMA3E Zornitza Stark reviewed gene: SEMA3E: Rating: AMBER; Mode of pathogenicity: None; Publications: 15235037, 31691538, 31464029; Phenotypes: CHARGE syndrome, MIM#214800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Combined Immunodeficiency v0.131 SEMA3E Zornitza Stark Marked gene: SEMA3E as ready
Combined Immunodeficiency v0.131 SEMA3E Zornitza Stark Gene: sema3e has been classified as Red List (Low Evidence).
Combined Immunodeficiency v0.131 SEMA3E Zornitza Stark Phenotypes for gene: SEMA3E were changed from to CHARGE syndrome, MIM# 214800
Combined Immunodeficiency v0.130 SEMA3E Zornitza Stark Publications for gene: SEMA3E were set to
Combined Immunodeficiency v0.129 SEMA3E Zornitza Stark Mode of inheritance for gene: SEMA3E was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Combined Immunodeficiency v0.128 SEMA3E Zornitza Stark Classified gene: SEMA3E as Red List (low evidence)
Combined Immunodeficiency v0.128 SEMA3E Zornitza Stark Gene: sema3e has been classified as Red List (Low Evidence).
Combined Immunodeficiency v0.127 SEMA3E Zornitza Stark reviewed gene: SEMA3E: Rating: RED; Mode of pathogenicity: None; Publications: 15235037, 28634005; Phenotypes: CHARGE syndrome, MIM# 214800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Inflammatory bowel disease v0.24 SAMD9 Zornitza Stark Marked gene: SAMD9 as ready
Inflammatory bowel disease v0.24 SAMD9 Zornitza Stark Gene: samd9 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.24 SAMD9 Zornitza Stark Phenotypes for gene: SAMD9 were changed from to MIRAGE syndrome, MIM# 617053
Inflammatory bowel disease v0.23 SAMD9 Zornitza Stark Publications for gene: SAMD9 were set to
Inflammatory bowel disease v0.22 SAMD9 Zornitza Stark Mode of inheritance for gene: SAMD9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Inflammatory bowel disease v0.21 SAMD9 Zornitza Stark reviewed gene: SAMD9: Rating: GREEN; Mode of pathogenicity: None; Publications: 31620126; Phenotypes: MIRAGE syndrome, MIM# 617053; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2132 RNF31 Zornitza Stark Marked gene: RNF31 as ready
Mendeliome v0.2132 RNF31 Zornitza Stark Gene: rnf31 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2132 RNF31 Zornitza Stark Phenotypes for gene: RNF31 were changed from to Immune deficiency; Autoinflammation
Mendeliome v0.2131 RNF31 Zornitza Stark Publications for gene: RNF31 were set to
Mendeliome v0.2130 RNF31 Zornitza Stark Mode of inheritance for gene: RNF31 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2129 RNF31 Zornitza Stark Classified gene: RNF31 as Amber List (moderate evidence)
Mendeliome v0.2129 RNF31 Zornitza Stark Gene: rnf31 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2128 RNF31 Zornitza Stark reviewed gene: RNF31: Rating: AMBER; Mode of pathogenicity: None; Publications: 26008899, 30936877; Phenotypes: Immune deficiency, Autoinflammation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.127 RNF31 Zornitza Stark Marked gene: RNF31 as ready
Combined Immunodeficiency v0.127 RNF31 Zornitza Stark Gene: rnf31 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.127 RNF31 Zornitza Stark Phenotypes for gene: RNF31 were changed from to Immune deficiency; Autoinflammation
Combined Immunodeficiency v0.126 RNF31 Zornitza Stark Publications for gene: RNF31 were set to
Combined Immunodeficiency v0.125 RNF31 Zornitza Stark Mode of inheritance for gene: RNF31 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.124 RNF31 Zornitza Stark Classified gene: RNF31 as Amber List (moderate evidence)
Combined Immunodeficiency v0.124 RNF31 Zornitza Stark Gene: rnf31 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.123 RNF31 Zornitza Stark reviewed gene: RNF31: Rating: AMBER; Mode of pathogenicity: None; Publications: 26008899, 30936877; Phenotypes: Immune deficiency, Autoinflammation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2128 RHOH Zornitza Stark Marked gene: RHOH as ready
Mendeliome v0.2128 RHOH Zornitza Stark Gene: rhoh has been classified as Red List (Low Evidence).
Mendeliome v0.2128 RHOH Zornitza Stark Phenotypes for gene: RHOH were changed from to {?Epidermodysplasia verruciformis, susceptibility to, 4}, MIM# 618307
Mendeliome v0.2127 RHOH Zornitza Stark Publications for gene: RHOH were set to
Mendeliome v0.2126 RHOH Zornitza Stark Mode of inheritance for gene: RHOH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2125 RHOH Zornitza Stark Classified gene: RHOH as Red List (low evidence)
Mendeliome v0.2125 RHOH Zornitza Stark Gene: rhoh has been classified as Red List (Low Evidence).
Mendeliome v0.2124 RHOH Zornitza Stark reviewed gene: RHOH: Rating: RED; Mode of pathogenicity: None; Publications: 22850876, 27574848; Phenotypes: {?Epidermodysplasia verruciformis, susceptibility to, 4}, MIM# 618307; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.123 RHOH Zornitza Stark Marked gene: RHOH as ready
Combined Immunodeficiency v0.123 RHOH Zornitza Stark Gene: rhoh has been classified as Red List (Low Evidence).
Mendeliome v0.2124 PSMB9 Zornitza Stark Marked gene: PSMB9 as ready
Mendeliome v0.2124 PSMB9 Zornitza Stark Gene: psmb9 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.123 RHOH Zornitza Stark Phenotypes for gene: RHOH were changed from to {?Epidermodysplasia verruciformis, susceptibility to, 4}, MIM# 618307
Combined Immunodeficiency v0.122 RHOH Zornitza Stark Publications for gene: RHOH were set to
Combined Immunodeficiency v0.121 RHOH Zornitza Stark Mode of inheritance for gene: RHOH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.120 RHOH Zornitza Stark Classified gene: RHOH as Red List (low evidence)
Combined Immunodeficiency v0.120 RHOH Zornitza Stark Gene: rhoh has been classified as Red List (Low Evidence).
Combined Immunodeficiency v0.119 RHOH Zornitza Stark reviewed gene: RHOH: Rating: RED; Mode of pathogenicity: None; Publications: 22850876, 27574848; Phenotypes: {?Epidermodysplasia verruciformis, susceptibility to, 4}, MIM# 618307; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.36 RAC2 Zornitza Stark Mode of inheritance for gene: RAC2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.35 RAC2 Zornitza Stark edited their review of gene: RAC2: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Predominantly Antibody Deficiency v0.46 RAC2 Zornitza Stark Mode of inheritance for gene: RAC2 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Inflammatory bowel disease v0.21 PTEN Zornitza Stark reviewed gene: PTEN: Rating: AMBER; Mode of pathogenicity: None; Publications: 23962154, 24882466, 25352295, 22266152; Phenotypes: Colitis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2124 PSMB9 Zornitza Stark Phenotypes for gene: PSMB9 were changed from to Proteasome-associated autoinflammatory syndrome 3, digenic, MIM# 617591
Mendeliome v0.2123 PSMB9 Zornitza Stark Publications for gene: PSMB9 were set to
Mendeliome v0.2122 PSMB9 Zornitza Stark Mode of inheritance for gene: PSMB9 was changed from Unknown to Other
Mendeliome v0.2121 PSMB9 Zornitza Stark Classified gene: PSMB9 as Amber List (moderate evidence)
Mendeliome v0.2121 PSMB9 Zornitza Stark Gene: psmb9 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2120 PSMB9 Zornitza Stark reviewed gene: PSMB9: Rating: AMBER; Mode of pathogenicity: None; Publications: 26524591; Phenotypes: Proteasome-associated autoinflammatory syndrome 3, digenic, MIM# 617591; Mode of inheritance: Other
Autoinflammatory Disorders v0.59 PSMB9 Zornitza Stark Marked gene: PSMB9 as ready
Autoinflammatory Disorders v0.59 PSMB9 Zornitza Stark Gene: psmb9 has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v0.59 PSMB9 Zornitza Stark Phenotypes for gene: PSMB9 were changed from to Proteasome-associated autoinflammatory syndrome 3, digenic, MIM# 617591
Autoinflammatory Disorders v0.58 PSMB9 Zornitza Stark Publications for gene: PSMB9 were set to
Autoinflammatory Disorders v0.57 PSMB9 Zornitza Stark Mode of inheritance for gene: PSMB9 was changed from Unknown to Other
Autoinflammatory Disorders v0.56 PSMB9 Zornitza Stark Classified gene: PSMB9 as Amber List (moderate evidence)
Autoinflammatory Disorders v0.56 PSMB9 Zornitza Stark Gene: psmb9 has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v0.55 PSMB9 Zornitza Stark reviewed gene: PSMB9: Rating: AMBER; Mode of pathogenicity: None; Publications: 26524591; Phenotypes: Proteasome-associated autoinflammatory syndrome 3, digenic, MIM# 617591; Mode of inheritance: Other
Mendeliome v0.2120 PSMB4 Zornitza Stark Marked gene: PSMB4 as ready
Mendeliome v0.2120 PSMB4 Zornitza Stark Gene: psmb4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2120 PSMB4 Zornitza Stark Phenotypes for gene: PSMB4 were changed from to Proteasome-associated autoinflammatory syndrome 3 and digenic forms, MIM# 617591
Mendeliome v0.2119 PSMB4 Zornitza Stark Publications for gene: PSMB4 were set to
Mendeliome v0.2118 PSMB4 Zornitza Stark Mode of inheritance for gene: PSMB4 was changed from Unknown to Other
Mendeliome v0.2117 PSMB4 Zornitza Stark Classified gene: PSMB4 as Amber List (moderate evidence)
Mendeliome v0.2117 PSMB4 Zornitza Stark Gene: psmb4 has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v0.55 PSMB4 Zornitza Stark Marked gene: PSMB4 as ready
Autoinflammatory Disorders v0.55 PSMB4 Zornitza Stark Gene: psmb4 has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v0.55 PSMB4 Zornitza Stark Phenotypes for gene: PSMB4 were changed from to Proteasome-associated autoinflammatory syndrome 3 and digenic forms, MIM# 617591
Autoinflammatory Disorders v0.55 PSMB4 Zornitza Stark Publications for gene: PSMB4 were set to 26524591
Mendeliome v0.2116 PSMB4 Zornitza Stark reviewed gene: PSMB4: Rating: AMBER; Mode of pathogenicity: None; Publications: 26524591; Phenotypes: Proteasome-associated autoinflammatory syndrome 3 and digenic forms, MIM# 617591; Mode of inheritance: Other
Autoinflammatory Disorders v0.54 PSMB4 Zornitza Stark Publications for gene: PSMB4 were set to
Autoinflammatory Disorders v0.54 PSMB4 Zornitza Stark Mode of inheritance for gene: PSMB4 was changed from Unknown to Other
Autoinflammatory Disorders v0.53 PSMB4 Zornitza Stark Classified gene: PSMB4 as Amber List (moderate evidence)
Autoinflammatory Disorders v0.53 PSMB4 Zornitza Stark Gene: psmb4 has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v0.52 PSMB4 Zornitza Stark reviewed gene: PSMB4: Rating: AMBER; Mode of pathogenicity: None; Publications: 26524591; Phenotypes: Proteasome-associated autoinflammatory syndrome 3 and digenic forms, MIM# 617591; Mode of inheritance: Other
Mendeliome v0.2116 PSMA3 Zornitza Stark Marked gene: PSMA3 as ready
Mendeliome v0.2116 PSMA3 Zornitza Stark Gene: psma3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2116 PSMA3 Zornitza Stark Publications for gene: PSMA3 were set to
Mendeliome v0.2115 PSMA3 Zornitza Stark Phenotypes for gene: PSMA3 were changed from to Proteasome-associated autoinflammatory syndrome 1 and digenic forms, MIM#256040
Mendeliome v0.2114 PSMA3 Zornitza Stark Mode of inheritance for gene: PSMA3 was changed from Unknown to Other
Mendeliome v0.2113 PSMA3 Zornitza Stark Classified gene: PSMA3 as Amber List (moderate evidence)
Mendeliome v0.2113 PSMA3 Zornitza Stark Gene: psma3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2112 PSMA3 Zornitza Stark reviewed gene: PSMA3: Rating: AMBER; Mode of pathogenicity: None; Publications: 26524591; Phenotypes: Proteasome-associated autoinflammatory syndrome 1 and digenic forms, MIM#256040; Mode of inheritance: Other
Autoinflammatory Disorders v0.52 PSMA3 Zornitza Stark Marked gene: PSMA3 as ready
Autoinflammatory Disorders v0.52 PSMA3 Zornitza Stark Gene: psma3 has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v0.52 PSMA3 Zornitza Stark Phenotypes for gene: PSMA3 were changed from to Proteasome-associated autoinflammatory syndrome 1 and digenic forms, MIM#256040
Autoinflammatory Disorders v0.51 PSMA3 Zornitza Stark Publications for gene: PSMA3 were set to
Autoinflammatory Disorders v0.50 PSMA3 Zornitza Stark Mode of inheritance for gene: PSMA3 was changed from Unknown to Other
Autoinflammatory Disorders v0.49 PSMA3 Zornitza Stark Classified gene: PSMA3 as Amber List (moderate evidence)
Autoinflammatory Disorders v0.49 PSMA3 Zornitza Stark Gene: psma3 has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v0.48 PSMA3 Zornitza Stark reviewed gene: PSMA3: Rating: AMBER; Mode of pathogenicity: None; Publications: 26524591; Phenotypes: Proteasome-associated autoinflammatory syndrome 1 and digenic forms, MIM#256040; Mode of inheritance: Other
Disorders of immune dysregulation v0.56 POMP Zornitza Stark Marked gene: POMP as ready
Disorders of immune dysregulation v0.56 POMP Zornitza Stark Gene: pomp has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.56 POMP Zornitza Stark Classified gene: POMP as Green List (high evidence)
Disorders of immune dysregulation v0.56 POMP Zornitza Stark Gene: pomp has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.55 POMP Zornitza Stark gene: POMP was added
gene: POMP was added to Disorders of immune dysregulation. Sources: Expert list
Mode of inheritance for gene: POMP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POMP were set to 29805043
Phenotypes for gene: POMP were set to Combined immunodeficiency; Autoinflammation
Review for gene: POMP was set to GREEN
Added comment: Two unrelated individuals, functional data. Truncating variants in penultimate exon, escape NMD, postulated to act through a dominant negative mechanism.
Sources: Expert list
Combined Immunodeficiency v0.119 POLE Zornitza Stark Marked gene: POLE as ready
Combined Immunodeficiency v0.119 POLE Zornitza Stark Gene: pole has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.119 POLE Zornitza Stark Phenotypes for gene: POLE were changed from to FILS syndrome, MIM# 615139; IMAGE-I syndrome, MIM# 618336
Combined Immunodeficiency v0.118 POLE Zornitza Stark Publications for gene: POLE were set to
Combined Immunodeficiency v0.117 POLE Zornitza Stark Tag deep intronic tag was added to gene: POLE.
Combined Immunodeficiency v0.117 POLE Zornitza Stark Mode of inheritance for gene: POLE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.116 POLE Zornitza Stark reviewed gene: POLE: Rating: GREEN; Mode of pathogenicity: None; Publications: 30503519, 23230001, 25948378; Phenotypes: FILS syndrome, MIM# 615139, IMAGE-I syndrome, MIM# 618336; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.120 PMS2 Zornitza Stark Marked gene: PMS2 as ready
Callosome v0.120 PMS2 Zornitza Stark Gene: pms2 has been classified as Amber List (Moderate Evidence).
Callosome v0.120 PMS2 Zornitza Stark Phenotypes for gene: PMS2 were changed from to Mismatch repair cancer syndrome, MIM# 276300
Callosome v0.119 PMS2 Zornitza Stark Publications for gene: PMS2 were set to
Callosome v0.118 PMS2 Zornitza Stark Mode of inheritance for gene: PMS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.117 PMS2 Zornitza Stark Classified gene: PMS2 as Amber List (moderate evidence)
Callosome v0.117 PMS2 Zornitza Stark Gene: pms2 has been classified as Amber List (Moderate Evidence).
Callosome v0.116 PMS2 Zornitza Stark reviewed gene: PMS2: Rating: AMBER; Mode of pathogenicity: None; Publications: 22692065; Phenotypes: Mismatch repair cancer syndrome, MIM# 276300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.116 PMS2 Zornitza Stark Classified gene: PMS2 as Amber List (moderate evidence)
Combined Immunodeficiency v0.116 PMS2 Zornitza Stark Gene: pms2 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.115 PMS2 Zornitza Stark changed review comment from: Sources: Expert list; to: Immunodeficiency is a rare manifestation of CMMRD. Sources: Expert list
Combined Immunodeficiency v0.115 PMS2 Zornitza Stark edited their review of gene: PMS2: Changed rating: AMBER
Predominantly Antibody Deficiency v0.45 NFKBID Zornitza Stark Marked gene: NFKBID as ready
Predominantly Antibody Deficiency v0.45 NFKBID Zornitza Stark Gene: nfkbid has been classified as Red List (Low Evidence).
Predominantly Antibody Deficiency v0.45 NFKBID Zornitza Stark Publications for gene: NFKBID were set to
Predominantly Antibody Deficiency v0.44 NFKBID Zornitza Stark Classified gene: NFKBID as Red List (low evidence)
Predominantly Antibody Deficiency v0.44 NFKBID Zornitza Stark Gene: nfkbid has been classified as Red List (Low Evidence).
Predominantly Antibody Deficiency v0.43 NFKBID Zornitza Stark reviewed gene: NFKBID: Rating: RED; Mode of pathogenicity: None; Publications: 26973645, 25347393, 22761313; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.2112 NFKBID Zornitza Stark Marked gene: NFKBID as ready
Mendeliome v0.2112 NFKBID Zornitza Stark Gene: nfkbid has been classified as Red List (Low Evidence).
Mendeliome v0.2112 NFKBID Zornitza Stark Publications for gene: NFKBID were set to
Mendeliome v0.2111 NFKBID Zornitza Stark Classified gene: NFKBID as Red List (low evidence)
Mendeliome v0.2111 NFKBID Zornitza Stark Gene: nfkbid has been classified as Red List (Low Evidence).
Mendeliome v0.2110 NFKBID Zornitza Stark reviewed gene: NFKBID: Rating: RED; Mode of pathogenicity: None; Publications: 26973645, 25347393, 22761313; Phenotypes: ; Mode of inheritance: None
Combined Immunodeficiency v0.115 NFKBID Zornitza Stark Marked gene: NFKBID as ready
Combined Immunodeficiency v0.115 NFKBID Zornitza Stark Gene: nfkbid has been classified as Red List (Low Evidence).
Combined Immunodeficiency v0.115 NFKBID Zornitza Stark Publications for gene: NFKBID were set to
Combined Immunodeficiency v0.114 NFKBID Zornitza Stark Classified gene: NFKBID as Red List (low evidence)
Combined Immunodeficiency v0.114 NFKBID Zornitza Stark Gene: nfkbid has been classified as Red List (Low Evidence).
Combined Immunodeficiency v0.113 NFKBID Zornitza Stark reviewed gene: NFKBID: Rating: RED; Mode of pathogenicity: None; Publications: 26973645, 25347393, 22761313; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.2110 NFAT5 Zornitza Stark Marked gene: NFAT5 as ready
Mendeliome v0.2110 NFAT5 Zornitza Stark Gene: nfat5 has been classified as Red List (Low Evidence).
Mendeliome v0.2110 NFAT5 Zornitza Stark Phenotypes for gene: NFAT5 were changed from to Recurrent infections; Autoimmune enterocolopathy
Mendeliome v0.2109 NFAT5 Zornitza Stark Publications for gene: NFAT5 were set to
Mendeliome v0.2108 NFAT5 Zornitza Stark Mode of inheritance for gene: NFAT5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2107 NFAT5 Zornitza Stark Classified gene: NFAT5 as Red List (low evidence)
Mendeliome v0.2107 NFAT5 Zornitza Stark Gene: nfat5 has been classified as Red List (Low Evidence).
Mendeliome v0.2106 NFAT5 Zornitza Stark reviewed gene: NFAT5: Rating: RED; Mode of pathogenicity: None; Publications: 25667416; Phenotypes: Recurrent infections, Autoimmune enterocolopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Disorders of immune dysregulation v0.54 NFAT5 Zornitza Stark Marked gene: NFAT5 as ready
Disorders of immune dysregulation v0.54 NFAT5 Zornitza Stark Gene: nfat5 has been classified as Red List (Low Evidence).
Disorders of immune dysregulation v0.54 NFAT5 Zornitza Stark Phenotypes for gene: NFAT5 were changed from to Recurrent infections; Autoimmune enterocolopathy
Disorders of immune dysregulation v0.53 NFAT5 Zornitza Stark Publications for gene: NFAT5 were set to 25667416
Disorders of immune dysregulation v0.53 NFAT5 Zornitza Stark Publications for gene: NFAT5 were set to
Disorders of immune dysregulation v0.52 NFAT5 Zornitza Stark Mode of inheritance for gene: NFAT5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Disorders of immune dysregulation v0.51 NFAT5 Zornitza Stark Classified gene: NFAT5 as Red List (low evidence)
Disorders of immune dysregulation v0.51 NFAT5 Zornitza Stark Gene: nfat5 has been classified as Red List (Low Evidence).
Disorders of immune dysregulation v0.50 NFAT5 Zornitza Stark reviewed gene: NFAT5: Rating: RED; Mode of pathogenicity: None; Publications: 25667416; Phenotypes: Recurrent infections, Autoimmune enterocolopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2106 MS4A1 Zornitza Stark Marked gene: MS4A1 as ready
Mendeliome v0.2106 MS4A1 Zornitza Stark Gene: ms4a1 has been classified as Red List (Low Evidence).
Mendeliome v0.2106 MS4A1 Zornitza Stark Phenotypes for gene: MS4A1 were changed from to Immunodeficiency, common variable, 5, MIM# 613495
Mendeliome v0.2105 MS4A1 Zornitza Stark Publications for gene: MS4A1 were set to
Mendeliome v0.2104 MS4A1 Zornitza Stark Mode of inheritance for gene: MS4A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2103 MS4A1 Zornitza Stark Classified gene: MS4A1 as Red List (low evidence)
Mendeliome v0.2103 MS4A1 Zornitza Stark Gene: ms4a1 has been classified as Red List (Low Evidence).
Mendeliome v0.2103 MS4A1 Zornitza Stark Classified gene: MS4A1 as Red List (low evidence)
Mendeliome v0.2103 MS4A1 Zornitza Stark Gene: ms4a1 has been classified as Red List (Low Evidence).
Mendeliome v0.2102 MS4A1 Zornitza Stark reviewed gene: MS4A1: Rating: RED; Mode of pathogenicity: None; Publications: 20038800; Phenotypes: Immunodeficiency, common variable, 5, MIM# 613495; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Predominantly Antibody Deficiency v0.43 MS4A1 Zornitza Stark Marked gene: MS4A1 as ready
Predominantly Antibody Deficiency v0.43 MS4A1 Zornitza Stark Gene: ms4a1 has been classified as Red List (Low Evidence).
Predominantly Antibody Deficiency v0.43 MS4A1 Zornitza Stark Phenotypes for gene: MS4A1 were changed from to Immunodeficiency, common variable, 5, MIM# 613495
Predominantly Antibody Deficiency v0.42 MS4A1 Zornitza Stark Publications for gene: MS4A1 were set to
Predominantly Antibody Deficiency v0.41 MS4A1 Zornitza Stark Mode of inheritance for gene: MS4A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Predominantly Antibody Deficiency v0.40 MS4A1 Zornitza Stark Classified gene: MS4A1 as Red List (low evidence)
Predominantly Antibody Deficiency v0.40 MS4A1 Zornitza Stark Gene: ms4a1 has been classified as Red List (Low Evidence).
Predominantly Antibody Deficiency v0.39 MS4A1 Zornitza Stark reviewed gene: MS4A1: Rating: RED; Mode of pathogenicity: None; Publications: 20038800; Phenotypes: Immunodeficiency, common variable, 5, MIM# 613495; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2102 MASP2 Zornitza Stark Marked gene: MASP2 as ready
Mendeliome v0.2102 MASP2 Zornitza Stark Gene: masp2 has been classified as Red List (Low Evidence).
Mendeliome v0.2102 MASP2 Zornitza Stark Phenotypes for gene: MASP2 were changed from to MASP2 deficiency, MIM# 613791
Mendeliome v0.2101 MASP2 Zornitza Stark Mode of inheritance for gene: MASP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2100 MASP2 Zornitza Stark Classified gene: MASP2 as Red List (low evidence)
Mendeliome v0.2100 MASP2 Zornitza Stark Gene: masp2 has been classified as Red List (Low Evidence).
Mendeliome v0.2099 MASP2 Zornitza Stark reviewed gene: MASP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: MASP2 deficiency, MIM# 613791; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.31 MASP2 Zornitza Stark Marked gene: MASP2 as ready
Complement Deficiencies v0.31 MASP2 Zornitza Stark Gene: masp2 has been classified as Red List (Low Evidence).
Complement Deficiencies v0.31 MASP2 Zornitza Stark Phenotypes for gene: MASP2 were changed from to MASP2 deficiency, MIM# 613791
Complement Deficiencies v0.30 MASP2 Zornitza Stark Mode of inheritance for gene: MASP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.29 MASP2 Zornitza Stark Classified gene: MASP2 as Red List (low evidence)
Complement Deficiencies v0.29 MASP2 Zornitza Stark Gene: masp2 has been classified as Red List (Low Evidence).
Complement Deficiencies v0.28 MASP2 Zornitza Stark reviewed gene: MASP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: MASP2 deficiency, MIM# 613791; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2099 ITGAM Zornitza Stark Marked gene: ITGAM as ready
Mendeliome v0.2099 ITGAM Zornitza Stark Gene: itgam has been classified as Red List (Low Evidence).
Mendeliome v0.2099 ITGAM Zornitza Stark Classified gene: ITGAM as Red List (low evidence)
Mendeliome v0.2099 ITGAM Zornitza Stark Gene: itgam has been classified as Red List (Low Evidence).
Mendeliome v0.2098 ITGAM Zornitza Stark reviewed gene: ITGAM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Complement Deficiencies v0.28 ITGAM Zornitza Stark Marked gene: ITGAM as ready
Complement Deficiencies v0.28 ITGAM Zornitza Stark Gene: itgam has been classified as Red List (Low Evidence).
Complement Deficiencies v0.28 ITGAM Zornitza Stark Classified gene: ITGAM as Red List (low evidence)
Complement Deficiencies v0.28 ITGAM Zornitza Stark Gene: itgam has been classified as Red List (Low Evidence).
Complement Deficiencies v0.27 ITGAM Zornitza Stark reviewed gene: ITGAM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.2098 IRF7 Zornitza Stark Marked gene: IRF7 as ready
Mendeliome v0.2098 IRF7 Zornitza Stark Gene: irf7 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2098 IRF7 Zornitza Stark Phenotypes for gene: IRF7 were changed from to Immunodeficiency 39, MIM# 616345
Mendeliome v0.2097 IRF7 Zornitza Stark Publications for gene: IRF7 were set to
Mendeliome v0.2096 IRF7 Zornitza Stark Mode of inheritance for gene: IRF7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2095 IRF7 Zornitza Stark Classified gene: IRF7 as Amber List (moderate evidence)
Mendeliome v0.2095 IRF7 Zornitza Stark Gene: irf7 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2094 IRF7 Zornitza Stark reviewed gene: IRF7: Rating: AMBER; Mode of pathogenicity: None; Publications: 25814066, 15800576; Phenotypes: Immunodeficiency 39, MIM# 616345; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Susceptibility to Viral Infections v0.30 IRF7 Zornitza Stark Marked gene: IRF7 as ready
Susceptibility to Viral Infections v0.30 IRF7 Zornitza Stark Gene: irf7 has been classified as Amber List (Moderate Evidence).
Susceptibility to Viral Infections v0.30 IRF7 Zornitza Stark Phenotypes for gene: IRF7 were changed from to Immunodeficiency 39, MIM# 616345
Susceptibility to Viral Infections v0.29 IRF7 Zornitza Stark Publications for gene: IRF7 were set to
Susceptibility to Viral Infections v0.28 IRF7 Zornitza Stark Mode of inheritance for gene: IRF7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.33 IRF7 Zornitza Stark Marked gene: IRF7 as ready
Defects of intrinsic and innate immunity v0.33 IRF7 Zornitza Stark Gene: irf7 has been classified as Amber List (Moderate Evidence).
Defects of intrinsic and innate immunity v0.33 IRF7 Zornitza Stark Phenotypes for gene: IRF7 were changed from to Immunodeficiency 39, MIM# 616345
Susceptibility to Viral Infections v0.27 IRF7 Zornitza Stark Classified gene: IRF7 as Amber List (moderate evidence)
Susceptibility to Viral Infections v0.27 IRF7 Zornitza Stark Gene: irf7 has been classified as Amber List (Moderate Evidence).
Susceptibility to Viral Infections v0.26 IRF7 Zornitza Stark reviewed gene: IRF7: Rating: AMBER; Mode of pathogenicity: None; Publications: 25814066, 15800576; Phenotypes: Immunodeficiency 39, MIM# 616345; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.32 IRF7 Zornitza Stark Publications for gene: IRF7 were set to
Defects of intrinsic and innate immunity v0.31 IRF7 Zornitza Stark Mode of inheritance for gene: IRF7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.30 IRF7 Zornitza Stark Classified gene: IRF7 as Amber List (moderate evidence)
Defects of intrinsic and innate immunity v0.30 IRF7 Zornitza Stark Gene: irf7 has been classified as Amber List (Moderate Evidence).
Defects of intrinsic and innate immunity v0.29 IRF7 Zornitza Stark reviewed gene: IRF7: Rating: AMBER; Mode of pathogenicity: None; Publications: 25814066, 15800576; Phenotypes: Immunodeficiency 39, MIM# 616345; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dilated Cardiomyopathy v0.28 DMD Zornitza Stark Marked gene: DMD as ready
Dilated Cardiomyopathy v0.28 DMD Zornitza Stark Gene: dmd has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.28 DMD Zornitza Stark Phenotypes for gene: DMD were changed from to Cardiomyopathy, dilated, 3B (MIM#302045)
Dilated Cardiomyopathy v0.27 DMD Zornitza Stark Publications for gene: DMD were set to
Dilated Cardiomyopathy v0.26 DMD Zornitza Stark Mode of inheritance for gene: DMD was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Cutis Laxa v0.0 PTDSS1 Bryony Thompson gene: PTDSS1 was added
gene: PTDSS1 was added to Cutis Laxa. Sources: Expert Review Green,GeneReviews
Mode of inheritance for gene: PTDSS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PTDSS1 were set to Lenz-Majewski hyperostotic dwarfism MIM#151050
Cutis Laxa v0.0 SLC2A10 Bryony Thompson gene: SLC2A10 was added
gene: SLC2A10 was added to Cutis Laxa. Sources: Expert Review Green,GeneReviews
Mode of inheritance for gene: SLC2A10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC2A10 were set to Arterial tortuosity syndrome MIM#208050
Cutis Laxa v0.0 RIN2 Bryony Thompson gene: RIN2 was added
gene: RIN2 was added to Cutis Laxa. Sources: Expert Review Green,GeneReviews
Mode of inheritance for gene: RIN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RIN2 were set to Macrocephaly, alopecia, cutis laxa, and scoliosis MIM#613075
Cutis Laxa v0.0 GORAB Bryony Thompson gene: GORAB was added
gene: GORAB was added to Cutis Laxa. Sources: Expert Review Green,GeneReviews
Mode of inheritance for gene: GORAB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GORAB were set to Geroderma osteodysplasticum MIM#231070
Cutis Laxa v0.0 PYCR1 Bryony Thompson gene: PYCR1 was added
gene: PYCR1 was added to Cutis Laxa. Sources: Expert Review Green,GeneReviews
Mode of inheritance for gene: PYCR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PYCR1 were set to Cutis laxa, autosomal recessive, type IIB MIM#612940; Cutis laxa, autosomal recessive, type IIIB MIM#614438
Cutis Laxa v0.0 LTBP4 Bryony Thompson gene: LTBP4 was added
gene: LTBP4 was added to Cutis Laxa. Sources: Expert Review Green,GeneReviews
Mode of inheritance for gene: LTBP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LTBP4 were set to Cutis laxa, autosomal recessive, type IC MIM#613177
Cutis Laxa v0.0 FBLN5 Bryony Thompson gene: FBLN5 was added
gene: FBLN5 was added to Cutis Laxa. Sources: Expert Review Green,GeneReviews
Mode of inheritance for gene: FBLN5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: FBLN5 were set to Cutis laxa, autosomal recessive, type IA MIM#219100; ?Cutis laxa, autosomal dominant 2 MIM#614434
Cutis Laxa v0.0 ELN Bryony Thompson gene: ELN was added
gene: ELN was added to Cutis Laxa. Sources: Expert Review Green,GeneReviews
Mode of inheritance for gene: ELN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ELN were set to Cutis laxa, autosomal dominant MIM#123700
Cutis Laxa v0.0 EFEMP2 Bryony Thompson gene: EFEMP2 was added
gene: EFEMP2 was added to Cutis Laxa. Sources: Expert Review Green,GeneReviews
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 MIM#614437
Cutis Laxa v0.0 ATP7A Bryony Thompson gene: ATP7A was added
gene: ATP7A was added to Cutis Laxa. Sources: Expert Review Green,GeneReviews
Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ATP7A were set to Occipital horn syndrome MIM#304150
Cutis Laxa v0.0 ATP6V0A2 Bryony Thompson gene: ATP6V0A2 was added
gene: ATP6V0A2 was added to Cutis Laxa. Sources: Expert Review Green,GeneReviews
Mode of inheritance for gene: ATP6V0A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP6V0A2 were set to Cutis laxa, autosomal recessive, type IIA MIM#219200; Wrinkly skin syndrome MIM#278250
Cutis Laxa v0.0 ALDH18A1 Bryony Thompson gene: ALDH18A1 was added
gene: ALDH18A1 was added to Cutis Laxa. Sources: Expert Review Green,GeneReviews
Mode of inheritance for gene: ALDH18A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH18A1 were set to Cutis laxa, autosomal recessive, type IIIA MIM#219150
Cutis Laxa v0.0 Bryony Thompson Added panel Cutis Laxa
Mendeliome v0.2094 IL21 Zornitza Stark Marked gene: IL21 as ready
Mendeliome v0.2094 IL21 Zornitza Stark Gene: il21 has been classified as Red List (Low Evidence).
Combined Immunodeficiency v0.113 IL21 Zornitza Stark Marked gene: IL21 as ready
Combined Immunodeficiency v0.113 IL21 Zornitza Stark Gene: il21 has been classified as Red List (Low Evidence).
Combined Immunodeficiency v0.113 IL21 Zornitza Stark Phenotypes for gene: IL21 were changed from to Immunodeficiency, common variable, 11, MIM# 615767
Mendeliome v0.2094 IL21 Zornitza Stark Phenotypes for gene: IL21 were changed from to Immunodeficiency, common variable, 11, MIM# 615767
Mendeliome v0.2093 IL21 Zornitza Stark Publications for gene: IL21 were set to
Mendeliome v0.2092 IL21 Zornitza Stark Mode of inheritance for gene: IL21 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2091 IL21 Zornitza Stark Classified gene: IL21 as Red List (low evidence)
Mendeliome v0.2091 IL21 Zornitza Stark Gene: il21 has been classified as Red List (Low Evidence).
Combined Immunodeficiency v0.112 IL21 Zornitza Stark Publications for gene: IL21 were set to
Mendeliome v0.2090 IL21 Zornitza Stark reviewed gene: IL21: Rating: RED; Mode of pathogenicity: None; Publications: 24746753; Phenotypes: Immunodeficiency, common variable, 11, MIM# 615767; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.111 IL21 Zornitza Stark Mode of inheritance for gene: IL21 was changed from Unknown to Unknown
Combined Immunodeficiency v0.110 IL21 Zornitza Stark Classified gene: IL21 as Red List (low evidence)
Combined Immunodeficiency v0.110 IL21 Zornitza Stark Gene: il21 has been classified as Red List (Low Evidence).
Combined Immunodeficiency v0.109 IL21 Zornitza Stark reviewed gene: IL21: Rating: RED; Mode of pathogenicity: None; Publications: 24746753; Phenotypes: Immunodeficiency, common variable, 11, MIM# 615767; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2090 IL17F Zornitza Stark Marked gene: IL17F as ready
Mendeliome v0.2090 IL17F Zornitza Stark Gene: il17f has been classified as Red List (Low Evidence).
Mendeliome v0.2090 IL17F Zornitza Stark Phenotypes for gene: IL17F were changed from to Candidiasis, familial, 6, autosomal dominant, MIM# 613956
Mendeliome v0.2089 IL17F Zornitza Stark Publications for gene: IL17F were set to
Mendeliome v0.2088 IL17F Zornitza Stark Mode of inheritance for gene: IL17F was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2087 IL17F Zornitza Stark Classified gene: IL17F as Red List (low evidence)
Mendeliome v0.2087 IL17F Zornitza Stark Gene: il17f has been classified as Red List (Low Evidence).
Mendeliome v0.2086 IL17F Zornitza Stark reviewed gene: IL17F: Rating: RED; Mode of pathogenicity: None; Publications: 21350122; Phenotypes: Candidiasis, familial, 6, autosomal dominant, MIM# 613956; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Defects of intrinsic and innate immunity v0.29 IL17F Zornitza Stark Phenotypes for gene: IL17F were changed from to Candidiasis, familial, 6, autosomal dominant, MIM# 613956
Defects of intrinsic and innate immunity v0.28 IL17F Zornitza Stark Publications for gene: IL17F were set to
Defects of intrinsic and innate immunity v0.27 IL17F Zornitza Stark Mode of inheritance for gene: IL17F was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Defects of intrinsic and innate immunity v0.26 IL17F Zornitza Stark Classified gene: IL17F as Red List (low evidence)
Defects of intrinsic and innate immunity v0.26 IL17F Zornitza Stark Gene: il17f has been classified as Red List (Low Evidence).
Defects of intrinsic and innate immunity v0.25 IL17F Zornitza Stark reviewed gene: IL17F: Rating: RED; Mode of pathogenicity: None; Publications: 21350122; Phenotypes: Candidiasis, familial, 6, autosomal dominant, MIM# 613956; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phagocyte Defects v0.35 FPR1 Zornitza Stark Marked gene: FPR1 as ready
Phagocyte Defects v0.35 FPR1 Zornitza Stark Gene: fpr1 has been classified as Red List (Low Evidence).
Phagocyte Defects v0.35 FPR1 Zornitza Stark Phenotypes for gene: FPR1 were changed from to Periodontitis
Phagocyte Defects v0.34 FPR1 Zornitza Stark Publications for gene: FPR1 were set to
Phagocyte Defects v0.33 FPR1 Zornitza Stark Classified gene: FPR1 as Red List (low evidence)
Phagocyte Defects v0.33 FPR1 Zornitza Stark Gene: fpr1 has been classified as Red List (Low Evidence).
Phagocyte Defects v0.32 FPR1 Zornitza Stark reviewed gene: FPR1: Rating: RED; Mode of pathogenicity: None; Publications: 29105764, 28371599; Phenotypes: Periodontitis; Mode of inheritance: None
Mendeliome v0.2086 FPR1 Zornitza Stark Marked gene: FPR1 as ready
Mendeliome v0.2086 FPR1 Zornitza Stark Gene: fpr1 has been classified as Red List (Low Evidence).
Mendeliome v0.2086 FPR1 Zornitza Stark Phenotypes for gene: FPR1 were changed from to Periodontitis
Mendeliome v0.2085 FPR1 Zornitza Stark Publications for gene: FPR1 were set to
Mendeliome v0.2084 FPR1 Zornitza Stark Classified gene: FPR1 as Red List (low evidence)
Mendeliome v0.2084 FPR1 Zornitza Stark Gene: fpr1 has been classified as Red List (Low Evidence).
Mendeliome v0.2083 FPR1 Zornitza Stark reviewed gene: FPR1: Rating: RED; Mode of pathogenicity: None; Publications: 29105764, 28371599; Phenotypes: Periodontitis; Mode of inheritance: None
Mendeliome v0.2083 FCN3 Zornitza Stark Marked gene: FCN3 as ready
Mendeliome v0.2083 FCN3 Zornitza Stark Gene: fcn3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2083 FCN3 Zornitza Stark Phenotypes for gene: FCN3 were changed from to Immunodeficiency due to ficolin 3 deficiency, MIM# 613860
Mendeliome v0.2082 FCN3 Zornitza Stark Publications for gene: FCN3 were set to
Mendeliome v0.2081 FCN3 Zornitza Stark Mode of inheritance for gene: FCN3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2080 FCN3 Zornitza Stark Classified gene: FCN3 as Amber List (moderate evidence)
Mendeliome v0.2080 FCN3 Zornitza Stark Gene: fcn3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2079 FCN3 Zornitza Stark reviewed gene: FCN3: Rating: AMBER; Mode of pathogenicity: None; Publications: 25662573, 22226667, 19535802, 20971976; Phenotypes: Immunodeficiency due to ficolin 3 deficiency, MIM# 613860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.27 FCN3 Zornitza Stark Marked gene: FCN3 as ready
Complement Deficiencies v0.27 FCN3 Zornitza Stark Gene: fcn3 has been classified as Amber List (Moderate Evidence).
Complement Deficiencies v0.27 FCN3 Zornitza Stark Phenotypes for gene: FCN3 were changed from to Immunodeficiency due to ficolin 3 deficiency, MIM# 613860
Complement Deficiencies v0.26 FCN3 Zornitza Stark Publications for gene: FCN3 were set to
Complement Deficiencies v0.25 FCN3 Zornitza Stark Mode of inheritance for gene: FCN3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.24 FCN3 Zornitza Stark Classified gene: FCN3 as Amber List (moderate evidence)
Complement Deficiencies v0.24 FCN3 Zornitza Stark Gene: fcn3 has been classified as Amber List (Moderate Evidence).
Complement Deficiencies v0.23 FCN3 Zornitza Stark reviewed gene: FCN3: Rating: AMBER; Mode of pathogenicity: None; Publications: 25662573, 22226667, 19535802, 20971976; Phenotypes: Immunodeficiency due to ficolin 3 deficiency, MIM# 613860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2079 FCGR3A Zornitza Stark Marked gene: FCGR3A as ready
Mendeliome v0.2079 FCGR3A Zornitza Stark Gene: fcgr3a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2079 FCGR3A Zornitza Stark Phenotypes for gene: FCGR3A were changed from to Immunodeficiency 20, MIM# 615707
Mendeliome v0.2078 FCGR3A Zornitza Stark Publications for gene: FCGR3A were set to
Mendeliome v0.2077 FCGR3A Zornitza Stark Mode of inheritance for gene: FCGR3A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2076 FCGR3A Zornitza Stark Classified gene: FCGR3A as Amber List (moderate evidence)
Mendeliome v0.2076 FCGR3A Zornitza Stark Gene: fcgr3a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2075 FCGR3A Zornitza Stark reviewed gene: FCGR3A: Rating: AMBER; Mode of pathogenicity: None; Publications: 8874200, 23006327, 8608639; Phenotypes: Immunodeficiency 20, MIM# 615707; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Susceptibility to Viral Infections v0.26 FCGR3A Zornitza Stark Marked gene: FCGR3A as ready
Susceptibility to Viral Infections v0.26 FCGR3A Zornitza Stark Gene: fcgr3a has been classified as Amber List (Moderate Evidence).
Susceptibility to Viral Infections v0.26 FCGR3A Zornitza Stark Phenotypes for gene: FCGR3A were changed from to Immunodeficiency 20, MIM# 615707
Susceptibility to Viral Infections v0.25 FCGR3A Zornitza Stark Publications for gene: FCGR3A were set to
Susceptibility to Viral Infections v0.24 FCGR3A Zornitza Stark Mode of inheritance for gene: FCGR3A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Susceptibility to Viral Infections v0.23 FCGR3A Zornitza Stark Classified gene: FCGR3A as Amber List (moderate evidence)
Susceptibility to Viral Infections v0.23 FCGR3A Zornitza Stark Gene: fcgr3a has been classified as Amber List (Moderate Evidence).
Susceptibility to Viral Infections v0.22 FCGR3A Zornitza Stark reviewed gene: FCGR3A: Rating: AMBER; Mode of pathogenicity: None; Publications: 8874200, 23006327, 8608639; Phenotypes: Immunodeficiency 20, MIM# 615707; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.25 FCGR3A Zornitza Stark Marked gene: FCGR3A as ready
Defects of intrinsic and innate immunity v0.25 FCGR3A Zornitza Stark Gene: fcgr3a has been classified as Amber List (Moderate Evidence).
Defects of intrinsic and innate immunity v0.25 FCGR3A Zornitza Stark Phenotypes for gene: FCGR3A were changed from to Immunodeficiency 20, MIM# 615707
Defects of intrinsic and innate immunity v0.24 FCGR3A Zornitza Stark Publications for gene: FCGR3A were set to
Defects of intrinsic and innate immunity v0.23 FCGR3A Zornitza Stark Mode of inheritance for gene: FCGR3A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.22 FCGR3A Zornitza Stark Classified gene: FCGR3A as Amber List (moderate evidence)
Defects of intrinsic and innate immunity v0.22 FCGR3A Zornitza Stark Gene: fcgr3a has been classified as Amber List (Moderate Evidence).
Defects of intrinsic and innate immunity v0.21 FCGR3A Zornitza Stark reviewed gene: FCGR3A: Rating: AMBER; Mode of pathogenicity: None; Publications: 8874200, 23006327, 8608639; Phenotypes: Immunodeficiency 20, MIM# 615707; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Inflammatory bowel disease v0.21 EPCAM Zornitza Stark Marked gene: EPCAM as ready
Inflammatory bowel disease v0.21 EPCAM Zornitza Stark Gene: epcam has been classified as Amber List (Moderate Evidence).
Inflammatory bowel disease v0.21 EPCAM Zornitza Stark Phenotypes for gene: EPCAM were changed from to Diarrhea 5, with tufting enteropathy, congenital, MIM# 613217
Inflammatory bowel disease v0.20 EPCAM Zornitza Stark Publications for gene: EPCAM were set to
Inflammatory bowel disease v0.19 EPCAM Zornitza Stark Mode of inheritance for gene: EPCAM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Inflammatory bowel disease v0.18 EPCAM Zornitza Stark Classified gene: EPCAM as Amber List (moderate evidence)
Inflammatory bowel disease v0.18 EPCAM Zornitza Stark Gene: epcam has been classified as Amber List (Moderate Evidence).
Inflammatory bowel disease v0.17 EPCAM Zornitza Stark reviewed gene: EPCAM: Rating: AMBER; Mode of pathogenicity: None; Publications: 27302973; Phenotypes: Diarrhea 5, with tufting enteropathy, congenital, MIM# 613217; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Predominantly Antibody Deficiency v0.39 CR2 Zornitza Stark Marked gene: CR2 as ready
Predominantly Antibody Deficiency v0.39 CR2 Zornitza Stark Gene: cr2 has been classified as Amber List (Moderate Evidence).
Predominantly Antibody Deficiency v0.39 CR2 Zornitza Stark Phenotypes for gene: CR2 were changed from to Immunodeficiency, common variable, 7, MIM# 614699
Predominantly Antibody Deficiency v0.38 CR2 Zornitza Stark Publications for gene: CR2 were set to
Predominantly Antibody Deficiency v0.37 CR2 Zornitza Stark Mode of inheritance for gene: CR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Predominantly Antibody Deficiency v0.36 CR2 Zornitza Stark Classified gene: CR2 as Amber List (moderate evidence)
Predominantly Antibody Deficiency v0.36 CR2 Zornitza Stark Gene: cr2 has been classified as Amber List (Moderate Evidence).
Predominantly Antibody Deficiency v0.35 CR2 Zornitza Stark reviewed gene: CR2: Rating: AMBER; Mode of pathogenicity: None; Publications: 22035880, 26325596; Phenotypes: Immunodeficiency, common variable, 7, MIM# 614699; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2075 CR2 Zornitza Stark Marked gene: CR2 as ready
Mendeliome v0.2075 CR2 Zornitza Stark Gene: cr2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2075 CR2 Zornitza Stark Publications for gene: CR2 were set to
Mendeliome v0.2074 CR2 Zornitza Stark Phenotypes for gene: CR2 were changed from to Immunodeficiency, common variable, 7, MIM# 614699
Mendeliome v0.2073 CR2 Zornitza Stark Mode of inheritance for gene: CR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Dilated Cardiomyopathy v0.25 DMD Crystle Lee reviewed gene: DMD: Rating: GREEN; Mode of pathogenicity: None; Publications: 26066469; Phenotypes: Cardiomyopathy, dilated, 3B (MIM#302045); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.2072 CR2 Zornitza Stark Classified gene: CR2 as Amber List (moderate evidence)
Mendeliome v0.2072 CR2 Zornitza Stark Gene: cr2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2071 CR2 Zornitza Stark reviewed gene: CR2: Rating: AMBER; Mode of pathogenicity: None; Publications: 22035880, 26325596; Phenotypes: Immunodeficiency, common variable, 7, MIM# 614699; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.6 DMD Crystle Lee reviewed gene: DMD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Duchenne muscular dystrophy (MIM#310200), Becker muscular dystrophy (MIM#300376); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Inflammatory bowel disease v0.17 COL7A1 Zornitza Stark Marked gene: COL7A1 as ready
Inflammatory bowel disease v0.17 COL7A1 Zornitza Stark Gene: col7a1 has been classified as Red List (Low Evidence).
Inflammatory bowel disease v0.17 COL7A1 Zornitza Stark Phenotypes for gene: COL7A1 were changed from to Epidermolysis bullosa dystrophica, AR, MIM# 226600
Inflammatory bowel disease v0.16 COL7A1 Zornitza Stark Publications for gene: COL7A1 were set to
Inflammatory bowel disease v0.15 COL7A1 Zornitza Stark Mode of inheritance for gene: COL7A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Inflammatory bowel disease v0.14 COL7A1 Zornitza Stark Classified gene: COL7A1 as Red List (low evidence)
Inflammatory bowel disease v0.14 COL7A1 Zornitza Stark Gene: col7a1 has been classified as Red List (Low Evidence).
Inflammatory bowel disease v0.13 COL7A1 Zornitza Stark reviewed gene: COL7A1: Rating: RED; Mode of pathogenicity: None; Publications: 27537055, 25058236; Phenotypes: Epidermolysis bullosa dystrophica, AR, MIM# 226600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.23 CFHR5 Zornitza Stark Marked gene: CFHR5 as ready
Complement Deficiencies v0.23 CFHR5 Zornitza Stark Gene: cfhr5 has been classified as Red List (Low Evidence).
Complement Deficiencies v0.23 CFHR5 Zornitza Stark Phenotypes for gene: CFHR5 were changed from to Nephropathy due to CFHR5 deficiency, MIM# 614809
Complement Deficiencies v0.22 CFHR5 Zornitza Stark Classified gene: CFHR5 as Red List (low evidence)
Complement Deficiencies v0.22 CFHR5 Zornitza Stark Gene: cfhr5 has been classified as Red List (Low Evidence).
Complement Deficiencies v0.21 CFHR5 Zornitza Stark reviewed gene: CFHR5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephropathy due to CFHR5 deficiency, MIM# 614809; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2071 CFHR4 Zornitza Stark Marked gene: CFHR4 as ready
Mendeliome v0.2071 CFHR4 Zornitza Stark Gene: cfhr4 has been classified as Red List (Low Evidence).
Mendeliome v0.2071 CFHR4 Zornitza Stark Classified gene: CFHR4 as Red List (low evidence)
Mendeliome v0.2071 CFHR4 Zornitza Stark Gene: cfhr4 has been classified as Red List (Low Evidence).
Mendeliome v0.2070 CFHR4 Zornitza Stark reviewed gene: CFHR4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Complement Deficiencies v0.21 CFHR4 Zornitza Stark Marked gene: CFHR4 as ready
Complement Deficiencies v0.21 CFHR4 Zornitza Stark Gene: cfhr4 has been classified as Red List (Low Evidence).
Complement Deficiencies v0.21 CFHR4 Zornitza Stark Classified gene: CFHR4 as Red List (low evidence)
Complement Deficiencies v0.21 CFHR4 Zornitza Stark Gene: cfhr4 has been classified as Red List (Low Evidence).
Complement Deficiencies v0.20 CFHR4 Zornitza Stark changed review comment from: Association is with aHUS, gene is on aHUS panel.; to: No Mendelian gene disease association I can find.
Complement Deficiencies v0.20 CFHR4 Zornitza Stark reviewed gene: CFHR4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Susceptibility to atypical haemolytic uraemic syndrome; Mode of inheritance: None
Complement Deficiencies v0.20 CFHR3 Zornitza Stark Marked gene: CFHR3 as ready
Complement Deficiencies v0.20 CFHR3 Zornitza Stark Gene: cfhr3 has been classified as Red List (Low Evidence).
Complement Deficiencies v0.20 CFHR3 Zornitza Stark Phenotypes for gene: CFHR3 were changed from to {Hemolytic uremic syndrome, atypical, susceptibility to}, MIM# 235400
Complement Deficiencies v0.19 CFHR3 Zornitza Stark Mode of inheritance for gene: CFHR3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Complement Deficiencies v0.18 CFHR3 Zornitza Stark Classified gene: CFHR3 as Red List (low evidence)
Complement Deficiencies v0.18 CFHR3 Zornitza Stark Gene: cfhr3 has been classified as Red List (Low Evidence).
Complement Deficiencies v0.17 CFHR3 Zornitza Stark reviewed gene: CFHR3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Hemolytic uremic syndrome, atypical, susceptibility to}, MIM# 235400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2070 CFHR2 Zornitza Stark Marked gene: CFHR2 as ready
Mendeliome v0.2070 CFHR2 Zornitza Stark Gene: cfhr2 has been classified as Green List (High Evidence).
Mendeliome v0.2070 CFHR2 Zornitza Stark Phenotypes for gene: CFHR2 were changed from to C3 glomerulopathy; C3G; Immune complex MPGN; IC-MPGN
Mendeliome v0.2069 CFHR2 Zornitza Stark Publications for gene: CFHR2 were set to
Mendeliome v0.2068 CFHR2 Zornitza Stark Mode of inheritance for gene: CFHR2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2067 CFHR2 Zornitza Stark Tag SV/CNV tag was added to gene: CFHR2.
Mendeliome v0.2067 CFHR2 Zornitza Stark reviewed gene: CFHR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24334459, 23728178, 20800271; Phenotypes: C3 glomerulopathy, C3G, Immune complex MPGN, IC-MPGN; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Complement Deficiencies v0.17 CFHR2 Zornitza Stark Tag SV/CNV tag was added to gene: CFHR2.
Complement Deficiencies v0.17 CFHR2 Zornitza Stark Marked gene: CFHR2 as ready
Complement Deficiencies v0.17 CFHR2 Zornitza Stark Gene: cfhr2 has been classified as Red List (Low Evidence).
Complement Deficiencies v0.17 CFHR2 Zornitza Stark Phenotypes for gene: CFHR2 were changed from to C3 glomerulopathy; C3G; Immune complex MPGN; IC-MPGN
Complement Deficiencies v0.16 CFHR2 Zornitza Stark Publications for gene: CFHR2 were set to
Complement Deficiencies v0.15 CFHR2 Zornitza Stark Mode of inheritance for gene: CFHR2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Complement Deficiencies v0.14 CFHR2 Zornitza Stark Classified gene: CFHR2 as Red List (low evidence)
Complement Deficiencies v0.14 CFHR2 Zornitza Stark Gene: cfhr2 has been classified as Red List (Low Evidence).
Complement Deficiencies v0.13 CFHR2 Zornitza Stark reviewed gene: CFHR2: Rating: RED; Mode of pathogenicity: None; Publications: 24334459, 23728178, 20800271; Phenotypes: C3 glomerulopathy, C3G, Immune complex MPGN, IC-MPGN; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Complement Deficiencies v0.13 CFHR1 Zornitza Stark Marked gene: CFHR1 as ready
Complement Deficiencies v0.13 CFHR1 Zornitza Stark Gene: cfhr1 has been classified as Red List (Low Evidence).
Complement Deficiencies v0.13 CFHR1 Zornitza Stark Classified gene: CFHR1 as Red List (low evidence)
Complement Deficiencies v0.13 CFHR1 Zornitza Stark Gene: cfhr1 has been classified as Red List (Low Evidence).
Complement Deficiencies v0.12 CFHR1 Zornitza Stark reviewed gene: CFHR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.2067 CFB Zornitza Stark Phenotypes for gene: CFB were changed from Complement factor B deficiency, MIM# 615561 to Complement factor B deficiency, MIM# 615561; {Hemolytic uremic syndrome, atypical, susceptibility to, 4} 612924
Mendeliome v0.2066 CFB Zornitza Stark Publications for gene: CFB were set to 24152280
Mendeliome v0.2065 CFB Zornitza Stark Mode of inheritance for gene: CFB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2064 CFB Zornitza Stark Classified gene: CFB as Green List (high evidence)
Mendeliome v0.2064 CFB Zornitza Stark Gene: cfb has been classified as Green List (High Evidence).
Mendeliome v0.2063 CFB Zornitza Stark changed review comment from: Single individual reported, supportive immunophenotyping data.; to: Single individual reported with bi-allelic variants and complement deficiency, supportive immunophenotyping data. Mono-allelic variants linked to susceptibility to aHUS.
Mendeliome v0.2063 CFB Zornitza Stark edited their review of gene: CFB: Changed rating: GREEN; Changed publications: 24152280, 17182750; Changed phenotypes: Complement factor B deficiency, MIM# 615561, {Hemolytic uremic syndrome, atypical, susceptibility to, 4} 612924; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2063 CFB Zornitza Stark Marked gene: CFB as ready
Mendeliome v0.2063 CFB Zornitza Stark Gene: cfb has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2063 CFB Zornitza Stark Phenotypes for gene: CFB were changed from to Complement factor B deficiency, MIM# 615561
Mendeliome v0.2062 CFB Zornitza Stark Publications for gene: CFB were set to
Mendeliome v0.2061 CFB Zornitza Stark Mode of inheritance for gene: CFB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2060 CFB Zornitza Stark Classified gene: CFB as Amber List (moderate evidence)
Mendeliome v0.2060 CFB Zornitza Stark Gene: cfb has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2059 CFB Zornitza Stark reviewed gene: CFB: Rating: AMBER; Mode of pathogenicity: None; Publications: 24152280; Phenotypes: Complement factor B deficiency, MIM# 615561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.12 CFB Zornitza Stark Phenotypes for gene: CFB were changed from to Complement factor B deficiency, MIM# 615561
Complement Deficiencies v0.11 CFB Zornitza Stark Publications for gene: CFB were set to
Complement Deficiencies v0.10 CFB Zornitza Stark Mode of inheritance for gene: CFB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.9 CFB Zornitza Stark Classified gene: CFB as Amber List (moderate evidence)
Complement Deficiencies v0.9 CFB Zornitza Stark Gene: cfb has been classified as Amber List (Moderate Evidence).
Complement Deficiencies v0.8 CFB Zornitza Stark reviewed gene: CFB: Rating: AMBER; Mode of pathogenicity: None; Publications: 24152280; Phenotypes: Complement factor B deficiency, MIM# 615561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.109 CD8A Zornitza Stark Marked gene: CD8A as ready
Combined Immunodeficiency v0.109 CD8A Zornitza Stark Gene: cd8a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2059 CD8A Zornitza Stark Marked gene: CD8A as ready
Mendeliome v0.2059 CD8A Zornitza Stark Gene: cd8a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2059 CD8A Zornitza Stark Phenotypes for gene: CD8A were changed from to CD8 deficiency, familial, MIM# 608957
Combined Immunodeficiency v0.109 CD8A Zornitza Stark Publications for gene: CD8A were set to
Mendeliome v0.2058 CD8A Zornitza Stark Publications for gene: CD8A were set to
Mendeliome v0.2057 CD8A Zornitza Stark Mode of inheritance for gene: CD8A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2056 CD8A Zornitza Stark Classified gene: CD8A as Amber List (moderate evidence)
Mendeliome v0.2056 CD8A Zornitza Stark Gene: cd8a has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.108 CD8A Zornitza Stark Phenotypes for gene: CD8A were changed from to CD8 deficiency, familial, MIM# 608957
Mendeliome v0.2055 CD8A Zornitza Stark reviewed gene: CD8A: Rating: AMBER; Mode of pathogenicity: None; Publications: 11435463, 17658607, 26563160; Phenotypes: CD8 deficiency, familial, MIM# 608957; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.107 CD8A Zornitza Stark Mode of inheritance for gene: CD8A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.106 CD8A Zornitza Stark Classified gene: CD8A as Amber List (moderate evidence)
Combined Immunodeficiency v0.106 CD8A Zornitza Stark Gene: cd8a has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.105 CD8A Zornitza Stark edited their review of gene: CD8A: Changed rating: AMBER
Combined Immunodeficiency v0.105 CD8A Zornitza Stark reviewed gene: CD8A: Rating: ; Mode of pathogenicity: None; Publications: 11435463, 17658607, 26563160; Phenotypes: CD8 deficiency, familial, MIM# 608957; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2055 CD81 Zornitza Stark Marked gene: CD81 as ready
Mendeliome v0.2055 CD81 Zornitza Stark Gene: cd81 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2055 CD81 Zornitza Stark Phenotypes for gene: CD81 were changed from to Immunodeficiency, common variable, 6, MIM# 613496
Mendeliome v0.2054 CD81 Zornitza Stark Publications for gene: CD81 were set to
Mendeliome v0.2053 CD81 Zornitza Stark Mode of inheritance for gene: CD81 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2052 CD81 Zornitza Stark Classified gene: CD81 as Amber List (moderate evidence)
Mendeliome v0.2052 CD81 Zornitza Stark Gene: cd81 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2051 CD81 Zornitza Stark reviewed gene: CD81: Rating: AMBER; Mode of pathogenicity: None; Publications: 20237408; Phenotypes: Immunodeficiency, common variable, 6, MIM# 613496; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Predominantly Antibody Deficiency v0.35 CD81 Zornitza Stark Marked gene: CD81 as ready
Predominantly Antibody Deficiency v0.35 CD81 Zornitza Stark Gene: cd81 has been classified as Amber List (Moderate Evidence).
Predominantly Antibody Deficiency v0.35 CD81 Zornitza Stark Phenotypes for gene: CD81 were changed from to Immunodeficiency, common variable, 6, MIM# 613496
Predominantly Antibody Deficiency v0.34 CD81 Zornitza Stark Publications for gene: CD81 were set to
Predominantly Antibody Deficiency v0.33 CD81 Zornitza Stark Mode of inheritance for gene: CD81 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Predominantly Antibody Deficiency v0.32 CD81 Zornitza Stark Classified gene: CD81 as Amber List (moderate evidence)
Predominantly Antibody Deficiency v0.32 CD81 Zornitza Stark Gene: cd81 has been classified as Amber List (Moderate Evidence).
Predominantly Antibody Deficiency v0.31 CD81 Zornitza Stark reviewed gene: CD81: Rating: AMBER; Mode of pathogenicity: None; Publications: 20237408; Phenotypes: Immunodeficiency, common variable, 6, MIM# 613496; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe Combined Immunodeficiency v0.17 CD247 Zornitza Stark Classified gene: CD247 as Green List (high evidence)
Severe Combined Immunodeficiency v0.17 CD247 Zornitza Stark Gene: cd247 has been classified as Green List (High Evidence).
Mendeliome v0.2051 CD247 Zornitza Stark Classified gene: CD247 as Green List (high evidence)
Mendeliome v0.2051 CD247 Zornitza Stark Gene: cd247 has been classified as Green List (High Evidence).
Mendeliome v0.2050 CD247 Zornitza Stark changed review comment from: Also known as CD3Z. Single individual reported with homozygous germline nonsense variant, which was present in some T cells, but others had the nonsense variant in combination with one of three different missense somatic variants.; to: Also known as CD3Z. Note one individual reported with homozygous germline nonsense variant, which was present in some T cells, but others had the nonsense variant in combination with one of three different missense somatic variants.
Mendeliome v0.2050 CD247 Zornitza Stark edited their review of gene: CD247: Added comment: Two reports in the literature, note additional two reports in ClinVar; functional data.; Changed rating: GREEN; Changed publications: 16672702, 17170122
Severe Combined Immunodeficiency v0.16 CD247 Zornitza Stark changed review comment from: Also known as CD3Z. Single individual reported with homozygous germline nonsense variant, which was present in some T cells, but others had the nonsense variant in combination with one of three different missense somatic variants.; to: Also known as CD3Z. Note one individual reported with homozygous germline nonsense variant, which was present in some T cells, but others had the nonsense variant in combination with one of three different missense somatic variants.
Severe Combined Immunodeficiency v0.16 CD247 Zornitza Stark edited their review of gene: CD247: Added comment: Two reports in the literature, note additional two reports in ClinVar; functional data.; Changed rating: GREEN; Changed publications: 16672702, 17170122
Mendeliome v0.2050 C8G Zornitza Stark Marked gene: C8G as ready
Mendeliome v0.2050 C8G Zornitza Stark Gene: c8g has been classified as Red List (Low Evidence).
Mendeliome v0.2050 C8G Zornitza Stark Classified gene: C8G as Red List (low evidence)
Mendeliome v0.2050 C8G Zornitza Stark Gene: c8g has been classified as Red List (Low Evidence).
Mendeliome v0.2049 C8G Zornitza Stark reviewed gene: C8G: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Complement Deficiencies v0.8 C8G Zornitza Stark Marked gene: C8G as ready
Complement Deficiencies v0.8 C8G Zornitza Stark Gene: c8g has been classified as Red List (Low Evidence).
Complement Deficiencies v0.8 C8G Zornitza Stark Classified gene: C8G as Red List (low evidence)
Complement Deficiencies v0.8 C8G Zornitza Stark Gene: c8g has been classified as Red List (Low Evidence).
Complement Deficiencies v0.7 C8G Zornitza Stark reviewed gene: C8G: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.2049 BLOC1S6 Zornitza Stark Marked gene: BLOC1S6 as ready
Mendeliome v0.2049 BLOC1S6 Zornitza Stark Gene: bloc1s6 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2049 BLOC1S6 Zornitza Stark Phenotypes for gene: BLOC1S6 were changed from to Hermansky-Pudlak syndrome 9, MIM# 614171
Mendeliome v0.2048 BLOC1S6 Zornitza Stark Publications for gene: BLOC1S6 were set to
Mendeliome v0.2047 BLOC1S6 Zornitza Stark Mode of inheritance for gene: BLOC1S6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2046 BLOC1S6 Zornitza Stark Classified gene: BLOC1S6 as Amber List (moderate evidence)
Mendeliome v0.2046 BLOC1S6 Zornitza Stark Gene: bloc1s6 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2045 BLOC1S6 Zornitza Stark reviewed gene: BLOC1S6: Rating: AMBER; Mode of pathogenicity: None; Publications: 22461475, 21665000, 32245340; Phenotypes: Hermansky-Pudlak syndrome 9, MIM# 614171; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.50 BLOC1S6 Zornitza Stark Classified gene: BLOC1S6 as Amber List (moderate evidence)
Disorders of immune dysregulation v0.50 BLOC1S6 Zornitza Stark Gene: bloc1s6 has been classified as Amber List (Moderate Evidence).
Disorders of immune dysregulation v0.49 BLOC1S6 Zornitza Stark edited their review of gene: BLOC1S6: Changed rating: AMBER
Disorders of immune dysregulation v0.49 BLOC1S6 Zornitza Stark changed review comment from: Same homozygous variant identified in two individuals with HPS, however, note that one of the articles has been retracted due to some of the data having been falsified.; to: Same homozygous variant identified in two individuals with HPS, however, note that one of the articles has been retracted due to some of the data having been falsified. Another individual reported in 32245340 but pigmentary and platelet abnormalities only.
Disorders of immune dysregulation v0.49 BLOC1S6 Zornitza Stark edited their review of gene: BLOC1S6: Changed publications: 22461475, 21665000, 32245340
Proteinuria v0.109 SGPL1 Zornitza Stark Marked gene: SGPL1 as ready
Proteinuria v0.109 SGPL1 Zornitza Stark Gene: sgpl1 has been classified as Green List (High Evidence).
Proteinuria v0.109 SGPL1 Zornitza Stark Phenotypes for gene: SGPL1 were changed from to Nephrotic syndrome, type 14, MIM# 617575
Proteinuria v0.108 SGPL1 Zornitza Stark Publications for gene: SGPL1 were set to
Proteinuria v0.107 SGPL1 Zornitza Stark Mode of inheritance for gene: SGPL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.106 SGPL1 Zornitza Stark reviewed gene: SGPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28165343, 28165339; Phenotypes: Nephrotic syndrome, type 14, MIM# 617575; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.654 UBA5 Zornitza Stark Marked gene: UBA5 as ready
Genetic Epilepsy v0.654 UBA5 Zornitza Stark Gene: uba5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.654 UBA5 Zornitza Stark Publications for gene: UBA5 were set to 28965491; 27545674; 27545681
Genetic Epilepsy v0.653 UBA5 Zornitza Stark Phenotypes for gene: UBA5 were changed from to Epileptic encephalopathy, early infantile, 44 (MIM#617132)
Optic Atrophy v0.56 AUH Zornitza Stark Marked gene: AUH as ready
Optic Atrophy v0.56 AUH Zornitza Stark Gene: auh has been classified as Amber List (Moderate Evidence).
Optic Atrophy v0.56 AUH Zornitza Stark Phenotypes for gene: AUH were changed from 3-methylglutaconic aciduria, type I, MIM# 250950 to 3-methylglutaconic aciduria, type I, MIM# 250950
Genetic Epilepsy v0.652 UBA5 Zornitza Stark Publications for gene: UBA5 were set to 28965491; 27545674; 27545681
Gastrointestinal neuromuscular disease v0.2 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Dystonia and Chorea v0.60 MECR Zornitza Stark Marked gene: MECR as ready
Dystonia and Chorea v0.60 MECR Zornitza Stark Gene: mecr has been classified as Green List (High Evidence).
Dystonia and Chorea v0.60 MECR Zornitza Stark Phenotypes for gene: MECR were changed from Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities to Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM#617282
Dystonia and Chorea v0.59 MECR Zornitza Stark Classified gene: MECR as Green List (high evidence)
Dystonia and Chorea v0.59 MECR Zornitza Stark Gene: mecr has been classified as Green List (High Evidence).
Optic Atrophy v0.55 AUH Zornitza Stark Phenotypes for gene: AUH were changed from to 3-methylglutaconic aciduria, type I, MIM# 250950
Genetic Epilepsy v0.651 UBA5 Zornitza Stark Publications for gene: UBA5 were set to
Genetic Epilepsy v0.650 UBA5 Zornitza Stark Mode of inheritance for gene: UBA5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.649 UBA5 Zornitza Stark reviewed gene: UBA5: Rating: GREEN; Mode of pathogenicity: None; Publications: 28965491, 27545674, 27545681; Phenotypes: Epileptic encephalopathy, early infantile, 44 (MIM#617132); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.54 UBA5 Zornitza Stark Marked gene: UBA5 as ready
Optic Atrophy v0.54 UBA5 Zornitza Stark Gene: uba5 has been classified as Red List (Low Evidence).
Optic Atrophy v0.54 UBA5 Zornitza Stark Phenotypes for gene: UBA5 were changed from to Epileptic encephalopathy, early infantile, 44 (MIM#617132)
Optic Atrophy v0.53 UBA5 Zornitza Stark Publications for gene: UBA5 were set to
Optic Atrophy v0.52 UBA5 Zornitza Stark Mode of inheritance for gene: UBA5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.51 UBA5 Zornitza Stark Classified gene: UBA5 as Red List (low evidence)
Optic Atrophy v0.51 UBA5 Zornitza Stark Gene: uba5 has been classified as Red List (Low Evidence).
Optic Atrophy v0.50 NBAS Zornitza Stark Marked gene: NBAS as ready
Optic Atrophy v0.50 NBAS Zornitza Stark Added comment: Comment when marking as ready: Also note individuals in DECIPHER with eye phenotypes and bi-allelic variants but unpublished and also unclear if optic atrophy. Borderline Green/Amber for optic atrophy.
Optic Atrophy v0.50 NBAS Zornitza Stark Gene: nbas has been classified as Green List (High Evidence).
Optic Atrophy v0.50 NBAS Zornitza Stark Classified gene: NBAS as Green List (high evidence)
Optic Atrophy v0.50 NBAS Zornitza Stark Gene: nbas has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2518 AP3B2 Zornitza Stark Marked gene: AP3B2 as ready
Intellectual disability syndromic and non-syndromic v0.2518 AP3B2 Zornitza Stark Gene: ap3b2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2518 AP3B2 Zornitza Stark Phenotypes for gene: AP3B2 were changed from to Early-onset epileptic encephalopathy with optic atrophy, MIM#617276
Intellectual disability syndromic and non-syndromic v0.2517 AP3B2 Zornitza Stark Publications for gene: AP3B2 were set to
Intellectual disability syndromic and non-syndromic v0.2516 AP3B2 Zornitza Stark Mode of inheritance for gene: AP3B2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2515 AP3B2 Zornitza Stark reviewed gene: AP3B2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27889060; Phenotypes: Early-onset epileptic encephalopathy with optic atrophy, MIM#617276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.649 AP3B2 Zornitza Stark Marked gene: AP3B2 as ready
Genetic Epilepsy v0.649 AP3B2 Zornitza Stark Gene: ap3b2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.649 AP3B2 Zornitza Stark Phenotypes for gene: AP3B2 were changed from to Early-onset epileptic encephalopathy with optic atrophy, MIM#617276
Genetic Epilepsy v0.648 AP3B2 Zornitza Stark Publications for gene: AP3B2 were set to
Genetic Epilepsy v0.647 AP3B2 Zornitza Stark Mode of inheritance for gene: AP3B2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.646 AP3B2 Zornitza Stark reviewed gene: AP3B2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27889060; Phenotypes: Early-onset epileptic encephalopathy with optic atrophy, MIM#617276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.49 ATAD3A Zornitza Stark Marked gene: ATAD3A as ready
Optic Atrophy v0.49 ATAD3A Zornitza Stark Added comment: Comment when marking as ready: Optic atrophy reported in individuals with the recurrent de novo missense p.Arg528Trp only at this stage.
Optic Atrophy v0.49 ATAD3A Zornitza Stark Gene: atad3a has been classified as Green List (High Evidence).
Optic Atrophy v0.49 AUH Zornitza Stark Publications for gene: AUH were set to 20855850; 30143805; 31765440; 1594352
Optic Atrophy v0.48 AUH Zornitza Stark Mode of inheritance for gene: AUH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.47 AUH Zornitza Stark Publications for gene: AUH were set to
Optic Atrophy v0.46 AP3B2 Zornitza Stark Publications for gene: AP3B2 were set to 27889060
Optic Atrophy v0.46 AP3B2 Zornitza Stark Marked gene: AP3B2 as ready
Optic Atrophy v0.46 AP3B2 Zornitza Stark Gene: ap3b2 has been classified as Green List (High Evidence).
Optic Atrophy v0.46 ATAD3A Zornitza Stark Phenotypes for gene: ATAD3A were changed from to Harel-Yoon syndrome, MIM#617183
Optic Atrophy v0.45 ATAD3A Zornitza Stark Publications for gene: ATAD3A were set to 27640307; 28652416
Optic Atrophy v0.44 NBAS Elena Savva gene: NBAS was added
gene: NBAS was added to Optic Atrophy. Sources: Expert Review
Mode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NBAS were set to PMID: 20577004; 26286438
Phenotypes for gene: NBAS were set to Short stature, optic nerve atrophy, and Pelger-Huet anomaly
Review for gene: NBAS was set to GREEN
Added comment: PMID: 20577004 - Study of 30 Yakut families found ALL had OA, 33/34 patients had the same homozygous missense*, founder very likely

PMID: 26286438 - 1 patient chet for a PTC and missense w/ AO. Second patient (also chet PTC/missense) had NO OA
Sources: Expert Review
Optic Atrophy v0.44 UBA5 Crystle Lee reviewed gene: UBA5: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 28965491, PMID: 27545674, PMID: 27545681; Phenotypes: Epileptic encephalopathy, early infantile, 44 (MIM#617132); Mode of inheritance: None
Optic Atrophy v0.44 AP3B2 Zornitza Stark Phenotypes for gene: AP3B2 were changed from to Early-onset epileptic encephalopathy with optic atrophy, MIM#617276
Optic Atrophy v0.43 ATAD3A Zornitza Stark Publications for gene: ATAD3A were set to
Optic Atrophy v0.43 AP3B2 Zornitza Stark Publications for gene: AP3B2 were set to
Dystonia and Chorea v0.58 ACTB Bryony Thompson reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25255767, 31970217, 28487785, 28849312, 29788902; Phenotypes: Dystonia, juvenile-onset MIM#607371; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Optic Atrophy v0.42 AP3B2 Zornitza Stark Mode of inheritance for gene: AP3B2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.41 ATAD3A Zornitza Stark Mode of pathogenicity for gene: ATAD3A was changed from to Other
Optic Atrophy v0.40 UCHL1 Zornitza Stark Marked gene: UCHL1 as ready
Optic Atrophy v0.40 UCHL1 Zornitza Stark Gene: uchl1 has been classified as Green List (High Evidence).
Optic Atrophy v0.40 ATAD3A Zornitza Stark Mode of inheritance for gene: ATAD3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Optic Atrophy v0.39 TIMM50 Zornitza Stark Mode of inheritance for gene: TIMM50 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.38 C12orf65 Zornitza Stark Marked gene: C12orf65 as ready
Optic Atrophy v0.38 C12orf65 Zornitza Stark Gene: c12orf65 has been classified as Green List (High Evidence).
Optic Atrophy v0.38 AUH Zornitza Stark Classified gene: AUH as Amber List (moderate evidence)
Optic Atrophy v0.38 AUH Zornitza Stark Gene: auh has been classified as Amber List (Moderate Evidence).
Optic Atrophy v0.37 AUH Zornitza Stark reviewed gene: AUH: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-methylglutaconic aciduria, type I 250950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.37 UCHL1 Zornitza Stark Phenotypes for gene: UCHL1 were changed from to Spastic paraplegia 79, autosomal recessive (MIM#615491)
Optic Atrophy v0.37 TIMM50 Zornitza Stark Mode of inheritance for gene: TIMM50 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.36 CCDC88A Zornitza Stark Marked gene: CCDC88A as ready
Optic Atrophy v0.36 CCDC88A Zornitza Stark Gene: ccdc88a has been classified as Amber List (Moderate Evidence).
Optic Atrophy v0.36 C12orf65 Zornitza Stark Phenotypes for gene: C12orf65 were changed from to Combined oxidative phosphorylation deficiency 7; Spastic paraplegia 55, autosomal recessive
Optic Atrophy v0.35 TIMM50 Zornitza Stark Marked gene: TIMM50 as ready
Optic Atrophy v0.35 TIMM50 Zornitza Stark Gene: timm50 has been classified as Amber List (Moderate Evidence).
Optic Atrophy v0.35 C12orf65 Zornitza Stark Publications for gene: C12orf65 were set to
Optic Atrophy v0.34 C12orf65 Zornitza Stark Mode of inheritance for gene: C12orf65 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.33 UCHL1 Zornitza Stark Publications for gene: UCHL1 were set to
Optic Atrophy v0.32 MECR Zornitza Stark Marked gene: MECR as ready
Optic Atrophy v0.32 MECR Zornitza Stark Gene: mecr has been classified as Green List (High Evidence).
Optic Atrophy v0.32 UCHL1 Zornitza Stark Mode of inheritance for gene: UCHL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.31 CCDC88A Zornitza Stark Phenotypes for gene: CCDC88A were changed from PEHO syndrome-like, MIM#617507 to PEHO syndrome-like, MIM#617507
Optic Atrophy v0.30 CISD2 Zornitza Stark Marked gene: CISD2 as ready
Optic Atrophy v0.30 CISD2 Zornitza Stark Gene: cisd2 has been classified as Green List (High Evidence).
Optic Atrophy v0.30 CCDC88A Zornitza Stark Phenotypes for gene: CCDC88A were changed from to PEHO syndrome-like, MIM#617507
Optic Atrophy v0.29 CCDC88A Zornitza Stark Marked gene: CCDC88A as ready
Optic Atrophy v0.29 CCDC88A Zornitza Stark Added comment: Comment when marking as ready: Two families and a mouse model; only one family reported with OA.
Optic Atrophy v0.29 CCDC88A Zornitza Stark Gene: ccdc88a has been classified as Amber List (Moderate Evidence).
Optic Atrophy v0.29 CCDC88A Zornitza Stark Publications for gene: CCDC88A were set to
Optic Atrophy v0.28 CCDC88A Zornitza Stark Mode of inheritance for gene: CCDC88A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.27 CCDC88A Zornitza Stark Classified gene: CCDC88A as Amber List (moderate evidence)
Optic Atrophy v0.27 CCDC88A Zornitza Stark Gene: ccdc88a has been classified as Amber List (Moderate Evidence).
Optic Atrophy v0.26 CISD2 Zornitza Stark Phenotypes for gene: CISD2 were changed from Wolfram syndrome 2, MIM#604928 to Wolfram syndrome 2, MIM#604928
Optic Atrophy v0.26 MECR Zornitza Stark Phenotypes for gene: MECR were changed from Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities to Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
Optic Atrophy v0.25 TIMM50 Zornitza Stark Phenotypes for gene: TIMM50 were changed from 3-methylglutaconic aciduria, type IX (MIM#617698) to 3-methylglutaconic aciduria, type IX (MIM#617698)
Optic Atrophy v0.25 SLC25A46 Zornitza Stark Marked gene: SLC25A46 as ready
Optic Atrophy v0.25 SLC25A46 Zornitza Stark Gene: slc25a46 has been classified as Green List (High Evidence).
Optic Atrophy v0.25 TIMM50 Zornitza Stark Phenotypes for gene: TIMM50 were changed from to 3-methylglutaconic aciduria, type IX (MIM#617698)
Optic Atrophy v0.24 TIMM50 Zornitza Stark Publications for gene: TIMM50 were set to
Optic Atrophy v0.23 TIMM50 Zornitza Stark Classified gene: TIMM50 as Amber List (moderate evidence)
Optic Atrophy v0.23 TIMM50 Zornitza Stark Gene: timm50 has been classified as Amber List (Moderate Evidence).
Optic Atrophy v0.22 SLC25A46 Zornitza Stark Phenotypes for gene: SLC25A46 were changed from to Neuropathy, hereditary motor and sensory, type VIB (MIM#616505)
Optic Atrophy v0.22 MECR Zornitza Stark Phenotypes for gene: MECR were changed from to Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
Optic Atrophy v0.22 CISD2 Zornitza Stark Phenotypes for gene: CISD2 were changed from to Wolfram syndrome 2, MIM#604928
Optic Atrophy v0.21 SLC25A46 Zornitza Stark Publications for gene: SLC25A46 were set to
Optic Atrophy v0.20 SLC25A46 Zornitza Stark Mode of inheritance for gene: SLC25A46 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Dystonia and Chorea v0.58 MECR Elena Savva gene: MECR was added
gene: MECR was added to Dystonia - complex. Sources: Expert Review
Mode of inheritance for gene: MECR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MECR were set to PMID: 27817865; 31137067
Phenotypes for gene: MECR were set to Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
Review for gene: MECR was set to GREEN
Added comment: PMID: 27817865 - 4/5 families w/ bilallelic variants reported w/ dystonia with variable features

PMID: 31137067 - 1 patient w/ chet missense/PTCs and dystonia with variable features
Sources: Expert Review
Optic Atrophy v0.19 CISD2 Zornitza Stark Publications for gene: CISD2 were set to
Optic Atrophy v0.18 NDUFS1 Zornitza Stark Marked gene: NDUFS1 as ready
Optic Atrophy v0.18 NDUFS1 Zornitza Stark Gene: ndufs1 has been classified as Amber List (Moderate Evidence).
Optic Atrophy v0.18 CISD2 Zornitza Stark Mode of inheritance for gene: CISD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.17 MECR Zornitza Stark Publications for gene: MECR were set to
Optic Atrophy v0.16 MECR Zornitza Stark Mode of inheritance for gene: MECR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.15 NDUFS1 Zornitza Stark Phenotypes for gene: NDUFS1 were changed from to Mitochondrial complex I deficiency, nuclear type 5, 618226
Optic Atrophy v0.14 NDUFS1 Zornitza Stark Publications for gene: NDUFS1 were set to
Optic Atrophy v0.13 NDUFS1 Zornitza Stark Mode of inheritance for gene: NDUFS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.12 NDUFS1 Zornitza Stark Classified gene: NDUFS1 as Amber List (moderate evidence)
Optic Atrophy v0.12 NDUFS1 Zornitza Stark Gene: ndufs1 has been classified as Amber List (Moderate Evidence).
Optic Atrophy v0.11 NDUFS1 Elena Savva reviewed gene: NDUFS1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 11349233, 24952175, 22200994, 21203893; Phenotypes: Mitochondrial complex I deficiency, nuclear type 5; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.11 MECR Elena Savva reviewed gene: MECR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27817865, 31137067; Phenotypes: Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.6 BLOC1S6 Zornitza Stark Marked gene: BLOC1S6 as ready
Ocular and Oculocutaneous Albinism v0.6 BLOC1S6 Zornitza Stark Gene: bloc1s6 has been classified as Amber List (Moderate Evidence).
Ocular and Oculocutaneous Albinism v0.6 BLOC1S6 Zornitza Stark Phenotypes for gene: BLOC1S6 were changed from to Hermansky-Pudlak syndrome 9, MIM# 614171
Ocular and Oculocutaneous Albinism v0.5 BLOC1S6 Zornitza Stark Publications for gene: BLOC1S6 were set to
Ocular and Oculocutaneous Albinism v0.4 BLOC1S6 Zornitza Stark Mode of inheritance for gene: BLOC1S6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.11 CISD2 Elena Savva reviewed gene: CISD2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19451219, 25056293, 28335035, 31391115, 25371195; Phenotypes: Wolfram syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.11 SLC25A46 Crystle Lee reviewed gene: SLC25A46: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26168012, PMID: 28376086; Phenotypes: Neuropathy, hereditary motor and sensory, type VIB (MIM#616505); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2045 MIR140 Zornitza Stark Marked gene: MIR140 as ready
Mendeliome v0.2045 MIR140 Zornitza Stark Gene: mir140 has been classified as Green List (High Evidence).
Mendeliome v0.2045 MIR140 Zornitza Stark Classified gene: MIR140 as Green List (high evidence)
Mendeliome v0.2045 MIR140 Zornitza Stark Gene: mir140 has been classified as Green List (High Evidence).
Mendeliome v0.2044 MIR140 Zornitza Stark gene: MIR140 was added
gene: MIR140 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: MIR140 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MIR140 were set to 30804514; 31633310
Phenotypes for gene: MIR140 were set to Spondyloepiphyseal dysplasia, Nishimura type, MIM# 618618
Review for gene: MIR140 was set to GREEN
Added comment: Single clinical paper (30804514) reports variant in affected mother and child (de novo in mother) and in a separate unrelated female (de novo) with spondylo-epiphyseal dysplasia. Mouse model (21576357) deletion of gene causes impaired longitudinal bone growth. Separate mouse model studies by same authors as clinical paper above (30804514) showed phenotype of mice with same mutation in this gene consistent with the skeletal dysplasia features of patients with the n.24A-G mutation, suggestive of neomorphic effects (mutation produces both loss-of-function and gain-of-function effects.)
Sources: Expert Review
Skeletal dysplasia v0.13 MIR140 Zornitza Stark Marked gene: MIR140 as ready
Skeletal dysplasia v0.13 MIR140 Zornitza Stark Gene: mir140 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.13 MIR140 Zornitza Stark Phenotypes for gene: MIR140 were changed from 618618 to Spondyloepiphyseal dysplasia, Nishimura type, MIM# 618618
Skeletal dysplasia v0.12 MIR140 Zornitza Stark Classified gene: MIR140 as Green List (high evidence)
Skeletal dysplasia v0.12 MIR140 Zornitza Stark Gene: mir140 has been classified as Green List (High Evidence).
Optic Atrophy v0.11 TIMM50 Crystle Lee reviewed gene: TIMM50: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27573165, PMID: 31058414; Phenotypes: 3-methylglutaconic aciduria, type IX (MIM#617698); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.11 MIR140 Chris Richmond gene: MIR140 was added
gene: MIR140 was added to Skeletal dysplasia. Sources: Expert Review
Mode of inheritance for gene: MIR140 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MIR140 were set to 30804514; 31633310
Phenotypes for gene: MIR140 were set to 618618
Penetrance for gene: MIR140 were set to unknown
Mode of pathogenicity for gene: MIR140 was set to Other
Review for gene: MIR140 was set to GREEN
Added comment: Single clinical paper (30804514) reports variant in affected mother and child (de novo in mother) and in a separate unrelated female (de novo) with spondylo-epiphyseal dysplasia. Mouse model (21576357) deletion of gene causes impaired longitudinal bone growth. Separate mouse model studies by same authors as clinical paper above (30804514) showed phenotype of mice with same mutation in this gene consistent with the skeletal dysplasia features of patients with the n.24A-G mutation, suggestive of neomorphic effects (mutation produces both loss-of-function and gain-of-function effects.)
Sources: Expert Review
Optic Atrophy v0.11 CCDC88A Elena Savva reviewed gene: CCDC88A: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 26917597, 30392057, 28899015; Phenotypes: ?PEHO syndrome-like; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.11 UCHL1 Crystle Lee reviewed gene: UCHL1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29735986, PMID: 23359680, PMID: 28007905; Phenotypes: Spastic paraplegia 79, autosomal recessive (MIM#615491); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.11 C12orf65 Elena Savva reviewed gene: C12orf65: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20598281, 23188110, 24198383; Phenotypes: Combined oxidative phosphorylation deficiency 7, Spastic paraplegia 55, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.11 AUH Elena Savva reviewed gene: AUH: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 20855850, 30143805, 31765440, 1594352; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.3 BLOC1S6 Zornitza Stark Classified gene: BLOC1S6 as Amber List (moderate evidence)
Ocular and Oculocutaneous Albinism v0.3 BLOC1S6 Zornitza Stark Gene: bloc1s6 has been classified as Amber List (Moderate Evidence).
Ocular and Oculocutaneous Albinism v0.2 BLOC1S6 Zornitza Stark reviewed gene: BLOC1S6: Rating: AMBER; Mode of pathogenicity: None; Publications: 22461475, 21665000, 32245340; Phenotypes: Hermansky-Pudlak syndrome 9, MIM# 614171; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.49 BLOC1S6 Zornitza Stark Marked gene: BLOC1S6 as ready
Disorders of immune dysregulation v0.49 BLOC1S6 Zornitza Stark Gene: bloc1s6 has been classified as Red List (Low Evidence).
Disorders of immune dysregulation v0.49 BLOC1S6 Zornitza Stark Phenotypes for gene: BLOC1S6 were changed from to Hermansky-Pudlak syndrome 9, MIM# 614171
Disorders of immune dysregulation v0.48 BLOC1S6 Zornitza Stark Publications for gene: BLOC1S6 were set to
Disorders of immune dysregulation v0.47 BLOC1S6 Zornitza Stark Mode of inheritance for gene: BLOC1S6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.46 BLOC1S6 Zornitza Stark Classified gene: BLOC1S6 as Red List (low evidence)
Disorders of immune dysregulation v0.46 BLOC1S6 Zornitza Stark Gene: bloc1s6 has been classified as Red List (Low Evidence).
Disorders of immune dysregulation v0.45 BLOC1S6 Zornitza Stark reviewed gene: BLOC1S6: Rating: RED; Mode of pathogenicity: None; Publications: 22461475, 21665000; Phenotypes: Hermansky-Pudlak syndrome 9, MIM# 614171; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2043 BCL10 Zornitza Stark reviewed gene: BCL10: Rating: GREEN; Mode of pathogenicity: None; Publications: 25365219, 32008135, 11163238, 12910267; Phenotypes: Immunodeficiency 37, MIM# 616098; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.105 BCL10 Zornitza Stark Marked gene: BCL10 as ready
Combined Immunodeficiency v0.105 BCL10 Zornitza Stark Gene: bcl10 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.105 BCL10 Zornitza Stark Phenotypes for gene: BCL10 were changed from to Immunodeficiency 37, MIM# 616098
Combined Immunodeficiency v0.104 BCL10 Zornitza Stark Publications for gene: BCL10 were set to
Combined Immunodeficiency v0.103 BCL10 Zornitza Stark Mode of inheritance for gene: BCL10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.102 BCL10 Zornitza Stark reviewed gene: BCL10: Rating: GREEN; Mode of pathogenicity: None; Publications: 25365219, 32008135, 11163238, 12910267; Phenotypes: Immunodeficiency 37, MIM# 616098; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.11 ATAD3A Elena Savva reviewed gene: ATAD3A: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 27640307, 28652416; Phenotypes: Harel-Yoon syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.2043 APOL1 Zornitza Stark Mode of inheritance for gene: APOL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2042 APOL1 Zornitza Stark Phenotypes for gene: APOL1 were changed from to {Glomerulosclerosis, focal segmental, 4, susceptibility to} 612551
Mendeliome v0.2041 APOL1 Zornitza Stark Publications for gene: APOL1 were set to
Mendeliome v0.2040 APOL1 Zornitza Stark Classified gene: APOL1 as Red List (low evidence)
Mendeliome v0.2040 APOL1 Zornitza Stark Gene: apol1 has been classified as Red List (Low Evidence).
Mendeliome v0.2039 APOL1 Zornitza Stark reviewed gene: APOL1: Rating: RED; Mode of pathogenicity: None; Publications: 29470556, 20647424, 24206458, 20635188; Phenotypes: {Glomerulosclerosis, focal segmental, 4, susceptibility to} 612551; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Defects of intrinsic and innate immunity v0.21 APOL1 Zornitza Stark Marked gene: APOL1 as ready
Defects of intrinsic and innate immunity v0.21 APOL1 Zornitza Stark Gene: apol1 has been classified as Red List (Low Evidence).
Defects of intrinsic and innate immunity v0.21 APOL1 Zornitza Stark Phenotypes for gene: APOL1 were changed from to {Glomerulosclerosis, focal segmental, 4, susceptibility to} 612551
Optic Atrophy v0.11 AP3B2 Elena Savva reviewed gene: AP3B2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27889060; Phenotypes: Early-onset epileptic encephalopathy with optic atrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.20 APOL1 Zornitza Stark Mode of inheritance for gene: APOL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Defects of intrinsic and innate immunity v0.19 APOL1 Zornitza Stark Classified gene: APOL1 as Red List (low evidence)
Defects of intrinsic and innate immunity v0.19 APOL1 Zornitza Stark Gene: apol1 has been classified as Red List (Low Evidence).
Defects of intrinsic and innate immunity v0.18 APOL1 Zornitza Stark reviewed gene: APOL1: Rating: RED; Mode of pathogenicity: None; Publications: 29470556; Phenotypes: {Glomerulosclerosis, focal segmental, 4, susceptibility to} 612551; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2039 AP1S3 Zornitza Stark Marked gene: AP1S3 as ready
Mendeliome v0.2039 AP1S3 Zornitza Stark Gene: ap1s3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2039 AP1S3 Zornitza Stark Phenotypes for gene: AP1S3 were changed from to {Psoriasis 15, pustular, susceptibility to} 616106
Mendeliome v0.2038 AP1S3 Zornitza Stark Publications for gene: AP1S3 were set to
Mendeliome v0.2037 AP1S3 Zornitza Stark Mode of inheritance for gene: AP1S3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2036 AP1S3 Zornitza Stark Classified gene: AP1S3 as Amber List (moderate evidence)
Mendeliome v0.2036 AP1S3 Zornitza Stark Gene: ap1s3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2035 AP1S3 Zornitza Stark reviewed gene: AP1S3: Rating: AMBER; Mode of pathogenicity: None; Publications: 24791904, 27388993; Phenotypes: {Psoriasis 15, pustular, susceptibility to} 616106; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.48 AP1S3 Zornitza Stark Marked gene: AP1S3 as ready
Autoinflammatory Disorders v0.48 AP1S3 Zornitza Stark Gene: ap1s3 has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v0.48 AP1S3 Zornitza Stark Phenotypes for gene: AP1S3 were changed from to {Psoriasis 15, pustular, susceptibility to} 616106
Autoinflammatory Disorders v0.47 AP1S3 Zornitza Stark Publications for gene: AP1S3 were set to 24791904; 27388993
Autoinflammatory Disorders v0.47 AP1S3 Zornitza Stark Publications for gene: AP1S3 were set to
Autoinflammatory Disorders v0.46 AP1S3 Zornitza Stark Mode of inheritance for gene: AP1S3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.45 AP1S3 Zornitza Stark Classified gene: AP1S3 as Amber List (moderate evidence)
Autoinflammatory Disorders v0.45 AP1S3 Zornitza Stark Gene: ap1s3 has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v0.44 AP1S3 Zornitza Stark reviewed gene: AP1S3: Rating: AMBER; Mode of pathogenicity: None; Publications: 24791904, 27388993; Phenotypes: {Psoriasis 15, pustular, susceptibility to} 616106; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Inflammatory bowel disease v0.13 ADAM17 Zornitza Stark Marked gene: ADAM17 as ready
Inflammatory bowel disease v0.13 ADAM17 Zornitza Stark Gene: adam17 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.13 ADAM17 Zornitza Stark Classified gene: ADAM17 as Green List (high evidence)
Inflammatory bowel disease v0.13 ADAM17 Zornitza Stark Gene: adam17 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.12 ADAM17 Zornitza Stark gene: ADAM17 was added
gene: ADAM17 was added to Inflammatory bowel disease. Sources: Expert Review
Mode of inheritance for gene: ADAM17 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAM17 were set to 22010916; 29560122; 26683521; 25804906
Phenotypes for gene: ADAM17 were set to Inflammatory skin and bowel disease, neonatal, 1, MIM# 614328; Recurrent infections
Review for gene: ADAM17 was set to GREEN
Added comment: Three unrelated families reported, inflammatory bowel disease was prominent in two; support from mouse model.
Sources: Expert Review
Autoinflammatory Disorders v0.44 ADAM17 Zornitza Stark Marked gene: ADAM17 as ready
Autoinflammatory Disorders v0.44 ADAM17 Zornitza Stark Gene: adam17 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.44 ADAM17 Zornitza Stark Phenotypes for gene: ADAM17 were changed from to Inflammatory skin and bowel disease, neonatal, 1, MIM# 614328; Recurrent infections
Autoinflammatory Disorders v0.43 ADAM17 Zornitza Stark Publications for gene: ADAM17 were set to
Autoinflammatory Disorders v0.42 ADAM17 Zornitza Stark Mode of inheritance for gene: ADAM17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v0.41 ADAM17 Zornitza Stark reviewed gene: ADAM17: Rating: GREEN; Mode of pathogenicity: None; Publications: 22010916, 29560122, 26683521, 25804906; Phenotypes: Inflammatory skin and bowel disease, neonatal, 1, MIM# 614328, Recurrent infections; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.32 ACTB Zornitza Stark Marked gene: ACTB as ready
Phagocyte Defects v0.32 ACTB Zornitza Stark Gene: actb has been classified as Amber List (Moderate Evidence).
Phagocyte Defects v0.32 ACTB Zornitza Stark Phenotypes for gene: ACTB were changed from to Baraitser-Winter syndrome 1, MIM# 243310
Phagocyte Defects v0.31 ACTB Zornitza Stark Mode of inheritance for gene: ACTB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phagocyte Defects v0.30 ACTB Zornitza Stark Classified gene: ACTB as Amber List (moderate evidence)
Phagocyte Defects v0.30 ACTB Zornitza Stark Gene: actb has been classified as Amber List (Moderate Evidence).
Phagocyte Defects v0.29 ACTB Zornitza Stark reviewed gene: ACTB: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Baraitser-Winter syndrome 1, MIM# 243310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Familial hypercholesterolaemia v0.7 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Hereditary Spastic Paraplegia v0.7 Bryony Thompson Panel name changed from Hereditary Spastic Paraplegia - paediatric_RMH to Hereditary Spastic Paraplegia - paediatric
Panel types changed to Royal Melbourne Hospital; Rare Disease
Gastrointestinal neuromuscular disease v0.1 Bryony Thompson Panel name changed from Visceral Myopathy_RMH to Visceral Myopathy
Panel status changed from internal to public
Panel types changed to Royal Melbourne Hospital; Rare Disease
Congenital Stationary Night Blindness v0.1 Bryony Thompson Panel name changed from Congenital Stationary Night Blindness_RMH to Congenital Stationary Night Blindness
Cataract v0.107 TMEM70 Bryony Thompson Marked gene: TMEM70 as ready
Cataract v0.107 TMEM70 Bryony Thompson Gene: tmem70 has been classified as Amber List (Moderate Evidence).
Cataract v0.107 TMEM70 Bryony Thompson Classified gene: TMEM70 as Amber List (moderate evidence)
Cataract v0.107 TMEM70 Bryony Thompson Gene: tmem70 has been classified as Amber List (Moderate Evidence).
Cataract v0.106 TMEM70 Bryony Thompson gene: TMEM70 was added
gene: TMEM70 was added to Cataract. Sources: Expert list
Mode of inheritance for gene: TMEM70 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM70 were set to 21147908; 23235116; 27454254
Phenotypes for gene: TMEM70 were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 MIM#614052
Review for gene: TMEM70 was set to AMBER
Added comment: Four cases from three unrelated consanguineous families with two different variants, with cataracts as a feature of the condition.
Sources: Expert list
Phagocyte Defects v0.29 CFTR Zornitza Stark Marked gene: CFTR as ready
Phagocyte Defects v0.29 CFTR Zornitza Stark Gene: cftr has been classified as Green List (High Evidence).
Phagocyte Defects v0.29 CFTR Zornitza Stark Classified gene: CFTR as Green List (high evidence)
Phagocyte Defects v0.29 CFTR Zornitza Stark Gene: cftr has been classified as Green List (High Evidence).
Phagocyte Defects v0.28 CFTR Zornitza Stark gene: CFTR was added
gene: CFTR was added to Phagocyte Defects. Sources: Expert list
Mode of inheritance for gene: CFTR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFTR were set to Cystic fibrosis, MIM# 219700
Review for gene: CFTR was set to GREEN
Added comment: Although CF is mostly detected through newborn screening, some adults with milder phenotypes can present with recurrent respiratory infections.
Sources: Expert list
Dystonia and Chorea v0.58 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Cataract v0.105 TTC37 Bryony Thompson Marked gene: TTC37 as ready
Cataract v0.105 TTC37 Bryony Thompson Gene: ttc37 has been classified as Red List (Low Evidence).
Cataract v0.105 TTC37 Bryony Thompson Classified gene: TTC37 as Red List (low evidence)
Cataract v0.105 TTC37 Bryony Thompson Gene: ttc37 has been classified as Red List (Low Evidence).
Cataract v0.104 TTC37 Bryony Thompson reviewed gene: TTC37: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Trichohepatoenteric syndrome 1 MIM#222470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2035 KCNT2 Zornitza Stark Phenotypes for gene: KCNT2 were changed from Epileptic encephalopathy, early infantile, 57, MIM#617771; Developmental and epileptic encephalopathy to Epileptic encephalopathy, early infantile, 57, MIM#617771; Developmental and epileptic encephalopathy; Epilepsy of infancy with migrating focal seizures (EIMFS)
Mendeliome v0.2034 KCNT2 Zornitza Stark Publications for gene: KCNT2 were set to 29069600; 29740868
Usher Syndrome v0.7 USH2A Zornitza Stark Marked gene: USH2A as ready
Usher Syndrome v0.7 USH2A Zornitza Stark Gene: ush2a has been classified as Green List (High Evidence).
Usher Syndrome v0.7 USH2A Zornitza Stark Publications for gene: USH2A were set to
Cataract v0.104 WAS Bryony Thompson Marked gene: WAS as ready
Cataract v0.104 WAS Bryony Thompson Gene: was has been classified as Red List (Low Evidence).
Cataract v0.104 WAS Bryony Thompson Classified gene: WAS as Red List (low evidence)
Cataract v0.104 WAS Bryony Thompson Gene: was has been classified as Red List (Low Evidence).
Cataract v0.103 WAS Bryony Thompson reviewed gene: WAS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Wiskott-Aldrich syndrome MIM#301000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cataract v0.103 XIAP Bryony Thompson Marked gene: XIAP as ready
Cataract v0.103 XIAP Bryony Thompson Gene: xiap has been classified as Red List (Low Evidence).
Cataract v0.103 XIAP Bryony Thompson Classified gene: XIAP as Red List (low evidence)
Cataract v0.103 XIAP Bryony Thompson Gene: xiap has been classified as Red List (Low Evidence).
Cataract v0.102 XIAP Bryony Thompson reviewed gene: XIAP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lymphoproliferative syndrome, X-linked, 2 MIM#300635; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cataract v0.102 ZAP70 Bryony Thompson Marked gene: ZAP70 as ready
Cataract v0.102 ZAP70 Bryony Thompson Gene: zap70 has been classified as Red List (Low Evidence).
Cataract v0.102 ZAP70 Bryony Thompson Classified gene: ZAP70 as Red List (low evidence)
Cataract v0.102 ZAP70 Bryony Thompson Gene: zap70 has been classified as Red List (Low Evidence).
Cataract v0.101 ZAP70 Bryony Thompson reviewed gene: ZAP70: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoimmune disease, multisystem, infantile-onset, 2 MIM#617006, Immunodeficiency 48 MIM#269840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Usher Syndrome v0.6 USH2A Chern Lim reviewed gene: USH2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 26927203, 22135276; Phenotypes: Retinitis pigmentosa 39, MIM#613809, Usher syndrome, type 2A, MIM#276901; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Macrocystic Disease v0.25 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; KidGen; Royal Melbourne Hospital; Rare Disease
Mendeliome v0.2033 KCNT2 Kristin Rigbye reviewed gene: KCNT2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29069600, 29740868, 32038177; Phenotypes: Epileptic encephalopathy, early infantile, 57, 617771, Epilepsy of infancy with migrating focal seizures (EIMFS); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.4 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Cataract v0.101 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Cataract v0.100 BTK Zornitza Stark Marked gene: BTK as ready
Cataract v0.100 BTK Zornitza Stark Gene: btk has been classified as Red List (Low Evidence).
Cataract v0.100 BTK Zornitza Stark Phenotypes for gene: BTK were changed from to X-linked agammaglobulinemia; isolated growth hormone deficiency type III with agammaglobulinemia
Cataract v0.99 BTK Zornitza Stark Mode of inheritance for gene: BTK was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cataract v0.98 BTK Zornitza Stark Classified gene: BTK as Red List (low evidence)
Cataract v0.98 BTK Zornitza Stark Gene: btk has been classified as Red List (Low Evidence).
Cataract v0.97 HPS1 Zornitza Stark Marked gene: HPS1 as ready
Cataract v0.97 HPS1 Zornitza Stark Gene: hps1 has been classified as Amber List (Moderate Evidence).
Cataract v0.97 HPS1 Zornitza Stark Phenotypes for gene: HPS1 were changed from to Hermansky-Pudlak syndrome 1 (203300)
Cataract v0.96 HPS1 Zornitza Stark Publications for gene: HPS1 were set to
Cataract v0.95 HPS1 Zornitza Stark Mode of inheritance for gene: HPS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.94 HPS1 Zornitza Stark Classified gene: HPS1 as Amber List (moderate evidence)
Cataract v0.94 HPS1 Zornitza Stark Gene: hps1 has been classified as Amber List (Moderate Evidence).
Cataract v0.93 HPS4 Zornitza Stark Marked gene: HPS4 as ready
Cataract v0.93 HPS4 Zornitza Stark Gene: hps4 has been classified as Amber List (Moderate Evidence).
Cataract v0.93 HPS4 Zornitza Stark Phenotypes for gene: HPS4 were changed from to Hermansky-Pudlak syndrome 4 (614073)
Cataract v0.92 HPS4 Zornitza Stark Publications for gene: HPS4 were set to
Cataract v0.91 HPS4 Zornitza Stark Mode of inheritance for gene: HPS4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.90 HPS4 Zornitza Stark Classified gene: HPS4 as Amber List (moderate evidence)
Cataract v0.90 HPS4 Zornitza Stark Gene: hps4 has been classified as Amber List (Moderate Evidence).
Cataract v0.89 HPS6 Zornitza Stark Marked gene: HPS6 as ready
Cataract v0.89 HPS6 Zornitza Stark Gene: hps6 has been classified as Amber List (Moderate Evidence).
Cataract v0.89 HPS6 Zornitza Stark Phenotypes for gene: HPS6 were changed from to Hermansky-Pudlak syndrome 6 (614075)
Cataract v0.88 HPS6 Zornitza Stark Publications for gene: HPS6 were set to
Cataract v0.87 HPS6 Zornitza Stark Mode of inheritance for gene: HPS6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.86 HPS6 Zornitza Stark Classified gene: HPS6 as Amber List (moderate evidence)
Cataract v0.86 HPS6 Zornitza Stark Gene: hps6 has been classified as Amber List (Moderate Evidence).
Cataract v0.85 HTRA2 Zornitza Stark Marked gene: HTRA2 as ready
Cataract v0.85 HTRA2 Zornitza Stark Gene: htra2 has been classified as Green List (High Evidence).
Cataract v0.85 HTRA2 Zornitza Stark Classified gene: HTRA2 as Green List (high evidence)
Cataract v0.85 HTRA2 Zornitza Stark Gene: htra2 has been classified as Green List (High Evidence).
Cataract v0.84 ICOS Zornitza Stark Marked gene: ICOS as ready
Cataract v0.84 ICOS Zornitza Stark Gene: icos has been classified as Red List (Low Evidence).
Cataract v0.84 ICOS Zornitza Stark Phenotypes for gene: ICOS were changed from to Common variable immunodeficiency 1 (604558)
Cataract v0.83 ICOS Zornitza Stark Mode of inheritance for gene: ICOS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.82 ICOS Zornitza Stark Classified gene: ICOS as Red List (low evidence)
Cataract v0.82 ICOS Zornitza Stark Gene: icos has been classified as Red List (Low Evidence).
Cataract v0.81 IKBKG Zornitza Stark Marked gene: IKBKG as ready
Cataract v0.81 IKBKG Zornitza Stark Gene: ikbkg has been classified as Amber List (Moderate Evidence).
Cataract v0.81 IKBKG Zornitza Stark Phenotypes for gene: IKBKG were changed from to Incontinentia pigmenti (308300); / Ectodermal dysplasia and immunodeficiency 1 (300291); Ectodermal dysplasia, anhidrotic, lymphoedema and immunodeficiency (300301); Immunodeficiency 33 (300636); Immunodeficiency, isolated (300584); Invasive pneumococcal disease, recurrent isolated 2 (300640)
Cataract v0.80 IKBKG Zornitza Stark Publications for gene: IKBKG were set to
Cataract v0.79 IKBKG Zornitza Stark Mode of inheritance for gene: IKBKG was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Cataract v0.78 IKBKG Zornitza Stark Classified gene: IKBKG as Amber List (moderate evidence)
Cataract v0.78 IKBKG Zornitza Stark Gene: ikbkg has been classified as Amber List (Moderate Evidence).
Cataract v0.77 IL10 Zornitza Stark Marked gene: IL10 as ready
Cataract v0.77 IL10 Zornitza Stark Gene: il10 has been classified as Red List (Low Evidence).
Cataract v0.77 IL10 Zornitza Stark Classified gene: IL10 as Red List (low evidence)
Cataract v0.77 IL10 Zornitza Stark Gene: il10 has been classified as Red List (Low Evidence).
Cataract v0.76 IL10RA Zornitza Stark Marked gene: IL10RA as ready
Cataract v0.76 IL10RA Zornitza Stark Gene: il10ra has been classified as Red List (Low Evidence).
Cataract v0.76 IL10RA Zornitza Stark Phenotypes for gene: IL10RA were changed from to Inflammatory bowel disease 28, early onset (613148)
Cataract v0.75 IL10RA Zornitza Stark Mode of inheritance for gene: IL10RA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.74 IL10RA Zornitza Stark Classified gene: IL10RA as Red List (low evidence)
Cataract v0.74 IL10RA Zornitza Stark Gene: il10ra has been classified as Red List (Low Evidence).
Mendeliome v0.2033 PIEZO1 Zornitza Stark Marked gene: PIEZO1 as ready
Mendeliome v0.2033 PIEZO1 Zornitza Stark Gene: piezo1 has been classified as Green List (High Evidence).
Mendeliome v0.2033 PIEZO1 Zornitza Stark Publications for gene: PIEZO1 were set to
Mendeliome v0.2032 PIEZO1 Zornitza Stark Phenotypes for gene: PIEZO1 were changed from to Lymphatic malformation 6, 616843; Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380
Mendeliome v0.2031 PIEZO1 Zornitza Stark Mode of pathogenicity for gene: PIEZO1 was changed from to Other
Mendeliome v0.2030 PIEZO1 Zornitza Stark Mode of inheritance for gene: PIEZO1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2029 TBX19 Zornitza Stark Marked gene: TBX19 as ready
Mendeliome v0.2029 TBX19 Zornitza Stark Gene: tbx19 has been classified as Green List (High Evidence).
Mendeliome v0.2029 TBX19 Zornitza Stark Phenotypes for gene: TBX19 were changed from to Adrenocorticotropic hormone deficiency, 201400
Mendeliome v0.2028 TBX19 Zornitza Stark Publications for gene: TBX19 were set to
Mendeliome v0.2027 TBX19 Zornitza Stark Mode of inheritance for gene: TBX19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.73 IL10RB Zornitza Stark Marked gene: IL10RB as ready
Cataract v0.73 IL10RB Zornitza Stark Gene: il10rb has been classified as Red List (Low Evidence).
Cataract v0.73 IL10RB Zornitza Stark Phenotypes for gene: IL10RB were changed from to Inflammatory bowel disease 25, early onset (612567)
Cataract v0.72 IL10RB Zornitza Stark Mode of inheritance for gene: IL10RB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.71 IL10RB Zornitza Stark Classified gene: IL10RB as Red List (low evidence)
Cataract v0.71 IL10RB Zornitza Stark Gene: il10rb has been classified as Red List (Low Evidence).
Cataract v0.70 IL2RG Zornitza Stark Marked gene: IL2RG as ready
Cataract v0.70 IL2RG Zornitza Stark Gene: il2rg has been classified as Red List (Low Evidence).
Cataract v0.70 IL2RG Zornitza Stark Phenotypes for gene: IL2RG were changed from to Severe combined immunodeficiency, X-linked (300400); Moderate combined immunodeficiency, X-linked (312863)
Cataract v0.69 IL2RG Zornitza Stark Mode of inheritance for gene: IL2RG was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cataract v0.68 IL2RG Zornitza Stark Classified gene: IL2RG as Red List (low evidence)
Cataract v0.68 IL2RG Zornitza Stark Gene: il2rg has been classified as Red List (Low Evidence).
Haem degradation and bilirubin metabolism defects v0.1 Bryony Thompson Panel name changed from Porphyria_RMH to Porphyria
Panel status changed from internal to public
Panel types changed to Royal Melbourne Hospital; Rare Disease
Overgrowth v0.19 TCF20 Zornitza Stark Marked gene: TCF20 as ready
Overgrowth v0.19 TCF20 Zornitza Stark Gene: tcf20 has been classified as Amber List (Moderate Evidence).
Overgrowth v0.19 TCF20 Zornitza Stark Phenotypes for gene: TCF20 were changed from to Developmental delay with variable intellectual impairment and behavioral abnormalities, AD, MIM#618430
Overgrowth v0.18 TCF20 Zornitza Stark Publications for gene: TCF20 were set to
Overgrowth v0.17 TCF20 Zornitza Stark Mode of inheritance for gene: TCF20 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.16 TCF20 Zornitza Stark Classified gene: TCF20 as Amber List (moderate evidence)
Overgrowth v0.16 TCF20 Zornitza Stark Gene: tcf20 has been classified as Amber List (Moderate Evidence).
Overgrowth v0.15 TCF20 Zornitza Stark reviewed gene: TCF20: Rating: AMBER; Mode of pathogenicity: None; Publications: 30739909, 30819258, 25228304; Phenotypes: Developmental delay with variable intellectual impairment and behavioral abnormalities, AD, MIM#618430; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2515 TCF20 Zornitza Stark Marked gene: TCF20 as ready
Intellectual disability syndromic and non-syndromic v0.2515 TCF20 Zornitza Stark Gene: tcf20 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.57 XK Bryony Thompson Marked gene: XK as ready
Dystonia and Chorea v0.57 XK Bryony Thompson Gene: xk has been classified as Green List (High Evidence).
Dystonia and Chorea v0.57 XK Bryony Thompson Classified gene: XK as Green List (high evidence)
Dystonia and Chorea v0.57 XK Bryony Thompson Gene: xk has been classified as Green List (High Evidence).
Dystonia and Chorea v0.56 XK Bryony Thompson gene: XK was added
gene: XK was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: XK 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: XK were set to 11761473
Phenotypes for gene: XK were set to McLeod syndrome with or without chronic granulomatous disease MIM#300842
Review for gene: XK was set to GREEN
Added comment: 5 out of 13 cases had dystonia as a feature of the condition.
Sources: Expert list
Dystonia and Chorea v0.55 VPS37A Bryony Thompson gene: VPS37A was added
gene: VPS37A was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: VPS37A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS37A were set to 22717650
Phenotypes for gene: VPS37A were set to Spastic paraplegia 53, autosomal recessive MIM#614898
Review for gene: VPS37A was set to RED
Added comment: Single consanguineous Arab Moslem kindred with dystonia as a feature of the condition.
Sources: Expert list
Dystonia and Chorea v0.54 UNC80 Bryony Thompson gene: UNC80 was added
gene: UNC80 was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: UNC80 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UNC80 were set to 26545877
Phenotypes for gene: UNC80 were set to hypotonia; severe intellectual disability; dyskinesia; dysmorphism
Review for gene: UNC80 was set to RED
Added comment: Two consanguineous Bedouin Israeli families homozygous for the same variantc.151C>T, p.(R51*) with dystonia as a feature of the condition. No other reported evidence for dystonia in the context of this condition.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2515 TCF20 Zornitza Stark Phenotypes for gene: TCF20 were changed from to Developmental delay with variable intellectual impairment and behavioral abnormalities, AD, MIM#618430
Intellectual disability syndromic and non-syndromic v0.2514 TCF20 Zornitza Stark Publications for gene: TCF20 were set to
Intellectual disability syndromic and non-syndromic v0.2513 TCF20 Zornitza Stark Mode of inheritance for gene: TCF20 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2512 TCF20 Zornitza Stark reviewed gene: TCF20: Rating: GREEN; Mode of pathogenicity: None; Publications: 30739909, 30819258, 25228304; Phenotypes: Developmental delay with variable intellectual impairment and behavioral abnormalities, AD, MIM#618430; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2026 TCF20 Zornitza Stark Marked gene: TCF20 as ready
Mendeliome v0.2026 TCF20 Zornitza Stark Gene: tcf20 has been classified as Green List (High Evidence).
Mendeliome v0.2026 TCF20 Zornitza Stark Phenotypes for gene: TCF20 were changed from to Developmental delay with variable intellectual impairment and behavioral abnormalities, AD, MIM#618430
Mendeliome v0.2025 TCF20 Zornitza Stark Publications for gene: TCF20 were set to
Mendeliome v0.2024 TCF20 Zornitza Stark Mode of inheritance for gene: TCF20 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.67 ITGB2 Zornitza Stark Marked gene: ITGB2 as ready
Cataract v0.67 ITGB2 Zornitza Stark Gene: itgb2 has been classified as Red List (Low Evidence).
Cataract v0.67 ITGB2 Zornitza Stark Phenotypes for gene: ITGB2 were changed from to Leukocyte adhesion deficiency (MIM# 116920)
Cataract v0.66 ITGB2 Zornitza Stark Mode of inheritance for gene: ITGB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.65 ITGB2 Zornitza Stark Classified gene: ITGB2 as Red List (low evidence)
Cataract v0.65 ITGB2 Zornitza Stark Gene: itgb2 has been classified as Red List (Low Evidence).
Cataract v0.64 LARGE1 Zornitza Stark Marked gene: LARGE1 as ready
Cataract v0.64 LARGE1 Zornitza Stark Gene: large1 has been classified as Amber List (Moderate Evidence).
Cataract v0.64 LARGE1 Zornitza Stark Phenotypes for gene: LARGE1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 6 (MIM# 613154); Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 (MIM# 608840)
Cataract v0.63 LARGE1 Zornitza Stark Publications for gene: LARGE1 were set to
Cataract v0.62 LARGE1 Zornitza Stark Mode of inheritance for gene: LARGE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.61 LARGE1 Zornitza Stark Classified gene: LARGE1 as Amber List (moderate evidence)
Cataract v0.61 LARGE1 Zornitza Stark Gene: large1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.646 TFE3 Zornitza Stark Marked gene: TFE3 as ready
Genetic Epilepsy v0.646 TFE3 Zornitza Stark Gene: tfe3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.646 TFE3 Zornitza Stark Classified gene: TFE3 as Green List (high evidence)
Genetic Epilepsy v0.646 TFE3 Zornitza Stark Gene: tfe3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.645 TFE3 Zornitza Stark gene: TFE3 was added
gene: TFE3 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: TFE3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TFE3 were set to 30595499; 31833172
Phenotypes for gene: TFE3 were set to TFE3-associated neurodevelopmental disorder; Intellectual disability; Epilepsy; Coarse facial features
Review for gene: TFE3 was set to GREEN
Added comment: Seven individuals reported; so far, all have been found to harbour de novo variants affecting exons 3 or 4.
Sources: Expert list
Mendeliome v0.2023 TFE3 Zornitza Stark Marked gene: TFE3 as ready
Mendeliome v0.2023 TFE3 Zornitza Stark Gene: tfe3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2512 TFE3 Zornitza Stark Marked gene: TFE3 as ready
Intellectual disability syndromic and non-syndromic v0.2512 TFE3 Zornitza Stark Gene: tfe3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2512 TFE3 Zornitza Stark Classified gene: TFE3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2512 TFE3 Zornitza Stark Gene: tfe3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2511 TFE3 Zornitza Stark gene: TFE3 was added
gene: TFE3 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: TFE3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TFE3 were set to 30595499; 31833172
Phenotypes for gene: TFE3 were set to TFE3-associated neurodevelopmental disorder; Intellectual disability; Epilepsy; Coarse facial features
Review for gene: TFE3 was set to GREEN
Added comment: Seven individuals reported; so far, all have been found to harbour de novo variants affecting exons 3 or 4.
Sources: Expert list
Mendeliome v0.2023 TFE3 Zornitza Stark Phenotypes for gene: TFE3 were changed from to TFE3-associated neurodevelopmental disorder; Intellectual disability; Epilepsy; Coarse facial features
Mendeliome v0.2022 TFE3 Zornitza Stark Publications for gene: TFE3 were set to
Mendeliome v0.2021 TFE3 Zornitza Stark Mode of inheritance for gene: TFE3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2020 TFE3 Zornitza Stark reviewed gene: TFE3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30595499, 31833172; Phenotypes: TFE3-associated neurodevelopmental disorder, Intellectual disability, Epilepsy, Coarse facial features; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2020 ICOSLG Zornitza Stark Marked gene: ICOSLG as ready
Mendeliome v0.2020 ICOSLG Zornitza Stark Gene: icoslg has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2020 ICOSLG Zornitza Stark Phenotypes for gene: ICOSLG were changed from to Combined immunodeficiency; recurrent bacterial and viral infections; neutropaenia
Mendeliome v0.2019 ICOSLG Zornitza Stark Publications for gene: ICOSLG were set to
Mendeliome v0.2018 ICOSLG Zornitza Stark Mode of inheritance for gene: ICOSLG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2017 ICOSLG Zornitza Stark Classified gene: ICOSLG as Amber List (moderate evidence)
Mendeliome v0.2017 ICOSLG Zornitza Stark Gene: icoslg has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2016 ICOSLG Zornitza Stark reviewed gene: ICOSLG: Rating: AMBER; Mode of pathogenicity: None; Publications: 31532372, 30498080; Phenotypes: Combined immunodeficiency, recurrent bacterial and viral infections, neutropaenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dystonia and Chorea v0.53 TREX1 Bryony Thompson Marked gene: TREX1 as ready
Dystonia and Chorea v0.53 TREX1 Bryony Thompson Gene: trex1 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.53 TREX1 Bryony Thompson Classified gene: TREX1 as Green List (high evidence)
Dystonia and Chorea v0.53 TREX1 Bryony Thompson Gene: trex1 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.52 TREX1 Bryony Thompson gene: TREX1 was added
gene: TREX1 was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: TREX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TREX1 were set to 20131292
Phenotypes for gene: TREX1 were set to Aicardi-Goutieres syndrome 1, dominant and recessive MIM#225750
Review for gene: TREX1 was set to GREEN
Added comment: 7 unrelated cases with dystonia as a feature of the condition, 6 biallelic and 1 de novo.
Sources: Expert list
Dystonia and Chorea v0.51 TOR1AIP1 Bryony Thompson reviewed gene: TOR1AIP1: Rating: RED; Mode of pathogenicity: None; Publications: 25425325; Phenotypes: Dystonia, Cerebellar Atrophy, Cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2016 TCF20 Chern Lim reviewed gene: TCF20: Rating: GREEN; Mode of pathogenicity: None; Publications: 30739909, 30819258, 25228304; Phenotypes: Developmental delay with variable intellectual impairment and behavioral abnormalities, AD, MIM#618430; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dystonia and Chorea v0.51 SYT1 Bryony Thompson Classified gene: SYT1 as Green List (high evidence)
Dystonia and Chorea v0.51 SYT1 Bryony Thompson Gene: syt1 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.50 SYT1 Bryony Thompson gene: SYT1 was added
gene: SYT1 was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: SYT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SYT1 were set to 30107533
Phenotypes for gene: SYT1 were set to Baker-Gordon syndrome MIM#618218
Review for gene: SYT1 was set to GREEN
Added comment: 4 out of 11 cases with a de novo variant had dystonia as a feature of the phenotype.
Sources: Expert list
Cataract v0.60 LARGE1 Lauren Akesson reviewed gene: LARGE1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID 17436019; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 6 (MIM# 613154), Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 (MIM# 608840); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dystonia and Chorea v0.49 SUOX Bryony Thompson Classified gene: SUOX as Green List (high evidence)
Dystonia and Chorea v0.49 SUOX Bryony Thompson Gene: suox has been classified as Green List (High Evidence).
Dystonia and Chorea v0.48 SUOX Bryony Thompson gene: SUOX was added
gene: SUOX was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: SUOX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUOX were set to 9600976; 28933809; 16140720
Phenotypes for gene: SUOX were set to Sulfite oxidase deficiency MIM#272300
Review for gene: SUOX was set to GREEN
Added comment: Dystonia is a feature of late-onset isolated sulfite oxidase deficiency. At least 6 cases reported with dystonia as a feature of the condition.
Sources: Expert list
Cataract v0.60 ITGB2 Lauren Akesson reviewed gene: ITGB2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukocyte adhesion deficiency (MIM# 116920); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dystonia and Chorea v0.47 SNORD118 Bryony Thompson Classified gene: SNORD118 as Green List (high evidence)
Dystonia and Chorea v0.47 SNORD118 Bryony Thompson Gene: snord118 has been classified as Green List (High Evidence).
Cataract v0.60 INTS1 Lauren Akesson reviewed gene: INTS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies (618571); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dystonia and Chorea v0.46 SNORD118 Bryony Thompson gene: SNORD118 was added
gene: SNORD118 was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: SNORD118 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNORD118 were set to 27571260
Phenotypes for gene: SNORD118 were set to Leukoencephalopathy, brain calcifications, and cysts MIM#614561
Review for gene: SNORD118 was set to GREEN
Added comment: At least 6 cases/families reported with dystonia as a feature of the condition.
Sources: Expert list
Cataract v0.60 IL2RG Lauren Akesson reviewed gene: IL2RG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Severe combined immunodeficiency, X-linked (300400), Moderate combined immunodeficiency, X-linked (312863); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Cataract v0.60 IL2RG Lauren Akesson Deleted their review
Cataract v0.60 IL2RG Lauren Akesson reviewed gene: IL2RG: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Severe combined immunodeficiency (X-linked) (300400), Moderate combined immunodeficiency (X-linked) (312863); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Cataract v0.60 IL10RB Lauren Akesson reviewed gene: IL10RB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Inflammatory bowel disease 25, early onset (612567); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dystonia and Chorea v0.45 SAMHD1 Bryony Thompson Classified gene: SAMHD1 as Amber List (moderate evidence)
Dystonia and Chorea v0.45 SAMHD1 Bryony Thompson Gene: samhd1 has been classified as Amber List (Moderate Evidence).
Dystonia and Chorea v0.44 SAMHD1 Bryony Thompson gene: SAMHD1 was added
gene: SAMHD1 was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SAMHD1 were set to 20131292
Phenotypes for gene: SAMHD1 were set to Aicardi-Goutieres syndrome 5 MIM#612952
Review for gene: SAMHD1 was set to AMBER
Added comment: Two unrelated cases reported with dystonia as a feature of the condition.
Sources: Expert list
Dystonia and Chorea v0.43 RNASEH2C Bryony Thompson Classified gene: RNASEH2C as Green List (high evidence)
Dystonia and Chorea v0.43 RNASEH2C Bryony Thompson Gene: rnaseh2c has been classified as Green List (High Evidence).
Dystonia and Chorea v0.42 RNASEH2C Bryony Thompson gene: RNASEH2C was added
gene: RNASEH2C was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: RNASEH2C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNASEH2C were set to 20131292; 23322642
Phenotypes for gene: RNASEH2C were set to Aicardi-Goutieres syndrome 3 MIM#610329
Review for gene: RNASEH2C was set to GREEN
Added comment: Three unrelated cases with dystonia as a feature of the condition.
Sources: Expert list
Dystonia and Chorea v0.41 RNASEH2B Bryony Thompson Classified gene: RNASEH2B as Green List (high evidence)
Dystonia and Chorea v0.41 RNASEH2B Bryony Thompson Gene: rnaseh2b has been classified as Green List (High Evidence).
Dystonia and Chorea v0.40 RNASEH2B Bryony Thompson gene: RNASEH2B was added
gene: RNASEH2B was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNASEH2B were set to 20131292; 26860721
Phenotypes for gene: RNASEH2B were set to Aicardi-Goutieres syndrome 2 MIM#610181
Review for gene: RNASEH2B was set to GREEN
Added comment: 3 or 4 cases with biallelic variants (one of the publications in Spanish and unsure if both cases have dystonia) with dystonia as a feature of the condition. Two other cases with dystonia as a feature, but only a single heterozygous variant was identified.
Sources: Expert list
Dystonia and Chorea v0.39 RNASEH2A Bryony Thompson gene: RNASEH2A was added
gene: RNASEH2A was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: RNASEH2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNASEH2A were set to 20131292
Phenotypes for gene: RNASEH2A were set to Aicardi-Goutieres syndrome 4 MIM#610333
Review for gene: RNASEH2A was set to RED
Added comment: Single case reported with dystonia as a feature of the condition.
Sources: Expert list
Early-onset Parkinson disease v0.28 PODXL Bryony Thompson gene: PODXL was added
gene: PODXL was added to Early-onset Parkinson disease. Sources: Literature
Mode of inheritance for gene: PODXL was set to Unknown
Publications for gene: PODXL were set to 26864383; 20706633
Phenotypes for gene: PODXL were set to juvenile-onset Parkinson disease
Review for gene: PODXL was set to AMBER
Added comment: Single consanguineous Indian family reported with a homozygous loss of function variant. A Podxl null mouse model has aberrant neurite length and number of branching points, and also evidence of impaired synaptogenesis. Subsequent screening in 280 Parkinson disease patients with various ages of onset identified 3 heterozygous missense variants (P429T, S373N, and R294Q; all numbering according to isoform 2), absent in gnomAD. Transfection of the missense variants into PC12 cells resulted in variable aberrant neurite length and/or branching, suggesting a functional effect. However, there is more evidence supporting the association of monoallelic and biallelic variants with FSGS (see Proteinuria panel). There was no renal symptoms present in the reported family, which had renal function tests.
Sources: Literature
Combined Immunodeficiency v0.102 FOXN1 Zornitza Stark Publications for gene: FOXN1 were set to
Severe Combined Immunodeficiency v0.16 Zornitza Stark removed gene:FOXN1 from the panel
Combined Immunodeficiency v0.101 FOXN1 Zornitza Stark Mode of inheritance for gene: FOXN1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Combined Immunodeficiency v0.100 FOXN1 Zornitza Stark reviewed gene: FOXN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31447097, 18339010, 10206641; Phenotypes: T-cell immunodeficiency, congenital alopecia, and nail dystrophy, autosomal recessive MIM# 601705, T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominan, MIM#t 618806; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Combined Immunodeficiency v0.15 FOXN1 Zornitza Stark gene: FOXN1 was added
gene: FOXN1 was added to Severe Combined Immunodeficiency (absent T present B cells). Sources: Literature
Mode of inheritance for gene: FOXN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXN1 were set to 31447097
Phenotypes for gene: FOXN1 were set to Severe T cell lymphopaenia; Low TRECs
Review for gene: FOXN1 was set to GREEN
Added comment: 47 individuals reported. 21 newborns identified as part of SCID newborn screening had low levels of T cell receptor excision circles (TRECs) and T cell lymphopenia at birth. Adult individuals with heterozygous FOXN1 variants had in most cases normal CD4+ but lower than normal CD8+ cell counts.
Sources: Literature
Mendeliome v0.2016 IL6ST Zornitza Stark Phenotypes for gene: IL6ST were changed from Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM# 618523; Stuve-Wiedemann-like syndrome: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response. to Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM# 618523; Stuve-Wiedemann-like syndrome: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response; Hyper-IgE syndrome, autosomal dominant
Mendeliome v0.2015 IL6ST Zornitza Stark Publications for gene: IL6ST were set to 28747427; 30309848; 12370259; 16041381; 31914175
Mendeliome v0.2014 IL6ST Zornitza Stark Mode of inheritance for gene: IL6ST was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2013 IL6ST Zornitza Stark changed review comment from: Also known as gp130. Two families with bi-allelic missense variants and immunological phenotype described initially. More recently, five individuals from three families reported with a more complex Stuve-Wiedemann-like phenotype reported, including skeletal dysplasia and neonatal lung dysfunction with additional features such as congenital thrombocytopenia, eczematoid dermatitis, renal abnormalities, and defective acute-phase response. These three families had bi-allelic LoF variants (nonsense and canonical splice site). Several mouse models support gene-disease association.
Sources: Expert list; to: Also known as gp130. Two families with bi-allelic missense variants and immunological phenotype described initially. More recently, five individuals from three families reported with a more complex Stuve-Wiedemann-like phenotype reported, including skeletal dysplasia and neonatal lung dysfunction with additional features such as congenital thrombocytopenia, eczematoid dermatitis, renal abnormalities, and defective acute-phase response. These three families had bi-allelic LoF variants (nonsense and canonical splice site). Several mouse models support gene-disease association.
2020: 12 individuals from 8 unrelated families with seven different mono-allelic truncating variants, dominant negative effect proposed.
Sources: Expert list
Mendeliome v0.2013 IL6ST Zornitza Stark edited their review of gene: IL6ST: Changed publications: 28747427, 30309848, 12370259, 16041381, 31914175, 32207811; Changed phenotypes: Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM# 618523, Stuve-Wiedemann-like syndrome: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response, Hyper-IgE syndrome, autosomal dominant; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Combined Immunodeficiency v0.100 IL6ST Zornitza Stark Phenotypes for gene: IL6ST were changed from Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM# 618523; Stuve-Wiedemann-like syndrome: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response. to Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM# 618523; Stuve-Wiedemann-like syndrome: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response; Hyper-IgE syndrome, autosomal dominant
Combined Immunodeficiency v0.99 IL6ST Zornitza Stark Publications for gene: IL6ST were set to 28747427; 30309848; 12370259; 16041381; 31914175
Combined Immunodeficiency v0.98 IL6ST Zornitza Stark edited their review of gene: IL6ST: Changed publications: 32207811, 28747427, 30309848, 12370259, 16041381, 31914175; Changed phenotypes: Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM# 618523, Stuve-Wiedemann-like syndrome: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response., Hyper-IgE syndrome, autosomal dominant; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dystonia and Chorea v0.38 PLP1 Bryony Thompson gene: PLP1 was added
gene: PLP1 was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PLP1 were set to 30046645; 19396823
Phenotypes for gene: PLP1 were set to Pelizaeus-Merzbacher disease MIM#312080
Review for gene: PLP1 was set to RED
Added comment: Dystonia has been reported as a feature of PMD in two cases/families. It does not appear to be a prominent feature of the condition.
Sources: Expert list
Combined Immunodeficiency v0.98 IL6ST Zornitza Stark Mode of inheritance for gene: IL6ST was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Combined Immunodeficiency v0.97 IL6ST Zornitza Stark changed review comment from: Also known as gp130. Two families with bi-allelic missense variants and immunological phenotype described initially. More recently, five individuals from three families reported with a more complex Stuve-Wiedemann-like phenotype reported, including skeletal dysplasia and neonatal lung dysfunction with additional features such as congenital thrombocytopenia, eczematoid dermatitis, renal abnormalities, and defective acute-phase response. These three families had bi-allelic LoF variants (nonsense and canonical splice site). Several mouse models support gene-disease association.
Sources: Expert list; to: Also known as gp130. Two families with bi-allelic missense variants and immunological phenotype described initially. More recently, five individuals from three families reported with a more complex Stuve-Wiedemann-like phenotype reported, including skeletal dysplasia and neonatal lung dysfunction with additional features such as congenital thrombocytopenia, eczematoid dermatitis, renal abnormalities, and defective acute-phase response. These three families had bi-allelic LoF variants (nonsense and canonical splice site). Several mouse models support gene-disease association.
2020: 12 individuals from 8 unrelated families with seven different mono-allelic truncating variants, dominant negative effect proposed.
Sources: Expert list
Dystonia and Chorea v0.37 PDHA1 Bryony Thompson Marked gene: PDHA1 as ready
Dystonia and Chorea v0.37 PDHA1 Bryony Thompson Gene: pdha1 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.37 PDHA1 Bryony Thompson Classified gene: PDHA1 as Green List (high evidence)
Dystonia and Chorea v0.37 PDHA1 Bryony Thompson Gene: pdha1 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.36 PDHA1 Bryony Thompson gene: PDHA1 was added
gene: PDHA1 was added to Dystonia - complex. Sources: Literature
Mode of inheritance for gene: PDHA1 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: PDHA1 were set to 20002125
Phenotypes for gene: PDHA1 were set to Pyruvate dehydrogenase E1-alpha deficiency MIM#312170
Review for gene: PDHA1 was set to GREEN
Added comment: At least four cases reported with dystonia as a feature of the condition.
Sources: Literature
Dystonia and Chorea v0.35 PDHX Bryony Thompson Classified gene: PDHX as Green List (high evidence)
Dystonia and Chorea v0.35 PDHX Bryony Thompson Gene: pdhx has been classified as Green List (High Evidence).
Dystonia and Chorea v0.34 PDHX Bryony Thompson gene: PDHX was added
gene: PDHX was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: PDHX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDHX were set to 20002125; 16566017; 17152059
Phenotypes for gene: PDHX were set to Lacticacidemia due to PDX1 deficiency MIM#245349
Review for gene: PDHX was set to GREEN
Added comment: At least four cases reported with dystonia as a feature of the condition.
Sources: Expert list
Mendeliome v0.2013 TBX19 Kristin Rigbye reviewed gene: TBX19: Rating: GREEN; Mode of pathogenicity: None; Publications: 15613420, 15613420; Phenotypes: Adrenocorticotropic hormone deficiency, 201400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2013 PIEZO1 Kristin Rigbye reviewed gene: PIEZO1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23695678, 26333996; Phenotypes: Lymphatic malformation 6, 616843, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dystonia and Chorea v0.33 NKX2-1 Bryony Thompson Marked gene: NKX2-1 as ready
Dystonia and Chorea v0.33 NKX2-1 Bryony Thompson Gene: nkx2-1 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.33 NKX2-1 Bryony Thompson Classified gene: NKX2-1 as Green List (high evidence)
Dystonia and Chorea v0.33 NKX2-1 Bryony Thompson Gene: nkx2-1 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.32 NKX2-1 Bryony Thompson gene: NKX2-1 was added
gene: NKX2-1 was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: NKX2-1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NKX2-1 were set to 24714694; 30186310
Phenotypes for gene: NKX2-1 were set to Chorea, hereditary benign MIM#118700; Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978
Review for gene: NKX2-1 was set to GREEN
Added comment: At least 7 cases with dystonia as a feature of the condition.
Sources: Expert list
Cataract v0.60 IL10RA Lauren Akesson reviewed gene: IL10RA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Inflammatory bowel disease 28, early onset (613148); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.60 IL10 Lauren Akesson reviewed gene: IL10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Chromosome Breakage Disorders v0.15 BRCA1 Zornitza Stark gene: BRCA1 was added
gene: BRCA1 was added to Chromosome Breakage Disorders. Sources: Expert list
Mode of inheritance for gene: BRCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BRCA1 were set to 23269703; 29133208; 25472942; 29712865
Phenotypes for gene: BRCA1 were set to Fanconi anemia, complementation group S, MIM# 617883
Review for gene: BRCA1 was set to GREEN
Added comment: At least 5 unrelated families with bi-allelic variants reported and FA phenotype.
Sources: Expert list
Bone Marrow Failure v0.56 TP53 Zornitza Stark Marked gene: TP53 as ready
Bone Marrow Failure v0.56 TP53 Zornitza Stark Gene: tp53 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v0.56 TP53 Zornitza Stark Classified gene: TP53 as Amber List (moderate evidence)
Bone Marrow Failure v0.56 TP53 Zornitza Stark Gene: tp53 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v0.55 TP53 Zornitza Stark gene: TP53 was added
gene: TP53 was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: TP53 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TP53 were set to 30146126; 24013501; 23770245
Phenotypes for gene: TP53 were set to Bone marrow failure syndrome 5, MIM# 618165
Mode of pathogenicity for gene: TP53 was set to Other
Review for gene: TP53 was set to AMBER
Added comment: Two unrelated individuals with de novo variants in this gene, both resulted in the same truncation of the protein with a loss of 32 residues from the C-terminal end (Ser362AlafsTer8). The deletion is postulated to compromise binding of negative transcriptional regulators, resulting in augmented p53 function, not loss of function. Mouse models with animals lacking the C-terminal end of Tp53 show similar abnormalities.
Sources: Expert list
Mendeliome v0.2013 SAMD9L Zornitza Stark Marked gene: SAMD9L as ready
Mendeliome v0.2013 SAMD9L Zornitza Stark Gene: samd9l has been classified as Green List (High Evidence).
Mendeliome v0.2013 SAMD9L Zornitza Stark Phenotypes for gene: SAMD9L were changed from to Ataxia-pancytopenia syndrome, MIM# 159550
Mendeliome v0.2012 SAMD9L Zornitza Stark Publications for gene: SAMD9L were set to
Mendeliome v0.2011 SAMD9L Zornitza Stark Mode of pathogenicity for gene: SAMD9L was changed from to Other
Mendeliome v0.2010 SAMD9L Zornitza Stark Mode of inheritance for gene: SAMD9L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2009 SAMD9L Zornitza Stark edited their review of gene: SAMD9L: Changed mode of pathogenicity: Other
Mendeliome v0.2009 SAMD9L Zornitza Stark reviewed gene: SAMD9L: Rating: GREEN; Mode of pathogenicity: None; Publications: 27259050, 30923096, 30322869; Phenotypes: Ataxia-pancytopenia syndrome, MIM# 159550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.54 SAMD9L Zornitza Stark Marked gene: SAMD9L as ready
Bone Marrow Failure v0.54 SAMD9L Zornitza Stark Gene: samd9l has been classified as Green List (High Evidence).
Bone Marrow Failure v0.54 SAMD9L Zornitza Stark Classified gene: SAMD9L as Green List (high evidence)
Bone Marrow Failure v0.54 SAMD9L Zornitza Stark Gene: samd9l has been classified as Green List (High Evidence).
Bone Marrow Failure v0.53 SAMD9L Zornitza Stark gene: SAMD9L was added
gene: SAMD9L was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: SAMD9L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SAMD9L were set to 27259050; 30923096; 30322869
Phenotypes for gene: SAMD9L were set to Ataxia-pancytopenia syndrome, MIM# 159550
Mode of pathogenicity for gene: SAMD9L was set to Other
Review for gene: SAMD9L was set to GREEN
Added comment: At least three unrelated families reported, some postulate GoF whereas others postulate LoF as mechanism.
Sources: Expert list
Dystonia and Chorea v0.31 MPV17 Bryony Thompson gene: MPV17 was added
gene: MPV17 was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPV17 were set to 29282788
Phenotypes for gene: MPV17 were set to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) MIM#256810
Review for gene: MPV17 was set to RED
Added comment: Dystonia is not a prominent feature of the condition. It has been reported in 4/91 (4%) of cases. There are other features that are more prominent.
Sources: Expert list
Mendeliome v0.2009 RFWD3 Zornitza Stark Marked gene: RFWD3 as ready
Mendeliome v0.2009 RFWD3 Zornitza Stark Gene: rfwd3 has been classified as Red List (Low Evidence).
Mendeliome v0.2009 RFWD3 Zornitza Stark Phenotypes for gene: RFWD3 were changed from to Fanconi anemia, complementation group W, MIM# 617784
Mendeliome v0.2008 RFWD3 Zornitza Stark Publications for gene: RFWD3 were set to
Mendeliome v0.2007 RFWD3 Zornitza Stark Mode of inheritance for gene: RFWD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2006 RFWD3 Zornitza Stark Classified gene: RFWD3 as Red List (low evidence)
Mendeliome v0.2006 RFWD3 Zornitza Stark Gene: rfwd3 has been classified as Red List (Low Evidence).
Mendeliome v0.2005 RFWD3 Zornitza Stark reviewed gene: RFWD3: Rating: RED; Mode of pathogenicity: None; Publications: 28691929; Phenotypes: Fanconi anemia, complementation group W, MIM# 617784; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.52 RFWD3 Zornitza Stark Marked gene: RFWD3 as ready
Bone Marrow Failure v0.52 RFWD3 Zornitza Stark Gene: rfwd3 has been classified as Red List (Low Evidence).
Chromosome Breakage Disorders v0.14 RFWD3 Zornitza Stark Marked gene: RFWD3 as ready
Chromosome Breakage Disorders v0.14 RFWD3 Zornitza Stark Gene: rfwd3 has been classified as Red List (Low Evidence).
Chromosome Breakage Disorders v0.14 RFWD3 Zornitza Stark gene: RFWD3 was added
gene: RFWD3 was added to Chromosome Breakage Disorders. Sources: Expert list
Mode of inheritance for gene: RFWD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RFWD3 were set to 28691929
Phenotypes for gene: RFWD3 were set to Fanconi anemia, complementation group W, MIM# 617784
Review for gene: RFWD3 was set to RED
Added comment: Single family reported, functional data.
Sources: Expert list
Bone Marrow Failure v0.52 RFWD3 Zornitza Stark gene: RFWD3 was added
gene: RFWD3 was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: RFWD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RFWD3 were set to 28691929
Phenotypes for gene: RFWD3 were set to Fanconi anemia, complementation group W, MIM# 617784
Review for gene: RFWD3 was set to RED
Added comment: Single family reported, functional data
Sources: Expert list
Cataract v0.60 IKBKG Lauren Akesson reviewed gene: IKBKG: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 22564885 (review), 12975158, 20499493, 10893071; Phenotypes: Incontinentia pigmenti (308300), / Ectodermal dysplasia and immunodeficiency 1 (300291), Ectodermal dysplasia, anhidrotic, lymphoedema and immunodeficiency (300301), Immunodeficiency 33 (300636), Immunodeficiency, isolated (300584), Invasive pneumococcal disease, recurrent isolated 2 (300640); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Dystonia and Chorea v0.30 MMADHC Bryony Thompson gene: MMADHC was added
gene: MMADHC was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: MMADHC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMADHC were set to 15292234; 18385497
Phenotypes for gene: MMADHC were set to Homocystinuria, cblD type, variant 1 MIM#277410
Review for gene: MMADHC was set to RED
Added comment: Single case reported with dystonia as a feature of the condition.
Sources: Expert list
Chromosome Breakage Disorders v0.13 MAD2L2 Zornitza Stark Marked gene: MAD2L2 as ready
Chromosome Breakage Disorders v0.13 MAD2L2 Zornitza Stark Gene: mad2l2 has been classified as Red List (Low Evidence).
Chromosome Breakage Disorders v0.13 MAD2L2 Zornitza Stark gene: MAD2L2 was added
gene: MAD2L2 was added to Chromosome Breakage Disorders. Sources: Expert list
Mode of inheritance for gene: MAD2L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAD2L2 were set to 27500492
Phenotypes for gene: MAD2L2 were set to Fanconi anemia, complementation group V, MIM# 617243
Review for gene: MAD2L2 was set to RED
Added comment: Single family reported.
Sources: Expert list
Mendeliome v0.2005 MAD2L2 Zornitza Stark Marked gene: MAD2L2 as ready
Mendeliome v0.2005 MAD2L2 Zornitza Stark Gene: mad2l2 has been classified as Red List (Low Evidence).
Mendeliome v0.2005 MAD2L2 Zornitza Stark gene: MAD2L2 was added
gene: MAD2L2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: MAD2L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAD2L2 were set to 27500492
Phenotypes for gene: MAD2L2 were set to Fanconi anemia, complementation group V, MIM# 617243
Review for gene: MAD2L2 was set to RED
Added comment: Single family reported.
Sources: Expert list
Bone Marrow Failure v0.51 MAD2L2 Zornitza Stark Marked gene: MAD2L2 as ready
Bone Marrow Failure v0.51 MAD2L2 Zornitza Stark Gene: mad2l2 has been classified as Red List (Low Evidence).
Bone Marrow Failure v0.51 MAD2L2 Zornitza Stark gene: MAD2L2 was added
gene: MAD2L2 was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: MAD2L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAD2L2 were set to 27500492
Phenotypes for gene: MAD2L2 were set to Fanconi anemia, complementation group V, MIM# 617243
Review for gene: MAD2L2 was set to RED
Added comment: Single family reported.
Sources: Expert list
Mendeliome v0.2004 UBE2T Zornitza Stark Marked gene: UBE2T as ready
Mendeliome v0.2004 UBE2T Zornitza Stark Gene: ube2t has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2004 UBE2T Zornitza Stark Phenotypes for gene: UBE2T were changed from to Fanconi anemia, complementation group T, MIM# 616435
Mendeliome v0.2003 UBE2T Zornitza Stark Publications for gene: UBE2T were set to
Mendeliome v0.2002 UBE2T Zornitza Stark Mode of inheritance for gene: UBE2T was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2001 UBE2T Zornitza Stark Classified gene: UBE2T as Amber List (moderate evidence)
Mendeliome v0.2001 UBE2T Zornitza Stark Gene: ube2t has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2000 UBE2T Zornitza Stark reviewed gene: UBE2T: Rating: AMBER; Mode of pathogenicity: None; Publications: 26046368; Phenotypes: Fanconi anemia, complementation group T, MIM# 616435; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.12 UBE2T Zornitza Stark Marked gene: UBE2T as ready
Chromosome Breakage Disorders v0.12 UBE2T Zornitza Stark Gene: ube2t has been classified as Amber List (Moderate Evidence).
Chromosome Breakage Disorders v0.12 UBE2T Zornitza Stark Phenotypes for gene: UBE2T were changed from to Fanconi anemia, complementation group T, MIM# 616435
Chromosome Breakage Disorders v0.11 UBE2T Zornitza Stark Publications for gene: UBE2T were set to
Chromosome Breakage Disorders v0.10 UBE2T Zornitza Stark Mode of inheritance for gene: UBE2T was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.9 UBE2T Zornitza Stark Classified gene: UBE2T as Amber List (moderate evidence)
Chromosome Breakage Disorders v0.9 UBE2T Zornitza Stark Gene: ube2t has been classified as Amber List (Moderate Evidence).
Chromosome Breakage Disorders v0.8 UBE2T Zornitza Stark reviewed gene: UBE2T: Rating: AMBER; Mode of pathogenicity: None; Publications: 26046368; Phenotypes: Fanconi anemia, complementation group T, MIM# 616435; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.50 UBE2T Zornitza Stark Marked gene: UBE2T as ready
Bone Marrow Failure v0.50 UBE2T Zornitza Stark Gene: ube2t has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v0.50 UBE2T Zornitza Stark Classified gene: UBE2T as Amber List (moderate evidence)
Bone Marrow Failure v0.50 UBE2T Zornitza Stark Gene: ube2t has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v0.49 UBE2T Zornitza Stark gene: UBE2T was added
gene: UBE2T was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: UBE2T was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UBE2T were set to 26046368
Phenotypes for gene: UBE2T were set to Fanconi anemia, complementation group T, MIM# 616435
Review for gene: UBE2T was set to AMBER
Added comment: Two unrelated families reported, one of the variants was a large deletion.
Sources: Expert list
Dystonia and Chorea v0.29 MAT1A Bryony Thompson gene: MAT1A was added
gene: MAT1A was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: MAT1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAT1A were set to 8770875
Phenotypes for gene: MAT1A were set to Methionine adenosyltransferase deficiency, autosomal recessive MIM#250850
Review for gene: MAT1A was set to RED
Added comment: Single case reported with dystonia a feature of the condition.
Sources: Expert list
Bone Marrow Failure v0.48 BRCA1 Zornitza Stark Marked gene: BRCA1 as ready
Bone Marrow Failure v0.48 BRCA1 Zornitza Stark Gene: brca1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.48 BRCA1 Zornitza Stark Classified gene: BRCA1 as Green List (high evidence)
Bone Marrow Failure v0.48 BRCA1 Zornitza Stark Gene: brca1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.47 BRCA1 Zornitza Stark gene: BRCA1 was added
gene: BRCA1 was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: BRCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BRCA1 were set to 23269703; 29133208; 25472942; 29712865
Phenotypes for gene: BRCA1 were set to Fanconi anemia, complementation group S, MIM# 617883
Review for gene: BRCA1 was set to GREEN
Added comment: At least 5 unrelated families with bi-allelic variants reported and FA phenotype.
Sources: Expert list
Dystonia and Chorea v0.28 MARS2 Bryony Thompson Marked gene: MARS2 as ready
Dystonia and Chorea v0.28 MARS2 Bryony Thompson Gene: mars2 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.28 MARS2 Bryony Thompson Classified gene: MARS2 as Green List (high evidence)
Dystonia and Chorea v0.28 MARS2 Bryony Thompson Added comment: Comment on list classification: Large duplications that are not detected by WES are the only reported cause of the form of spastic ataxia caused by this gene.
Dystonia and Chorea v0.28 MARS2 Bryony Thompson Gene: mars2 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.27 MARS2 Bryony Thompson Tag SV/CNV tag was added to gene: MARS2.
Dystonia and Chorea v0.27 MARS2 Bryony Thompson gene: MARS2 was added
gene: MARS2 was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: MARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MARS2 were set to 16672289; 22448145
Phenotypes for gene: MARS2 were set to Spastic ataxia 3, autosomal recessive MIM#611390
Review for gene: MARS2 was set to GREEN
Added comment: 57% of 23 cases from 17 French-Canadian spastic ataxia families had dystonia as a feature of the condition.
Sources: Expert list
Cataract v0.60 ICOS Lauren Akesson reviewed gene: ICOS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Common variable immunodeficiency 1 (604558); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dystonia and Chorea v0.26 MAPT Bryony Thompson gene: MAPT was added
gene: MAPT was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: MAPT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAPT were set to 17319286; 15883319
Phenotypes for gene: MAPT were set to Dementia, frontotemporal, with or without parkinsonism MIM#600274
Review for gene: MAPT was set to AMBER
Added comment: Dystonia has been reported in two cases. Cannot find evidence that dystonia is a prominent feature associated with MAPT variants.
Sources: Expert list
Dystonia and Chorea v0.25 L2HGDH Bryony Thompson Marked gene: L2HGDH as ready
Dystonia and Chorea v0.25 L2HGDH Bryony Thompson Gene: l2hgdh has been classified as Green List (High Evidence).
Dystonia and Chorea v0.25 L2HGDH Bryony Thompson Classified gene: L2HGDH as Green List (high evidence)
Dystonia and Chorea v0.25 L2HGDH Bryony Thompson Gene: l2hgdh has been classified as Green List (High Evidence).
Dystonia and Chorea v0.24 L2HGDH Bryony Thompson gene: L2HGDH was added
gene: L2HGDH was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: L2HGDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: L2HGDH were set to 24753671; 18780161; 15824270; 10399870
Phenotypes for gene: L2HGDH were set to L-2-hydroxyglutaric aciduria MIM#236792
Review for gene: L2HGDH was set to GREEN
Added comment: Four families with dystonia as a feature of the condition.
Sources: Expert list
Cataract v0.60 HTRA2 Lauren Akesson gene: HTRA2 was added
gene: HTRA2 was added to Cataract. Sources: Literature
Mode of inheritance for gene: HTRA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HTRA2 were set to PMID: 27696117; 27208207
Phenotypes for gene: HTRA2 were set to 3-methylglutaconic aciduria type VIII (617248)
Penetrance for gene: HTRA2 were set to unknown
Review for gene: HTRA2 was set to GREEN
Added comment: Cataract is listed as part of the phenotype of 3-methylglutaconic aciduria caused by HTRA2 in OMIM (617248). Cataracts are a well established phenotypic feature of 3-methylglutaconic aciduria, which is caused by several genes including HTRA2. At least one proband with a homozygous HTRA2 variant has cataracts (PMID 27696117). A total of four unrelated families with homozygous HTRA2 variants demonstrate 3-methylglutaconic aciduria (PMID 27696117; 27208207) of which two variants segregate with disease within the families (PMID 27208207) and two variants have functional studies (PMID 27696117).
Sources: Literature
Dystonia and Chorea v0.23 KCNQ2 Bryony Thompson gene: KCNQ2 was added
gene: KCNQ2 was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: KCNQ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNQ2 were set to 12742592
Phenotypes for gene: KCNQ2 were set to Epileptic encephalopathy, early infantile, 7 MIM#613720
Review for gene: KCNQ2 was set to RED
Added comment: Cannot find evidence that dystonia is a prominent feature of the condition. Single case reported with dystonic features from 2003
Sources: Expert list
Cataract v0.60 HPS6 Lauren Akesson reviewed gene: HPS6: Rating: AMBER; Mode of pathogenicity: None; Publications: 8719678; Phenotypes: Hermansky-Pudlak syndrome 6 (614075); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.60 HPS4 Lauren Akesson reviewed gene: HPS4: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 8719678; Phenotypes: Hermansky-Pudlak syndrome 4 (614073); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.60 HPS1 Lauren Akesson reviewed gene: HPS1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID 8719678, 27058854; Phenotypes: Hermansky-Pudlak syndrome 1 (203300); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2000 HAVCR2 Zornitza Stark Marked gene: HAVCR2 as ready
Mendeliome v0.2000 HAVCR2 Zornitza Stark Gene: havcr2 has been classified as Green List (High Evidence).
Mendeliome v0.2000 HAVCR2 Zornitza Stark Classified gene: HAVCR2 as Green List (high evidence)
Mendeliome v0.2000 HAVCR2 Zornitza Stark Gene: havcr2 has been classified as Green List (High Evidence).
Mendeliome v0.1999 HAVCR2 Zornitza Stark gene: HAVCR2 was added
gene: HAVCR2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: HAVCR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HAVCR2 were set to 30374066; 30792187
Phenotypes for gene: HAVCR2 were set to T-cell lymphoma, subcutaneous panniculitis-like, MIM# 618398
Review for gene: HAVCR2 was set to GREEN
Added comment: Over 20 unrelated individuals reported, note germline confirmation in only a few. Some variants are recurrent: c.245A>G (p.Tyr82Cys) and c.291A>G (p.Ile97Met).
Sources: Expert list
Autoinflammatory Disorders v0.41 HAVCR2 Zornitza Stark Marked gene: HAVCR2 as ready
Autoinflammatory Disorders v0.41 HAVCR2 Zornitza Stark Gene: havcr2 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.41 HAVCR2 Zornitza Stark Classified gene: HAVCR2 as Green List (high evidence)
Autoinflammatory Disorders v0.41 HAVCR2 Zornitza Stark Gene: havcr2 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.40 HAVCR2 Zornitza Stark gene: HAVCR2 was added
gene: HAVCR2 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list
Mode of inheritance for gene: HAVCR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HAVCR2 were set to 30374066; 30792187
Phenotypes for gene: HAVCR2 were set to T-cell lymphoma, subcutaneous panniculitis-like, MIM# 618398
Review for gene: HAVCR2 was set to GREEN
Added comment: Over 20 unrelated individuals reported, note germline confirmation in only a few. Some variants are recurrent: c.245A>G (p.Tyr82Cys) and c.291A>G (p.Ile97Met).
Sources: Expert list
Mendeliome v0.1998 TRIM22 Zornitza Stark Marked gene: TRIM22 as ready
Mendeliome v0.1998 TRIM22 Zornitza Stark Gene: trim22 has been classified as Green List (High Evidence).
Mendeliome v0.1998 TRIM22 Zornitza Stark Classified gene: TRIM22 as Green List (high evidence)
Mendeliome v0.1998 TRIM22 Zornitza Stark Gene: trim22 has been classified as Green List (High Evidence).
Mendeliome v0.1997 TRIM22 Zornitza Stark gene: TRIM22 was added
gene: TRIM22 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: TRIM22 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRIM22 were set to 26836588
Phenotypes for gene: TRIM22 were set to Inflammatory bowel disease
Review for gene: TRIM22 was set to GREEN
Added comment: Three unrelated families reported with bi-allelic variants in this gene, and very early onset IBD, some functional data.
Sources: Expert list
Inflammatory bowel disease v0.11 TRIM22 Zornitza Stark Marked gene: TRIM22 as ready
Inflammatory bowel disease v0.11 TRIM22 Zornitza Stark Gene: trim22 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.11 TRIM22 Zornitza Stark Classified gene: TRIM22 as Green List (high evidence)
Inflammatory bowel disease v0.11 TRIM22 Zornitza Stark Gene: trim22 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.10 TRIM22 Zornitza Stark gene: TRIM22 was added
gene: TRIM22 was added to Inflammatory bowel disease. Sources: Expert list
Mode of inheritance for gene: TRIM22 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRIM22 were set to 26836588
Phenotypes for gene: TRIM22 were set to Inflammatory bowel disease
Review for gene: TRIM22 was set to GREEN
Added comment: Three unrelated families reported with bi-allelic variants in this gene, and very early onset IBD, some functional data.
Sources: Expert list
Dystonia and Chorea v0.22 HACE1 Bryony Thompson Marked gene: HACE1 as ready
Dystonia and Chorea v0.22 HACE1 Bryony Thompson Gene: hace1 has been classified as Amber List (Moderate Evidence).
Dystonia and Chorea v0.22 HACE1 Bryony Thompson Classified gene: HACE1 as Amber List (moderate evidence)
Dystonia and Chorea v0.22 HACE1 Bryony Thompson Gene: hace1 has been classified as Amber List (Moderate Evidence).
Dystonia and Chorea v0.21 HACE1 Bryony Thompson gene: HACE1 was added
gene: HACE1 was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: HACE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HACE1 were set to 26424145; 26437029
Phenotypes for gene: HACE1 were set to Spastic paraplegia and psychomotor retardation with or without seizures MIM#616756
Review for gene: HACE1 was set to AMBER
Added comment: Two families where 1/5 and 1/3 affected cases has dystonic movements as part of their phenotype, respectively (PMID: 26424145). Members of two out of four families have spasticity/dystonia features, with no further differentiation supplied (PMID: 26437029).
Sources: Expert list
Mendeliome v0.1996 ALPI Zornitza Stark Marked gene: ALPI as ready
Mendeliome v0.1996 ALPI Zornitza Stark Gene: alpi has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1996 ALPI Zornitza Stark Classified gene: ALPI as Amber List (moderate evidence)
Mendeliome v0.1996 ALPI Zornitza Stark Gene: alpi has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1995 ALPI Zornitza Stark gene: ALPI was added
gene: ALPI was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: ALPI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALPI were set to 29567797
Phenotypes for gene: ALPI were set to Inflammatory bowel disease
Review for gene: ALPI was set to AMBER
Added comment: Two unrelated individuals, some functional data.
Sources: Expert list
Inflammatory bowel disease v0.9 ALPI Zornitza Stark Marked gene: ALPI as ready
Inflammatory bowel disease v0.9 ALPI Zornitza Stark Gene: alpi has been classified as Amber List (Moderate Evidence).
Inflammatory bowel disease v0.9 ALPI Zornitza Stark Classified gene: ALPI as Amber List (moderate evidence)
Inflammatory bowel disease v0.9 ALPI Zornitza Stark Gene: alpi has been classified as Amber List (Moderate Evidence).
Inflammatory bowel disease v0.8 ALPI Zornitza Stark gene: ALPI was added
gene: ALPI was added to Inflammatory bowel disease. Sources: Expert list
Mode of inheritance for gene: ALPI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALPI were set to 29567797
Phenotypes for gene: ALPI were set to Inflammatory bowel disease
Review for gene: ALPI was set to AMBER
Added comment: Two unrelated individuals, some functional data.
Sources: Expert list
Mendeliome v0.1994 PSMG2 Zornitza Stark Marked gene: PSMG2 as ready
Mendeliome v0.1994 PSMG2 Zornitza Stark Gene: psmg2 has been classified as Red List (Low Evidence).
Mendeliome v0.1994 PSMG2 Zornitza Stark gene: PSMG2 was added
gene: PSMG2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: PSMG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSMG2 were set to 30664889
Phenotypes for gene: PSMG2 were set to CANDLE syndrome; Chronic atypical neutrophilic dermatitis with lipodystrophy
Review for gene: PSMG2 was set to RED
Added comment: Single individual reported.
Sources: Expert list
Autoinflammatory Disorders v0.39 PSMG2 Zornitza Stark Marked gene: PSMG2 as ready
Autoinflammatory Disorders v0.39 PSMG2 Zornitza Stark Gene: psmg2 has been classified as Red List (Low Evidence).
Autoinflammatory Disorders v0.39 PSMG2 Zornitza Stark gene: PSMG2 was added
gene: PSMG2 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list
Mode of inheritance for gene: PSMG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSMG2 were set to 30664889
Phenotypes for gene: PSMG2 were set to CANDLE syndrome; Chronic atypical neutrophilic dermatitis with lipodystrophy
Review for gene: PSMG2 was set to RED
Added comment: Single individual reported.
Sources: Expert list
Mendeliome v0.1993 NLRP1 Zornitza Stark Marked gene: NLRP1 as ready
Mendeliome v0.1993 NLRP1 Zornitza Stark Gene: nlrp1 has been classified as Green List (High Evidence).
Mendeliome v0.1993 NLRP1 Zornitza Stark Phenotypes for gene: NLRP1 were changed from to Autoinflammation with arthritis and dyskeratosis, MIM# 617388; Palmoplantar carcinoma, multiple self-healing, MIM# 615225; Recurrent respiratory papillomatosis
Mendeliome v0.1992 NLRP1 Zornitza Stark Publications for gene: NLRP1 were set to
Mendeliome v0.1991 NLRP1 Zornitza Stark Mode of inheritance for gene: NLRP1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1990 NLRP1 Zornitza Stark reviewed gene: NLRP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27965258, 31484767, 27662089; Phenotypes: Autoinflammation with arthritis and dyskeratosis, MIM# 617388, Palmoplantar carcinoma, multiple self-healing 615225, Recurrent respiratory papillomatosis; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Autoinflammatory Disorders v0.38 NLRP1 Zornitza Stark Marked gene: NLRP1 as ready
Autoinflammatory Disorders v0.38 NLRP1 Zornitza Stark Gene: nlrp1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.38 NLRP1 Zornitza Stark Classified gene: NLRP1 as Green List (high evidence)
Autoinflammatory Disorders v0.38 NLRP1 Zornitza Stark Gene: nlrp1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.37 NLRP1 Zornitza Stark gene: NLRP1 was added
gene: NLRP1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list
Mode of inheritance for gene: NLRP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: NLRP1 were set to 27965258; 31484767; 27662089
Phenotypes for gene: NLRP1 were set to Autoinflammation with arthritis and dyskeratosis, MIM# 617388; Palmoplantar carcinoma, multiple self-healing 615225; Recurrent respiratory papillomatosis
Mode of pathogenicity for gene: NLRP1 was set to Other
Review for gene: NLRP1 was set to GREEN
Added comment: Multiple phenotypes resulting from abnormal inflammatory response associated with this gene, both mono-allelic and bi-allelic, some gain-of-function (including bi-allelic).
Bi-allelic disease: single family with dyskeratosis, autoimmunity and arthritis and another family with bi-allelic GoF and recurrent respiratory papillomatosis phenotype
Mono-allelic disease: mostly pertains to the association with multiple self-healing palmoplantar carcinomas (MSPC). One consanguineous family in which a sister and brother with clinical features of MSPC as well as multiple discrete and semiconfluent lichenoid papules on the arms, legs, and lower trunk were homozygous for an in-frame deletion in the NLRP1 gene, and parents had milder skin defects. The clinical diagnosis in this family was familial keratosis lichenoides chronica (Nekam disease).
Sources: Expert list
Brain Calcification v0.18 USP18 Zornitza Stark Marked gene: USP18 as ready
Brain Calcification v0.18 USP18 Zornitza Stark Gene: usp18 has been classified as Green List (High Evidence).
Brain Calcification v0.18 USP18 Zornitza Stark Classified gene: USP18 as Green List (high evidence)
Brain Calcification v0.18 USP18 Zornitza Stark Gene: usp18 has been classified as Green List (High Evidence).
Brain Calcification v0.17 USP18 Zornitza Stark gene: USP18 was added
gene: USP18 was added to Brain Calcification. Sources: Expert list
Mode of inheritance for gene: USP18 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: USP18 were set to 31940699; 27325888
Phenotypes for gene: USP18 were set to Pseudo-TORCH syndrome 2, MIM# 617397
Review for gene: USP18 was set to GREEN
Added comment: Three unrelated families reported. Note cryptic 3' deletion identified in one.
Sources: Expert list
Autoinflammatory Disorders v0.36 USP18 Zornitza Stark changed review comment from: Two unrelated families reported.
Sources: Expert list; to: Three unrelated families reported. Note cryptic 3' deletion identified in one.
Sources: Expert list
Autoinflammatory Disorders v0.36 USP18 Zornitza Stark edited their review of gene: USP18: Changed rating: GREEN; Changed phenotypes: Pseudo-TORCH syndrome 2, MIM# 617397
Autoinflammatory Disorders v0.36 USP18 Zornitza Stark Marked gene: USP18 as ready
Autoinflammatory Disorders v0.36 USP18 Zornitza Stark Gene: usp18 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.36 USP18 Zornitza Stark Classified gene: USP18 as Green List (high evidence)
Autoinflammatory Disorders v0.36 USP18 Zornitza Stark Gene: usp18 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.35 USP18 Zornitza Stark Classified gene: USP18 as Amber List (moderate evidence)
Autoinflammatory Disorders v0.35 USP18 Zornitza Stark Gene: usp18 has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v0.34 USP18 Zornitza Stark gene: USP18 was added
gene: USP18 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list
Mode of inheritance for gene: USP18 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: USP18 were set to 31940699; 27325888
Phenotypes for gene: USP18 were set to Pseudo-TORCH syndrome 2, MIM# 617397
Review for gene: USP18 was set to AMBER
Added comment: Two unrelated families reported.
Sources: Expert list
Mendeliome v0.1990 POLA1 Zornitza Stark Marked gene: POLA1 as ready
Mendeliome v0.1990 POLA1 Zornitza Stark Gene: pola1 has been classified as Green List (High Evidence).
Mendeliome v0.1990 POLA1 Zornitza Stark Phenotypes for gene: POLA1 were changed from to Pigmentary disorder, reticulate, with systemic manifestations, X-linked, MIM# 301220; Van Esch-O'Driscoll syndrome OMIM# 301030
Mendeliome v0.1989 POLA1 Zornitza Stark Publications for gene: POLA1 were set to
Mendeliome v0.1988 POLA1 Zornitza Stark Mode of inheritance for gene: POLA1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1987 POLA1 Zornitza Stark Tag deep intronic tag was added to gene: POLA1.
Mendeliome v0.1987 POLA1 Zornitza Stark reviewed gene: POLA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27019227, 31006512; Phenotypes: Pigmentary disorder, reticulate, with systemic manifestations, X-linked, MIM# 301220, Van Esch-O'Driscoll syndrome OMIM# 301030; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Autoinflammatory Disorders v0.33 POLA1 Zornitza Stark Tag deep intronic tag was added to gene: POLA1.
Autoinflammatory Disorders v0.33 POLA1 Zornitza Stark Marked gene: POLA1 as ready
Autoinflammatory Disorders v0.33 POLA1 Zornitza Stark Gene: pola1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.33 POLA1 Zornitza Stark Classified gene: POLA1 as Green List (high evidence)
Autoinflammatory Disorders v0.33 POLA1 Zornitza Stark Gene: pola1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.32 POLA1 Zornitza Stark gene: POLA1 was added
gene: POLA1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list
Mode of inheritance for gene: POLA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: POLA1 were set to 27019227
Phenotypes for gene: POLA1 were set to Pigmentary disorder, reticulate, with systemic manifestations, X-linked, MIM# 301220
Review for gene: POLA1 was set to GREEN
Added comment: 12 unrelated families with same g.24744696A-G transition (NC_000023.10, g.24744696A-G) in intron 13 of the POLA1 gene, resulting the introduction of a novel exon (exon 13a) into the transcript. Two of the families shared the same haplotype, indicative of founder effect but rest thought to have arisen independently, including at least one de novo variant.
Sources: Expert list
Autoinflammatory Disorders v0.31 ACP5 Zornitza Stark Marked gene: ACP5 as ready
Autoinflammatory Disorders v0.31 ACP5 Zornitza Stark Gene: acp5 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.31 ACP5 Zornitza Stark Classified gene: ACP5 as Green List (high evidence)
Autoinflammatory Disorders v0.31 ACP5 Zornitza Stark Gene: acp5 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.30 ACP5 Zornitza Stark gene: ACP5 was added
gene: ACP5 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list
Mode of inheritance for gene: ACP5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACP5 were set to 26951490; 21217755; 26789720; 26346816
Phenotypes for gene: ACP5 were set to Spondyloenchondrodysplasia with immune dysregulation, MIM# 607944; Short stature; SLE, thrombocytopenia and autoimmune haemolytic anaemia; Possibly recurrent bacterial and viral infections
Review for gene: ACP5 was set to GREEN
Added comment: Sources: Expert list
Autoinflammatory Disorders v0.29 IFIH1 Zornitza Stark Classified gene: IFIH1 as Green List (high evidence)
Autoinflammatory Disorders v0.29 IFIH1 Zornitza Stark Gene: ifih1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.28 IFIH1 Zornitza Stark Marked gene: IFIH1 as ready
Autoinflammatory Disorders v0.28 IFIH1 Zornitza Stark Gene: ifih1 has been classified as Red List (Low Evidence).
Autoinflammatory Disorders v0.28 IFIH1 Zornitza Stark gene: IFIH1 was added
gene: IFIH1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list
Mode of inheritance for gene: IFIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: IFIH1 were set to Aicardi-Goutieres syndrome 7, MIM# 615846
Review for gene: IFIH1 was set to GREEN
Added comment: Gain of function variants.
Sources: Expert list
Autoinflammatory Disorders v0.27 ADAR Zornitza Stark Marked gene: ADAR as ready
Autoinflammatory Disorders v0.27 ADAR Zornitza Stark Gene: adar has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.27 ADAR Zornitza Stark Classified gene: ADAR as Green List (high evidence)
Autoinflammatory Disorders v0.27 ADAR Zornitza Stark Gene: adar has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.26 ADAR Zornitza Stark gene: ADAR was added
gene: ADAR was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list
Mode of inheritance for gene: ADAR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAR were set to Aicardi-Goutieres syndrome 6, MIM# 615010
Review for gene: ADAR was set to GREEN
Added comment: Sources: Expert list
Autoinflammatory Disorders v0.25 SAMHD1 Zornitza Stark Marked gene: SAMHD1 as ready
Autoinflammatory Disorders v0.25 SAMHD1 Zornitza Stark Gene: samhd1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.25 SAMHD1 Zornitza Stark Classified gene: SAMHD1 as Green List (high evidence)
Autoinflammatory Disorders v0.25 SAMHD1 Zornitza Stark Gene: samhd1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.24 SAMHD1 Zornitza Stark gene: SAMHD1 was added
gene: SAMHD1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list
Mode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SAMHD1 were set to Aicardi-Goutieres syndrome 5, MIM# 612952
Review for gene: SAMHD1 was set to GREEN
Added comment: Sources: Expert list
Autoinflammatory Disorders v0.23 RNASEH2A Zornitza Stark Marked gene: RNASEH2A as ready
Autoinflammatory Disorders v0.23 RNASEH2A Zornitza Stark Gene: rnaseh2a has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.23 RNASEH2A Zornitza Stark Classified gene: RNASEH2A as Green List (high evidence)
Autoinflammatory Disorders v0.23 RNASEH2A Zornitza Stark Gene: rnaseh2a has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.22 RNASEH2A Zornitza Stark gene: RNASEH2A was added
gene: RNASEH2A was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list
Mode of inheritance for gene: RNASEH2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASEH2A were set to Aicardi-Goutieres syndrome 4, MIM# 610333
Review for gene: RNASEH2A was set to GREEN
Added comment: Sources: Expert list
Autoinflammatory Disorders v0.21 RNASEH2C Zornitza Stark Marked gene: RNASEH2C as ready
Autoinflammatory Disorders v0.21 RNASEH2C Zornitza Stark Gene: rnaseh2c has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.21 RNASEH2C Zornitza Stark Classified gene: RNASEH2C as Green List (high evidence)
Autoinflammatory Disorders v0.21 RNASEH2C Zornitza Stark Gene: rnaseh2c has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.20 RNASEH2C Zornitza Stark gene: RNASEH2C was added
gene: RNASEH2C was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list
Mode of inheritance for gene: RNASEH2C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASEH2C were set to Aicardi-Goutieres syndrome 3, MIM# 610329
Review for gene: RNASEH2C was set to GREEN
Added comment: Sources: Expert list
Autoinflammatory Disorders v0.19 RNASEH2B Zornitza Stark Marked gene: RNASEH2B as ready
Autoinflammatory Disorders v0.19 RNASEH2B Zornitza Stark Gene: rnaseh2b has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.19 RNASEH2B Zornitza Stark Classified gene: RNASEH2B as Green List (high evidence)
Autoinflammatory Disorders v0.19 RNASEH2B Zornitza Stark Gene: rnaseh2b has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.18 RNASEH2B Zornitza Stark gene: RNASEH2B was added
gene: RNASEH2B was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list
Mode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASEH2B were set to Aicardi-Goutieres syndrome 2, MIM# 610181
Review for gene: RNASEH2B was set to GREEN
Added comment: Sources: Expert list
Autoinflammatory Disorders v0.17 TREX1 Zornitza Stark Marked gene: TREX1 as ready
Autoinflammatory Disorders v0.17 TREX1 Zornitza Stark Gene: trex1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.17 TREX1 Zornitza Stark Classified gene: TREX1 as Green List (high evidence)
Autoinflammatory Disorders v0.17 TREX1 Zornitza Stark Gene: trex1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.16 TREX1 Zornitza Stark gene: TREX1 was added
gene: TREX1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list
Mode of inheritance for gene: TREX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TREX1 were set to {Systemic lupus erythematosus, susceptibility to} 152700; Aicardi-Goutieres syndrome 1, dominant and recessive 225750
Review for gene: TREX1 was set to GREEN
Added comment: Sources: Expert list
Autoinflammatory Disorders v0.15 TMEM173 Zornitza Stark edited their review of gene: TMEM173: Changed phenotypes: STING-associated vasculopathy, infantile-onset, MIM# 615934; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.15 TMEM173 Zornitza Stark Marked gene: TMEM173 as ready
Autoinflammatory Disorders v0.15 TMEM173 Zornitza Stark Gene: tmem173 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.15 TMEM173 Zornitza Stark Mode of inheritance for gene: TMEM173 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.14 TMEM173 Zornitza Stark Classified gene: TMEM173 as Green List (high evidence)
Autoinflammatory Disorders v0.14 TMEM173 Zornitza Stark Gene: tmem173 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.13 TMEM173 Zornitza Stark gene: TMEM173 was added
gene: TMEM173 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list
Mode of inheritance for gene: TMEM173 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM173 were set to 25401470; 25029335
Phenotypes for gene: TMEM173 were set to STING-associated vasculopathy, infantile-onset, MIM# 615934
Mode of pathogenicity for gene: TMEM173 was set to Other
Review for gene: TMEM173 was set to GREEN
Added comment: Four families reported.
Sources: Expert list
Autoinflammatory Disorders v0.12 Zornitza Stark Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Rare Disease
Mendeliome v0.1987 HMOX1 Zornitza Stark reviewed gene: HMOX1: Rating: AMBER; Mode of pathogenicity: None; Publications: 21088618, 9884342, 20844238; Phenotypes: Heme oxygenase-1 deficiency, MIM# 614034, Asplenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.18 HMOX1 Zornitza Stark Marked gene: HMOX1 as ready
Defects of intrinsic and innate immunity v0.18 HMOX1 Zornitza Stark Gene: hmox1 has been classified as Amber List (Moderate Evidence).
Defects of intrinsic and innate immunity v0.18 HMOX1 Zornitza Stark Classified gene: HMOX1 as Amber List (moderate evidence)
Defects of intrinsic and innate immunity v0.18 HMOX1 Zornitza Stark Gene: hmox1 has been classified as Amber List (Moderate Evidence).
Defects of intrinsic and innate immunity v0.17 HMOX1 Zornitza Stark gene: HMOX1 was added
gene: HMOX1 was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: HMOX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HMOX1 were set to 21088618; 9884342; 20844238
Phenotypes for gene: HMOX1 were set to Heme oxygenase-1 deficiency, MIM# 614034; Asplenia
Review for gene: HMOX1 was set to AMBER
Added comment: Two families reported, functional data.
Sources: Expert list
Mendeliome v0.1987 TIRAP Zornitza Stark changed review comment from: No evidence currently for Mendelian disease association. Some evidence for polymorphisms in this gene influencing susceptibility/protection from infectious disease.; to: No evidence currently for Mendelian disease association. Some evidence for polymorphisms in this gene influencing susceptibility/protection from infectious disease. One family with 8 individuals and bi-allelic variants and susceptibility to staphylococcal disease reported.
Mendeliome v0.1987 TIRAP Zornitza Stark edited their review of gene: TIRAP: Changed publications: 28235196; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.16 TIRAP Zornitza Stark Marked gene: TIRAP as ready
Defects of intrinsic and innate immunity v0.16 TIRAP Zornitza Stark Gene: tirap has been classified as Red List (Low Evidence).
Defects of intrinsic and innate immunity v0.16 TIRAP Zornitza Stark gene: TIRAP was added
gene: TIRAP was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: TIRAP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TIRAP were set to 28235196
Phenotypes for gene: TIRAP were set to Staphylococcal disease during childhood
Review for gene: TIRAP was set to RED
Added comment: Eight individuals from a single family.
Sources: Expert list
Mendeliome v0.1987 IRAK1 Zornitza Stark Marked gene: IRAK1 as ready
Mendeliome v0.1987 IRAK1 Zornitza Stark Gene: irak1 has been classified as Red List (Low Evidence).
Mendeliome v0.1987 IRAK1 Zornitza Stark Tag SV/CNV tag was added to gene: IRAK1.
Defects of intrinsic and innate immunity v0.15 IRAK1 Zornitza Stark Tag SV/CNV tag was added to gene: IRAK1.
Mendeliome v0.1987 IRAK1 Zornitza Stark gene: IRAK1 was added
gene: IRAK1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: IRAK1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: IRAK1 were set to 28069966
Phenotypes for gene: IRAK1 were set to Susceptibility to bacterial infections
Review for gene: IRAK1 was set to RED
Added comment: Single individual with MECP2 and IRAK1 deletion, died in infancy, immunological phenotype not fully elucidated. In vitro studies.
Sources: Expert list
Defects of intrinsic and innate immunity v0.15 IRAK1 Zornitza Stark Marked gene: IRAK1 as ready
Defects of intrinsic and innate immunity v0.15 IRAK1 Zornitza Stark Gene: irak1 has been classified as Red List (Low Evidence).
Defects of intrinsic and innate immunity v0.15 IRAK1 Zornitza Stark gene: IRAK1 was added
gene: IRAK1 was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: IRAK1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: IRAK1 were set to 28069966
Phenotypes for gene: IRAK1 were set to Susceptibility to bacterial infections
Review for gene: IRAK1 was set to RED
Added comment: Single individual with MECP2 and IRAK1 deletion, died in infancy, immunological phenotype not fully elucidated. In vitro studies.
Sources: Expert list
Susceptibility to Viral Infections v0.22 DBR1 Zornitza Stark Marked gene: DBR1 as ready
Susceptibility to Viral Infections v0.22 DBR1 Zornitza Stark Gene: dbr1 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.22 DBR1 Zornitza Stark Classified gene: DBR1 as Green List (high evidence)
Susceptibility to Viral Infections v0.22 DBR1 Zornitza Stark Gene: dbr1 has been classified as Green List (High Evidence).
Mendeliome v0.1986 DBR1 Zornitza Stark Marked gene: DBR1 as ready
Mendeliome v0.1986 DBR1 Zornitza Stark Gene: dbr1 has been classified as Green List (High Evidence).
Mendeliome v0.1986 DBR1 Zornitza Stark Classified gene: DBR1 as Green List (high evidence)
Mendeliome v0.1986 DBR1 Zornitza Stark Gene: dbr1 has been classified as Green List (High Evidence).
Mendeliome v0.1985 DBR1 Zornitza Stark gene: DBR1 was added
gene: DBR1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: DBR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DBR1 were set to 29474921
Phenotypes for gene: DBR1 were set to Viral infections of the brainstem
Review for gene: DBR1 was set to GREEN
Added comment: Seven individuals from three unrelated families with viral brainstem encephalitis and bi-allelic hypomorphic variants.
Sources: Expert list
Susceptibility to Viral Infections v0.21 DBR1 Zornitza Stark gene: DBR1 was added
gene: DBR1 was added to Susceptibility to Viral Infections. Sources: Expert list
Mode of inheritance for gene: DBR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DBR1 were set to 29474921
Phenotypes for gene: DBR1 were set to Viral infections of the brainstem
Review for gene: DBR1 was set to GREEN
Added comment: Seven individuals from three unrelated families with viral brainstem encephalitis and bi-allelic hypomorphic variants.
Sources: Expert list
Mendeliome v0.1984 POLR3F Zornitza Stark Marked gene: POLR3F as ready
Mendeliome v0.1984 POLR3F Zornitza Stark Gene: polr3f has been classified as Red List (Low Evidence).
Mendeliome v0.1984 POLR3F Zornitza Stark gene: POLR3F was added
gene: POLR3F was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: POLR3F was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLR3F were set to 30211253
Phenotypes for gene: POLR3F were set to Severe VZV infection
Review for gene: POLR3F was set to RED
Added comment: Missense variant identified in a pair of monozygotic twins. Variant was paternally inherited.
Sources: Expert list
Susceptibility to Viral Infections v0.20 POLR3F Zornitza Stark Marked gene: POLR3F as ready
Susceptibility to Viral Infections v0.20 POLR3F Zornitza Stark Gene: polr3f has been classified as Red List (Low Evidence).
Susceptibility to Viral Infections v0.20 POLR3F Zornitza Stark gene: POLR3F was added
gene: POLR3F was added to Susceptibility to Viral Infections. Sources: Expert list
Mode of inheritance for gene: POLR3F was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLR3F were set to 30211253
Phenotypes for gene: POLR3F were set to Severe VZV infection
Review for gene: POLR3F was set to RED
Added comment: Missense variant identified in a pair of monozygotic twins. Variant was paternally inherited.
Sources: Expert list
Mendeliome v0.1983 POLR3C Zornitza Stark Marked gene: POLR3C as ready
Mendeliome v0.1983 POLR3C Zornitza Stark Gene: polr3c has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1983 POLR3C Zornitza Stark Classified gene: POLR3C as Amber List (moderate evidence)
Mendeliome v0.1983 POLR3C Zornitza Stark Gene: polr3c has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1982 POLR3C Zornitza Stark gene: POLR3C was added
gene: POLR3C was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: POLR3C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLR3C were set to 28783042
Phenotypes for gene: POLR3C were set to Severe VZV infection
Review for gene: POLR3C was set to AMBER
Added comment: One individual with POLR3C variant and another individual with both POL3RA and POL3RC variants.
Sources: Expert list
Susceptibility to Viral Infections v0.19 POLR3C Zornitza Stark Classified gene: POLR3C as Amber List (moderate evidence)
Susceptibility to Viral Infections v0.19 POLR3C Zornitza Stark Gene: polr3c has been classified as Amber List (Moderate Evidence).
Susceptibility to Viral Infections v0.18 POLR3C Zornitza Stark gene: POLR3C was added
gene: POLR3C was added to Susceptibility to Viral Infections. Sources: Expert list
Mode of inheritance for gene: POLR3C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLR3C were set to 28783042
Phenotypes for gene: POLR3C were set to Severe VZV infection
Review for gene: POLR3C was set to AMBER
Added comment: One individual with POLR3C variant and another individual with both POL3RA and POL3RC variants.
Sources: Expert list
Mendeliome v0.1981 POLR3A Zornitza Stark Marked gene: POLR3A as ready
Mendeliome v0.1981 POLR3A Zornitza Stark Gene: polr3a has been classified as Green List (High Evidence).
Mendeliome v0.1981 POLR3A Zornitza Stark Phenotypes for gene: POLR3A were changed from to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 607694; Wiedemann-Rautenstrauch syndrome, MIM# 264090; Susceptibility to severe VZV infection
Mendeliome v0.1980 POLR3A Zornitza Stark Mode of inheritance for gene: POLR3A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1979 POLR3A Zornitza Stark reviewed gene: POLR3A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 607694, Wiedemann-Rautenstrauch syndrome, MIM# 264090, Susceptibility to severe VZV infection; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Susceptibility to Viral Infections v0.17 POLR3A Zornitza Stark Marked gene: POLR3A as ready
Susceptibility to Viral Infections v0.17 POLR3A Zornitza Stark Gene: polr3a has been classified as Amber List (Moderate Evidence).
Susceptibility to Viral Infections v0.17 POLR3A Zornitza Stark Classified gene: POLR3A as Amber List (moderate evidence)
Susceptibility to Viral Infections v0.17 POLR3A Zornitza Stark Gene: polr3a has been classified as Amber List (Moderate Evidence).
Susceptibility to Viral Infections v0.16 POLR3A Zornitza Stark gene: POLR3A was added
gene: POLR3A was added to Susceptibility to Viral Infections. Sources: Expert list
Mode of inheritance for gene: POLR3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLR3A were set to 28783042; 29728610
Phenotypes for gene: POLR3A were set to Severe VZV infection
Review for gene: POLR3A was set to AMBER
Added comment: Two individuals with mono allelic POLR3A variants and another individual with both POLR3A and a POLR3C variants reported.
Sources: Expert list
Susceptibility to Viral Infections v0.15 IFIH1 Zornitza Stark Marked gene: IFIH1 as ready
Susceptibility to Viral Infections v0.15 IFIH1 Zornitza Stark Gene: ifih1 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.15 IFIH1 Zornitza Stark Classified gene: IFIH1 as Green List (high evidence)
Susceptibility to Viral Infections v0.15 IFIH1 Zornitza Stark Gene: ifih1 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.14 IFIH1 Zornitza Stark gene: IFIH1 was added
gene: IFIH1 was added to Susceptibility to Viral Infections. Sources: Expert list
Mode of inheritance for gene: IFIH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: IFIH1 were set to 28716935; 29018476
Phenotypes for gene: IFIH1 were set to Severe viral respiratory infections; Rhinovirus and other RNA viruses
Review for gene: IFIH1 was set to GREEN
Added comment: Three unrelated individuals with mono allelic LoF variants reported from a cohort of children admitted to ICU with severe respiratory infections (PMID:28716935). Another individual with bi-allelic variants and recurrent and prolonged infections also reported (PMID: 29018476)
Sources: Expert list
Mendeliome v0.1979 IFNAR2 Zornitza Stark Marked gene: IFNAR2 as ready
Mendeliome v0.1979 IFNAR2 Zornitza Stark Gene: ifnar2 has been classified as Red List (Low Evidence).
Mendeliome v0.1979 IFNAR2 Zornitza Stark Phenotypes for gene: IFNAR2 were changed from to Immunodeficiency 45, MIM# 616669
Mendeliome v0.1978 IFNAR2 Zornitza Stark Publications for gene: IFNAR2 were set to
Mendeliome v0.1977 IFNAR2 Zornitza Stark Mode of inheritance for gene: IFNAR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1976 IFNAR2 Zornitza Stark Classified gene: IFNAR2 as Red List (low evidence)
Mendeliome v0.1976 IFNAR2 Zornitza Stark Gene: ifnar2 has been classified as Red List (Low Evidence).
Mendeliome v0.1975 IFNAR2 Zornitza Stark reviewed gene: IFNAR2: Rating: RED; Mode of pathogenicity: None; Publications: 26424569; Phenotypes: Immunodeficiency 45, MIM# 616669; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Susceptibility to Viral Infections v0.13 IFNAR2 Zornitza Stark Marked gene: IFNAR2 as ready
Susceptibility to Viral Infections v0.13 IFNAR2 Zornitza Stark Gene: ifnar2 has been classified as Red List (Low Evidence).
Susceptibility to Viral Infections v0.13 IFNAR2 Zornitza Stark gene: IFNAR2 was added
gene: IFNAR2 was added to Susceptibility to Viral Infections. Sources: Expert list
Mode of inheritance for gene: IFNAR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFNAR2 were set to 26424569
Phenotypes for gene: IFNAR2 were set to Immunodeficiency 45, MIM# 616669
Review for gene: IFNAR2 was set to RED
Added comment: Single individual reported.
Sources: Expert list
Mendeliome v0.1975 IFNAR1 Zornitza Stark Marked gene: IFNAR1 as ready
Mendeliome v0.1975 IFNAR1 Zornitza Stark Gene: ifnar1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1975 IFNAR1 Zornitza Stark Classified gene: IFNAR1 as Amber List (moderate evidence)
Mendeliome v0.1975 IFNAR1 Zornitza Stark Gene: ifnar1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1974 IFNAR1 Zornitza Stark gene: IFNAR1 was added
gene: IFNAR1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: IFNAR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFNAR1 were set to 31270247
Phenotypes for gene: IFNAR1 were set to Severe disease caused by Yellow Fever vaccine and Measles vaccine
Review for gene: IFNAR1 was set to AMBER
Added comment: Two unrelated individuals reported with bi-allelic LoF variants, some functional data.
Sources: Expert list
Susceptibility to Viral Infections v0.12 IFNAR1 Zornitza Stark Marked gene: IFNAR1 as ready
Susceptibility to Viral Infections v0.12 IFNAR1 Zornitza Stark Gene: ifnar1 has been classified as Amber List (Moderate Evidence).
Susceptibility to Viral Infections v0.12 IFNAR1 Zornitza Stark Classified gene: IFNAR1 as Amber List (moderate evidence)
Susceptibility to Viral Infections v0.12 IFNAR1 Zornitza Stark Gene: ifnar1 has been classified as Amber List (Moderate Evidence).
Susceptibility to Viral Infections v0.11 IFNAR1 Zornitza Stark gene: IFNAR1 was added
gene: IFNAR1 was added to Susceptibility to Viral Infections. Sources: Expert list
Mode of inheritance for gene: IFNAR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFNAR1 were set to 31270247
Phenotypes for gene: IFNAR1 were set to Severe disease caused by Yellow Fever vaccine and Measles vaccine
Review for gene: IFNAR1 was set to AMBER
Added comment: Two unrelated individuals reported with bi-allelic LoF variants, some functional data.
Sources: Expert list
Mendeliome v0.1973 IRF9 Zornitza Stark Marked gene: IRF9 as ready
Mendeliome v0.1973 IRF9 Zornitza Stark Gene: irf9 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1973 IRF9 Zornitza Stark Classified gene: IRF9 as Amber List (moderate evidence)
Mendeliome v0.1973 IRF9 Zornitza Stark Gene: irf9 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1972 IRF9 Zornitza Stark gene: IRF9 was added
gene: IRF9 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: IRF9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IRF9 were set to 30826365; 30143481
Phenotypes for gene: IRF9 were set to Immunodeficiency 65, susceptibility to viral infections 618648
Review for gene: IRF9 was set to AMBER
Added comment: Two families reported.
Sources: Expert list
Susceptibility to Viral Infections v0.10 IRF9 Zornitza Stark Marked gene: IRF9 as ready
Susceptibility to Viral Infections v0.10 IRF9 Zornitza Stark Gene: irf9 has been classified as Amber List (Moderate Evidence).
Susceptibility to Viral Infections v0.10 IRF9 Zornitza Stark Classified gene: IRF9 as Amber List (moderate evidence)
Susceptibility to Viral Infections v0.10 IRF9 Zornitza Stark Gene: irf9 has been classified as Amber List (Moderate Evidence).
Susceptibility to Viral Infections v0.9 IRF9 Zornitza Stark gene: IRF9 was added
gene: IRF9 was added to Susceptibility to Viral Infections. Sources: Expert list
Mode of inheritance for gene: IRF9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IRF9 were set to 30826365; 30143481
Phenotypes for gene: IRF9 were set to Immunodeficiency 65, susceptibility to viral infections 618648
Review for gene: IRF9 was set to AMBER
Added comment: Two families reported.
Sources: Expert list
Susceptibility to Viral Infections v0.8 Zornitza Stark Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Rare Disease
Mendeliome v0.1971 CIB1 Zornitza Stark Marked gene: CIB1 as ready
Mendeliome v0.1971 CIB1 Zornitza Stark Gene: cib1 has been classified as Green List (High Evidence).
Mendeliome v0.1971 CIB1 Zornitza Stark Classified gene: CIB1 as Green List (high evidence)
Mendeliome v0.1971 CIB1 Zornitza Stark Gene: cib1 has been classified as Green List (High Evidence).
Mendeliome v0.1970 CIB1 Zornitza Stark gene: CIB1 was added
gene: CIB1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: CIB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CIB1 were set to 30068544
Phenotypes for gene: CIB1 were set to Epidermodysplasia verruciformis 3 618267; HPV infections and cancer of the skin
Review for gene: CIB1 was set to GREEN
Added comment: 24 individuals from 6 families reported.
Sources: Expert list
Defects of intrinsic and innate immunity v0.14 CIB1 Zornitza Stark Marked gene: CIB1 as ready
Defects of intrinsic and innate immunity v0.14 CIB1 Zornitza Stark Gene: cib1 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.14 CIB1 Zornitza Stark Classified gene: CIB1 as Green List (high evidence)
Defects of intrinsic and innate immunity v0.14 CIB1 Zornitza Stark Gene: cib1 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.13 CIB1 Zornitza Stark gene: CIB1 was added
gene: CIB1 was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: CIB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CIB1 were set to 30068544
Phenotypes for gene: CIB1 were set to Epidermodysplasia verruciformis 3 618267; HPV infections and cancer of the skin
Review for gene: CIB1 was set to GREEN
Added comment: 24 individuals from 6 families reported.
Sources: Expert list
Defects of intrinsic and innate immunity v0.12 JAK1 Zornitza Stark Marked gene: JAK1 as ready
Defects of intrinsic and innate immunity v0.12 JAK1 Zornitza Stark Gene: jak1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1969 JAK1 Zornitza Stark Phenotypes for gene: JAK1 were changed from Eosinophilia; Eosinophilic enteritis; Thyroid disease; Poor growth; Viral infections to Eosinophilia; Eosinophilic enteritis; Thyroid disease; Poor growth; Viral infections; Susceptibility to mycobacteria and viruses
Mendeliome v0.1968 JAK1 Zornitza Stark Publications for gene: JAK1 were set to 28111307
Mendeliome v0.1967 JAK1 Zornitza Stark Mode of inheritance for gene: JAK1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1966 JAK1 Zornitza Stark Classified gene: JAK1 as Amber List (moderate evidence)
Mendeliome v0.1966 JAK1 Zornitza Stark Gene: jak1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1965 JAK1 Zornitza Stark changed review comment from: Single family reported (mother and two children) with GoF variant.
Sources: Expert list; to: Single family reported (mother and two children) with GoF variant and immune dysregulation phenotype. Another individual reported with bi-allelic LoF and susceptibility to mycobacterial infections. Mouse model with NK defect.
Sources: Expert list
Mendeliome v0.1965 JAK1 Zornitza Stark edited their review of gene: JAK1: Changed rating: AMBER; Changed publications: 28111307, 28008925, 30671064; Changed phenotypes: Eosinophilia, Eosinophilic enteritis, Thyroid disease, Poor growth, Viral infections, Susceptibility to mycobacteria and viruses; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.12 JAK1 Zornitza Stark Classified gene: JAK1 as Amber List (moderate evidence)
Defects of intrinsic and innate immunity v0.12 JAK1 Zornitza Stark Gene: jak1 has been classified as Amber List (Moderate Evidence).
Defects of intrinsic and innate immunity v0.11 JAK1 Zornitza Stark gene: JAK1 was added
gene: JAK1 was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: JAK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: JAK1 were set to 28008925; 30671064
Phenotypes for gene: JAK1 were set to Susceptibility to mycobacteria and viruses
Review for gene: JAK1 was set to AMBER
Added comment: Single individual reported, mouse model with NK cell defect.
Sources: Expert list
Mendeliome v0.1965 SPPL2A Zornitza Stark Marked gene: SPPL2A as ready
Mendeliome v0.1965 SPPL2A Zornitza Stark Gene: sppl2a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1965 SPPL2A Zornitza Stark Classified gene: SPPL2A as Amber List (moderate evidence)
Mendeliome v0.1965 SPPL2A Zornitza Stark Gene: sppl2a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1964 SPPL2A Zornitza Stark gene: SPPL2A was added
gene: SPPL2A was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: SPPL2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPPL2A were set to 30127434
Phenotypes for gene: SPPL2A were set to Susceptibility to mycobacteria and Salmonella
Review for gene: SPPL2A was set to AMBER
Added comment: Three individuals from two unrelated consanguineous family with two different homozygous splice site variants, functional data.
Sources: Expert list
Defects of intrinsic and innate immunity v0.10 SPPL2A Zornitza Stark Marked gene: SPPL2A as ready
Defects of intrinsic and innate immunity v0.10 SPPL2A Zornitza Stark Gene: sppl2a has been classified as Amber List (Moderate Evidence).
Defects of intrinsic and innate immunity v0.10 SPPL2A Zornitza Stark Classified gene: SPPL2A as Amber List (moderate evidence)
Defects of intrinsic and innate immunity v0.10 SPPL2A Zornitza Stark Gene: sppl2a has been classified as Amber List (Moderate Evidence).
Defects of intrinsic and innate immunity v0.9 SPPL2A Zornitza Stark gene: SPPL2A was added
gene: SPPL2A was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: SPPL2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPPL2A were set to 30127434
Phenotypes for gene: SPPL2A were set to Susceptibility to mycobacteria and Salmonella
Review for gene: SPPL2A was set to AMBER
Added comment: Three individuals from two unrelated consanguineous family with two different homozygous splice site variants, functional data.
Sources: Expert list
Mendeliome v0.1963 IL23R Zornitza Stark Marked gene: IL23R as ready
Mendeliome v0.1963 IL23R Zornitza Stark Gene: il23r has been classified as Red List (Low Evidence).
Mendeliome v0.1963 IL23R Zornitza Stark Phenotypes for gene: IL23R were changed from to Susceptibility to mycobacteria and Salmonella
Mendeliome v0.1962 IL23R Zornitza Stark Publications for gene: IL23R were set to
Mendeliome v0.1961 IL23R Zornitza Stark Mode of inheritance for gene: IL23R was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1960 IL23R Zornitza Stark Classified gene: IL23R as Red List (low evidence)
Mendeliome v0.1960 IL23R Zornitza Stark Gene: il23r has been classified as Red List (Low Evidence).
Mendeliome v0.1959 IL23R Zornitza Stark reviewed gene: IL23R: Rating: RED; Mode of pathogenicity: None; Publications: 30578351; Phenotypes: Susceptibility to mycobacteria and Salmonella; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.8 IL23R Zornitza Stark Marked gene: IL23R as ready
Defects of intrinsic and innate immunity v0.8 IL23R Zornitza Stark Gene: il23r has been classified as Red List (Low Evidence).
Defects of intrinsic and innate immunity v0.8 IL23R Zornitza Stark gene: IL23R was added
gene: IL23R was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: IL23R was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL23R were set to 30578351
Phenotypes for gene: IL23R were set to Susceptibility to mycobacteria and Salmonella
Review for gene: IL23R was set to RED
Added comment: Single family reported.
Sources: Expert list
Mendeliome v0.1959 IL12RB2 Zornitza Stark Marked gene: IL12RB2 as ready
Mendeliome v0.1959 IL12RB2 Zornitza Stark Gene: il12rb2 has been classified as Red List (Low Evidence).
Mendeliome v0.1959 IL12RB2 Zornitza Stark gene: IL12RB2 was added
gene: IL12RB2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: IL12RB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL12RB2 were set to 30578351
Phenotypes for gene: IL12RB2 were set to Susceptibility to mycobacteria and Salmonella
Review for gene: IL12RB2 was set to RED
Added comment: Single individual reported, some functional data.
Sources: Expert list
Dystonia and Chorea v0.20 GAMT Bryony Thompson gene: GAMT was added
gene: GAMT was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: GAMT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GAMT were set to 19027335
Phenotypes for gene: GAMT were set to Cerebral creatine deficiency syndrome 2 MIM#612736
Review for gene: GAMT was set to RED
Added comment: Dystonia is not a prominent feature of the condition. A single case has been reported with dystonia as part of the phenotype.
Sources: Expert list
Defects of intrinsic and innate immunity v0.7 IL12RB2 Zornitza Stark Marked gene: IL12RB2 as ready
Defects of intrinsic and innate immunity v0.7 IL12RB2 Zornitza Stark Gene: il12rb2 has been classified as Red List (Low Evidence).
Defects of intrinsic and innate immunity v0.7 IL12RB2 Zornitza Stark gene: IL12RB2 was added
gene: IL12RB2 was added to Defects of innate immunity. Sources: Expert list
Mode of inheritance for gene: IL12RB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL12RB2 were set to 30578351
Phenotypes for gene: IL12RB2 were set to Susceptibility to mycobacteria and Salmonella
Review for gene: IL12RB2 was set to RED
Added comment: Single individual reported, some functional data.
Sources: Expert list
Dystonia and Chorea v0.19 FBXL4 Bryony Thompson Marked gene: FBXL4 as ready
Dystonia and Chorea v0.19 FBXL4 Bryony Thompson Gene: fbxl4 has been classified as Amber List (Moderate Evidence).
Dystonia and Chorea v0.19 FBXL4 Bryony Thompson Classified gene: FBXL4 as Amber List (moderate evidence)
Dystonia and Chorea v0.19 FBXL4 Bryony Thompson Gene: fbxl4 has been classified as Amber List (Moderate Evidence).
Dystonia and Chorea v0.18 FBXL4 Bryony Thompson changed review comment from: Cannot find evidence that dystonia is a prominent feature of the condition.
Sources: Expert list; to: Dystonia is a feature of the phenotype in three out of nine cases with biallelic variants.
Sources: Expert list
Dystonia and Chorea v0.18 FBXL4 Bryony Thompson edited their review of gene: FBXL4: Changed rating: AMBER
Dystonia and Chorea v0.18 FBXL4 Bryony Thompson gene: FBXL4 was added
gene: FBXL4 was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: FBXL4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FBXL4 were set to Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) MIM#615471
Review for gene: FBXL4 was set to RED
Added comment: Cannot find evidence that dystonia is a prominent feature of the condition.
Sources: Expert list
Dystonia and Chorea v0.17 EARS2 Bryony Thompson gene: EARS2 was added
gene: EARS2 was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: EARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EARS2 were set to 22492562
Phenotypes for gene: EARS2 were set to Combined oxidative phosphorylation deficiency 12 MIM#614924
Review for gene: EARS2 was set to RED
Added comment: Dystonia does not appear to be a prominent feature of the condition.
Sources: Expert list
Dystonia and Chorea v0.16 DCTN1 Bryony Thompson Marked gene: DCTN1 as ready
Dystonia and Chorea v0.16 DCTN1 Bryony Thompson Gene: dctn1 has been classified as Red List (Low Evidence).
Dystonia and Chorea v0.16 DCTN1 Bryony Thompson gene: DCTN1 was added
gene: DCTN1 was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: DCTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DCTN1 were set to 24343258
Phenotypes for gene: DCTN1 were set to Perry syndrome MIM#168605
Review for gene: DCTN1 was set to RED
Added comment: Dystonia is reported in two out of eight cases in a single family.
Sources: Expert list
Defects of intrinsic and innate immunity v0.6 Zornitza Stark Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Rare Disease
Dystonia and Chorea v0.15 CHMP2B Bryony Thompson reviewed gene: CHMP2B: Rating: RED; Mode of pathogenicity: None; Publications: 12451202; Phenotypes: Dementia, familial, nonspecific MIM#600795; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1958 C17orf62 Zornitza Stark Marked gene: C17orf62 as ready
Mendeliome v0.1958 C17orf62 Zornitza Stark Gene: c17orf62 has been classified as Green List (High Evidence).
Mendeliome v0.1958 C17orf62 Zornitza Stark Classified gene: C17orf62 as Green List (high evidence)
Mendeliome v0.1958 C17orf62 Zornitza Stark Gene: c17orf62 has been classified as Green List (High Evidence).
Mendeliome v0.1957 C17orf62 Zornitza Stark gene: C17orf62 was added
gene: C17orf62 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: C17orf62 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C17orf62 were set to 30361506; 30312704; 28351984
Phenotypes for gene: C17orf62 were set to Chronic granulomatous disease
Review for gene: C17orf62 was set to GREEN
Added comment: Seven Icelandic families reported with same homozygous variant, p.Tyr2Ter and an additional family from different ethnic background with different homozygous splice site variant. Functional data, including mouse model. Gene also known as EROS and CYBC1 (HGNC approved name)
Sources: Expert list
Phagocyte Defects v0.27 C17orf62 Zornitza Stark Marked gene: C17orf62 as ready
Phagocyte Defects v0.27 C17orf62 Zornitza Stark Gene: c17orf62 has been classified as Green List (High Evidence).
Phagocyte Defects v0.27 C17orf62 Zornitza Stark Classified gene: C17orf62 as Green List (high evidence)
Phagocyte Defects v0.27 C17orf62 Zornitza Stark Gene: c17orf62 has been classified as Green List (High Evidence).
Phagocyte Defects v0.26 C17orf62 Zornitza Stark gene: C17orf62 was added
gene: C17orf62 was added to Phagocyte Defects. Sources: Expert list
Mode of inheritance for gene: C17orf62 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C17orf62 were set to 30361506; 30312704; 28351984
Phenotypes for gene: C17orf62 were set to Chronic granulomatous disease
Review for gene: C17orf62 was set to GREEN
Added comment: Seven Icelandic families reported with same homozygous variant, p.Tyr2Ter and an additional family from different ethnic background with different homozygous splice site variant. Functional data, including mouse model. Gene also known as EROS and CYBC1 (HGNC approved name).
Sources: Expert list
Mendeliome v0.1956 MKL1 Zornitza Stark Marked gene: MKL1 as ready
Mendeliome v0.1956 MKL1 Zornitza Stark Gene: mkl1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1956 MKL1 Zornitza Stark Classified gene: MKL1 as Amber List (moderate evidence)
Mendeliome v0.1956 MKL1 Zornitza Stark Gene: mkl1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1955 MKL1 Zornitza Stark gene: MKL1 was added
gene: MKL1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: MKL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MKL1 were set to 32128589; 26224645
Phenotypes for gene: MKL1 were set to Neutropaenia with combined immune deficiency
Review for gene: MKL1 was set to AMBER
Added comment: Two unrelated families reported.
Sources: Expert list
Phagocyte Defects v0.25 MKL1 Zornitza Stark Classified gene: MKL1 as Amber List (moderate evidence)
Phagocyte Defects v0.25 MKL1 Zornitza Stark Gene: mkl1 has been classified as Amber List (Moderate Evidence).
Phagocyte Defects v0.24 MKL1 Zornitza Stark gene: MKL1 was added
gene: MKL1 was added to Phagocyte Defects. Sources: Expert list
Mode of inheritance for gene: MKL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MKL1 were set to 32128589; 26224645
Phenotypes for gene: MKL1 were set to Neutropaenia with combined immune deficiency
Review for gene: MKL1 was set to AMBER
Added comment: Two unrelated families reported.
Sources: Expert list
Phagocyte Defects v0.23 WDR1 Zornitza Stark Phenotypes for gene: WDR1 were changed from Neutrpaenia; Poor wound healing; Severe stomatitis; Neutrophil nuclei herniate to Neutropaenia; Poor wound healing; Severe stomatitis; Neutrophil nuclei herniate
Phagocyte Defects v0.22 WDR1 Zornitza Stark Marked gene: WDR1 as ready
Phagocyte Defects v0.22 WDR1 Zornitza Stark Gene: wdr1 has been classified as Green List (High Evidence).
Phagocyte Defects v0.22 WDR1 Zornitza Stark Phenotypes for gene: WDR1 were changed from to Neutrpaenia; Poor wound healing; Severe stomatitis; Neutrophil nuclei herniate
Phagocyte Defects v0.21 WDR1 Zornitza Stark Classified gene: WDR1 as Green List (high evidence)
Phagocyte Defects v0.21 WDR1 Zornitza Stark Gene: wdr1 has been classified as Green List (High Evidence).
Phagocyte Defects v0.20 WDR1 Zornitza Stark gene: WDR1 was added
gene: WDR1 was added to Phagocyte Defects. Sources: Expert list
Mode of inheritance for gene: WDR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR1 were set to 27994071; 27557945; 29751004
Review for gene: WDR1 was set to GREEN
Added comment: Seven families reported with immunological phenotypes and bi-allelic variants in this gene, three of these had a predominantly phagocyte/neutrophil defects.
Sources: Expert list
Dystonia and Chorea v0.15 CACNA1A Bryony Thompson Classified gene: CACNA1A as Green List (high evidence)
Dystonia and Chorea v0.15 CACNA1A Bryony Thompson Gene: cacna1a has been classified as Green List (High Evidence).
Dystonia and Chorea v0.14 CACNA1A Bryony Thompson gene: CACNA1A was added
gene: CACNA1A was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNA1A were set to 25468264; 23441182; 19232643; 18758887; 11344116
Phenotypes for gene: CACNA1A were set to Episodic ataxia, type 2 MIM#108500; Spinocerebellar ataxia 6 MIM#183086
Review for gene: CACNA1A was set to GREEN
Added comment: At least four families where dystonia is a feature of the condition (complex dystonia phenotype), and knockout mouse model also has dystonia as a feature of the phenotype.
Sources: Expert list
Phagocyte Defects v0.19 RAC2 Zornitza Stark Marked gene: RAC2 as ready
Phagocyte Defects v0.19 RAC2 Zornitza Stark Gene: rac2 has been classified as Green List (High Evidence).
Phagocyte Defects v0.19 RAC2 Zornitza Stark Phenotypes for gene: RAC2 were changed from to Neutrophil immunodeficiency syndrome, MIM# 608203; Common variable immunodeficiency
Phagocyte Defects v0.18 RAC2 Zornitza Stark Publications for gene: RAC2 were set to
Phagocyte Defects v0.18 RAC2 Zornitza Stark Mode of inheritance for gene: RAC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phagocyte Defects v0.17 RAC2 Zornitza Stark reviewed gene: RAC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25512081; Phenotypes: Neutrophil immunodeficiency syndrome, MIM# 608203, Common variable immunodeficiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Predominantly Antibody Deficiency v0.31 RAC2 Zornitza Stark edited their review of gene: RAC2: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phagocyte Defects v0.17 SRP54 Zornitza Stark Marked gene: SRP54 as ready
Phagocyte Defects v0.17 SRP54 Zornitza Stark Gene: srp54 has been classified as Green List (High Evidence).
Phagocyte Defects v0.17 SRP54 Zornitza Stark Classified gene: SRP54 as Green List (high evidence)
Phagocyte Defects v0.17 SRP54 Zornitza Stark Gene: srp54 has been classified as Green List (High Evidence).
Phagocyte Defects v0.16 SRP54 Zornitza Stark gene: SRP54 was added
gene: SRP54 was added to Phagocyte Defects. Sources: Expert list
Mode of inheritance for gene: SRP54 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SRP54 were set to 29914977; 28972538
Phenotypes for gene: SRP54 were set to Neutropenia, severe congenital, 8, autosomal dominant, MIM# 618752
Review for gene: SRP54 was set to GREEN
Added comment: Over 25 individuals reported with Shwachman-Diamond like phenotype.
Sources: Expert list
Mendeliome v0.1954 HYOU1 Zornitza Stark Marked gene: HYOU1 as ready
Mendeliome v0.1954 HYOU1 Zornitza Stark Gene: hyou1 has been classified as Red List (Low Evidence).
Mendeliome v0.1954 HYOU1 Zornitza Stark gene: HYOU1 was added
gene: HYOU1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: HYOU1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HYOU1 were set to 27913302
Phenotypes for gene: HYOU1 were set to Immunodeficiency 59 and hypoglycemia, MIM# 233600
Review for gene: HYOU1 was set to RED
Added comment: Single individual reported.
Sources: Expert list
Phagocyte Defects v0.15 HYOU1 Zornitza Stark Marked gene: HYOU1 as ready
Phagocyte Defects v0.15 HYOU1 Zornitza Stark Gene: hyou1 has been classified as Red List (Low Evidence).
Phagocyte Defects v0.15 HYOU1 Zornitza Stark gene: HYOU1 was added
gene: HYOU1 was added to Phagocyte Defects. Sources: Expert list
Mode of inheritance for gene: HYOU1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HYOU1 were set to 27913302
Phenotypes for gene: HYOU1 were set to Immunodeficiency 59 and hypoglycemia, MIM# 233600
Review for gene: HYOU1 was set to RED
Added comment: Single individual reported.
Sources: Expert list
Phagocyte Defects v0.14 EFL1 Zornitza Stark Marked gene: EFL1 as ready
Phagocyte Defects v0.14 EFL1 Zornitza Stark Gene: efl1 has been classified as Green List (High Evidence).
Phagocyte Defects v0.14 EFL1 Zornitza Stark Classified gene: EFL1 as Green List (high evidence)
Phagocyte Defects v0.14 EFL1 Zornitza Stark Gene: efl1 has been classified as Green List (High Evidence).
Phagocyte Defects v0.13 EFL1 Zornitza Stark gene: EFL1 was added
gene: EFL1 was added to Phagocyte Defects. Sources: Expert list
Mode of inheritance for gene: EFL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EFL1 were set to 28331068; 31151987
Phenotypes for gene: EFL1 were set to Shwachman-Diamond syndrome 2, MIM# 617941
Review for gene: EFL1 was set to GREEN
Added comment: Six unrelated families reported, two had the same homozygous variant, one family single variant plus 'expression defect' identified.
Sources: Expert list
Phagocyte Defects v0.12 DNAJC21 Zornitza Stark Marked gene: DNAJC21 as ready
Phagocyte Defects v0.12 DNAJC21 Zornitza Stark Gene: dnajc21 has been classified as Green List (High Evidence).
Phagocyte Defects v0.12 DNAJC21 Zornitza Stark Classified gene: DNAJC21 as Green List (high evidence)
Phagocyte Defects v0.12 DNAJC21 Zornitza Stark Gene: dnajc21 has been classified as Green List (High Evidence).
Phagocyte Defects v0.11 DNAJC21 Zornitza Stark gene: DNAJC21 was added
gene: DNAJC21 was added to Phagocyte Defects. Sources: Expert list
Mode of inheritance for gene: DNAJC21 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJC21 were set to 29700810; 28062395; 27346687
Phenotypes for gene: DNAJC21 were set to Bone marrow failure syndrome 3, MIM# 617052; Short stature; Exocrine pancreatic insufficiency; Pancytopaenia; Shwachman-Diamond syndrome
Review for gene: DNAJC21 was set to GREEN
Added comment: Over ten unrelated families reported.
Sources: Expert list
Mendeliome v0.1953 SMARCD2 Zornitza Stark Marked gene: SMARCD2 as ready
Mendeliome v0.1953 SMARCD2 Zornitza Stark Gene: smarcd2 has been classified as Green List (High Evidence).
Mendeliome v0.1953 SMARCD2 Zornitza Stark Classified gene: SMARCD2 as Green List (high evidence)
Mendeliome v0.1953 SMARCD2 Zornitza Stark Gene: smarcd2 has been classified as Green List (High Evidence).
Mendeliome v0.1952 SMARCD2 Zornitza Stark gene: SMARCD2 was added
gene: SMARCD2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: SMARCD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMARCD2 were set to 28369036; 28369034
Phenotypes for gene: SMARCD2 were set to Specific granule deficiency 2, MIM# 617475; Neutropaenia; Neurodevelopmental abnormalities in some; Myelodysplasia
Review for gene: SMARCD2 was set to GREEN
Added comment: Three unrelated families and functional data.
Sources: Expert list
Phagocyte Defects v0.10 SMARCD2 Zornitza Stark Marked gene: SMARCD2 as ready
Phagocyte Defects v0.10 SMARCD2 Zornitza Stark Gene: smarcd2 has been classified as Green List (High Evidence).
Phagocyte Defects v0.10 SMARCD2 Zornitza Stark Classified gene: SMARCD2 as Green List (high evidence)
Phagocyte Defects v0.10 SMARCD2 Zornitza Stark Gene: smarcd2 has been classified as Green List (High Evidence).
Phagocyte Defects v0.9 SMARCD2 Zornitza Stark gene: SMARCD2 was added
gene: SMARCD2 was added to Phagocyte Defects. Sources: Expert list
Mode of inheritance for gene: SMARCD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMARCD2 were set to 28369036; 28369034
Phenotypes for gene: SMARCD2 were set to Specific granule deficiency 2, MIM# 617475; Neutropaenia; Neurodevelopmental abnormalities in some; Myelodysplasia
Review for gene: SMARCD2 was set to GREEN
Added comment: Three unrelated families and functional data.
Sources: Expert list
Dystonia and Chorea v0.13 AFG3L2 Bryony Thompson gene: AFG3L2 was added
gene: AFG3L2 was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: AFG3L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AFG3L2 were set to 22964162; 16541453
Phenotypes for gene: AFG3L2 were set to Spastic ataxia 5, autosomal recessive MIM#614487
Review for gene: AFG3L2 was set to RED
Added comment: Dystonia is not a prominent feature of this condition. There is a single family reported with complex dystonia. Dystonia was previously observed in a family whose affected members carried an 18p chromosomal deletion that included AFG3L2.
Sources: Expert list
Phagocyte Defects v0.8 Zornitza Stark Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Rare Disease
Disorders of immune dysregulation v0.45 MAGT1 Zornitza Stark Marked gene: MAGT1 as ready
Disorders of immune dysregulation v0.45 MAGT1 Zornitza Stark Gene: magt1 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.45 MAGT1 Zornitza Stark Classified gene: MAGT1 as Green List (high evidence)
Disorders of immune dysregulation v0.45 MAGT1 Zornitza Stark Gene: magt1 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.44 MAGT1 Zornitza Stark gene: MAGT1 was added
gene: MAGT1 was added to Disorders of immune dysregulation. Sources: Expert list
Mode of inheritance for gene: MAGT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: MAGT1 were set to 31036665; 25504528; 21796205; 24550228; 25956530
Phenotypes for gene: MAGT1 were set to Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, MIM# 300853
Review for gene: MAGT1 was set to GREEN
Added comment: Multiple unrelated individuals reported, some overlap with the CDG associated with his gene.
Sources: Expert list
Disorders of immune dysregulation v0.43 ITK Zornitza Stark Marked gene: ITK as ready
Disorders of immune dysregulation v0.43 ITK Zornitza Stark Gene: itk has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.43 ITK Zornitza Stark Classified gene: ITK as Green List (high evidence)
Disorders of immune dysregulation v0.43 ITK Zornitza Stark Gene: itk has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.42 ITK Zornitza Stark gene: ITK was added
gene: ITK was added to Disorders of immune dysregulation. Sources: Expert list
Mode of inheritance for gene: ITK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITK were set to 19425169; 22289921; 21109689
Phenotypes for gene: ITK were set to Lymphoproliferative syndrome 1, MIM# 613011; EBV associated B call lymphoproliferation, lymphoma
Review for gene: ITK was set to GREEN
Added comment: At least three unrelated families reported.
Sources: Expert list
Mendeliome v0.1951 TNFRSF9 Zornitza Stark Marked gene: TNFRSF9 as ready
Mendeliome v0.1951 TNFRSF9 Zornitza Stark Gene: tnfrsf9 has been classified as Green List (High Evidence).
Mendeliome v0.1951 TNFRSF9 Zornitza Stark Classified gene: TNFRSF9 as Green List (high evidence)
Mendeliome v0.1951 TNFRSF9 Zornitza Stark Gene: tnfrsf9 has been classified as Green List (High Evidence).
Mendeliome v0.1950 TNFRSF9 Zornitza Stark gene: TNFRSF9 was added
gene: TNFRSF9 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: TNFRSF9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TNFRSF9 were set to 30872117; 31501153
Phenotypes for gene: TNFRSF9 were set to EBV lymphoproliferation; B-cell lymphoma; Chronic active EBV infection
Review for gene: TNFRSF9 was set to GREEN
Added comment: Six unrelated individuals, two with same homozygous G109S missense variant, functional data.
Sources: Expert list
Dystonia and Chorea v0.12 Bryony Thompson Panel name changed from Dystonia - complex_RMH to Dystonia - complex
Panel types changed to Royal Melbourne Hospital; Rare Disease
Disorders of immune dysregulation v0.41 TNFRSF9 Zornitza Stark Marked gene: TNFRSF9 as ready
Disorders of immune dysregulation v0.41 TNFRSF9 Zornitza Stark Gene: tnfrsf9 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.41 TNFRSF9 Zornitza Stark Classified gene: TNFRSF9 as Green List (high evidence)
Disorders of immune dysregulation v0.41 TNFRSF9 Zornitza Stark Gene: tnfrsf9 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.40 TNFRSF9 Zornitza Stark changed review comment from: Two unrelated individuals with same homozygous G109S missense variant, some functional data.
Sources: Expert list; to: Six unrelated individuals, two with same homozygous G109S missense variant, functional data.
Sources: Expert list
Disorders of immune dysregulation v0.40 TNFRSF9 Zornitza Stark edited their review of gene: TNFRSF9: Changed rating: GREEN; Changed publications: 30872117, 31501153
Disorders of immune dysregulation v0.40 TNFRSF9 Zornitza Stark gene: TNFRSF9 was added
gene: TNFRSF9 was added to Disorders of immune dysregulation. Sources: Expert list
Mode of inheritance for gene: TNFRSF9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TNFRSF9 were set to 30872117
Phenotypes for gene: TNFRSF9 were set to EBV lymphoproliferation; B-cell lymphoma; Chronic active EBV infection
Review for gene: TNFRSF9 was set to RED
Added comment: Two unrelated individuals with same homozygous G109S missense variant, some functional data.
Sources: Expert list
Mendeliome v0.1949 CTPS1 Zornitza Stark Marked gene: CTPS1 as ready
Mendeliome v0.1949 CTPS1 Zornitza Stark Gene: ctps1 has been classified as Green List (High Evidence).
Mendeliome v0.1949 CTPS1 Zornitza Stark Phenotypes for gene: CTPS1 were changed from to Immunodeficiency 24, MIM# 615897; Recurrent/chronic bacterial and viral infections (EBV, VZV); EBV lymphoproliferation; B-cell non-Hodgkin lymphoma
Mendeliome v0.1948 CTPS1 Zornitza Stark Publications for gene: CTPS1 were set to
Mendeliome v0.1947 CTPS1 Zornitza Stark Mode of inheritance for gene: CTPS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1946 CTPS1 Zornitza Stark reviewed gene: CTPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24870241; Phenotypes: Immunodeficiency 24, MIM# 615897, Recurrent/chronic bacterial and viral infections (EBV, VZV), EBV lymphoproliferation, B-cell non-Hodgkin lymphoma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.39 CTPS1 Zornitza Stark Marked gene: CTPS1 as ready
Disorders of immune dysregulation v0.39 CTPS1 Zornitza Stark Gene: ctps1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.97 CTPS1 Zornitza Stark Marked gene: CTPS1 as ready
Combined Immunodeficiency v0.97 CTPS1 Zornitza Stark Gene: ctps1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.97 CTPS1 Zornitza Stark Phenotypes for gene: CTPS1 were changed from to Immunodeficiency 24, MIM# 615897; Recurrent/chronic bacterial and viral infections (EBV, VZV); EBV lymphoproliferation; B-cell non-Hodgkin lymphoma
Combined Immunodeficiency v0.96 CTPS1 Zornitza Stark Publications for gene: CTPS1 were set to
Combined Immunodeficiency v0.95 CTPS1 Zornitza Stark Mode of inheritance for gene: CTPS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.94 CTPS1 Zornitza Stark reviewed gene: CTPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24870241; Phenotypes: Immunodeficiency 24, MIM# 615897, Recurrent/chronic bacterial and viral infections (EBV, VZV), EBV lymphoproliferation, B-cell non-Hodgkin lymphoma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.39 CTPS1 Zornitza Stark Classified gene: CTPS1 as Green List (high evidence)
Disorders of immune dysregulation v0.39 CTPS1 Zornitza Stark Gene: ctps1 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.38 CTPS1 Zornitza Stark gene: CTPS1 was added
gene: CTPS1 was added to Disorders of immune dysregulation. Sources: Expert list
Mode of inheritance for gene: CTPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTPS1 were set to 24870241
Phenotypes for gene: CTPS1 were set to Immunodeficiency 24, MIM# 615897; Recurrent/chronic bacterial and viral infections (EBV, VZV); EBV lymphoproliferation; B-cell non-Hodgkin lymphoma
Review for gene: CTPS1 was set to GREEN
Added comment: At least 5 families reported.
Sources: Expert list
Disorders of immune dysregulation v0.37 CD27 Zornitza Stark Marked gene: CD27 as ready
Disorders of immune dysregulation v0.37 CD27 Zornitza Stark Gene: cd27 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.37 CD27 Zornitza Stark Classified gene: CD27 as Green List (high evidence)
Disorders of immune dysregulation v0.37 CD27 Zornitza Stark Gene: cd27 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.36 CD27 Zornitza Stark gene: CD27 was added
gene: CD27 was added to Disorders of immune dysregulation. Sources: Expert list
Mode of inheritance for gene: CD27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD27 were set to 22801960; 22197273
Phenotypes for gene: CD27 were set to Lymphoproliferative syndrome 2, MIM# 615122
Review for gene: CD27 was set to GREEN
Added comment: At least four families reported.
Sources: Expert list
Disorders of immune dysregulation v0.35 TGFB1 Zornitza Stark Marked gene: TGFB1 as ready
Disorders of immune dysregulation v0.35 TGFB1 Zornitza Stark Gene: tgfb1 has been classified as Amber List (Moderate Evidence).
Disorders of immune dysregulation v0.35 TGFB1 Zornitza Stark Classified gene: TGFB1 as Amber List (moderate evidence)
Disorders of immune dysregulation v0.35 TGFB1 Zornitza Stark Gene: tgfb1 has been classified as Amber List (Moderate Evidence).
Disorders of immune dysregulation v0.34 TGFB1 Zornitza Stark gene: TGFB1 was added
gene: TGFB1 was added to Disorders of immune dysregulation. Sources: Expert list
Mode of inheritance for gene: TGFB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TGFB1 were set to 29483653
Phenotypes for gene: TGFB1 were set to Inflammatory bowel disease, immunodeficiency, and encephalopathy MIM# 618213
Review for gene: TGFB1 was set to AMBER
Added comment: Two families and some functional data.
Sources: Expert list
Mendeliome v0.1946 JAK1 Zornitza Stark Marked gene: JAK1 as ready
Mendeliome v0.1946 JAK1 Zornitza Stark Gene: jak1 has been classified as Red List (Low Evidence).
Mendeliome v0.1946 JAK1 Zornitza Stark gene: JAK1 was added
gene: JAK1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: JAK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: JAK1 were set to 28111307
Phenotypes for gene: JAK1 were set to Eosinophilia; Eosinophilic enteritis; Thyroid disease; Poor growth; Viral infections
Review for gene: JAK1 was set to RED
Added comment: Single family reported (mother and two children) with GoF variant.
Sources: Expert list
Disorders of immune dysregulation v0.33 JAK1 Zornitza Stark Marked gene: JAK1 as ready
Disorders of immune dysregulation v0.33 JAK1 Zornitza Stark Gene: jak1 has been classified as Red List (Low Evidence).
Disorders of immune dysregulation v0.33 JAK1 Zornitza Stark gene: JAK1 was added
gene: JAK1 was added to Disorders of immune dysregulation. Sources: Expert list
Mode of inheritance for gene: JAK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: JAK1 were set to 28111307
Phenotypes for gene: JAK1 were set to Eosinophilia; Eosinophilic enteritis; Thyroid disease; Poor growth; Viral infections
Mode of pathogenicity for gene: JAK1 was set to Other
Review for gene: JAK1 was set to RED
Added comment: Single family reported (mother and two children) with GoF variant.
Sources: Expert list
Disorders of immune dysregulation v0.32 LRBA Zornitza Stark Marked gene: LRBA as ready
Disorders of immune dysregulation v0.32 LRBA Zornitza Stark Gene: lrba has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.32 LRBA Zornitza Stark Classified gene: LRBA as Green List (high evidence)
Disorders of immune dysregulation v0.32 LRBA Zornitza Stark Gene: lrba has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.31 LRBA Zornitza Stark gene: LRBA was added
gene: LRBA was added to Disorders of immune dysregulation. Sources: Expert list
Mode of inheritance for gene: LRBA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRBA were set to 22721650; 25468195; 26206937; 22608502
Phenotypes for gene: LRBA were set to Immunodeficiency, common variable, 8, with autoimmunity, MIM# 614700; Recurrent infections; Inflammatory bowel disease; Autoimmunity; EBV infections
Review for gene: LRBA was set to GREEN
Added comment: Sources: Expert list
Mendeliome v0.1945 IL2RB Zornitza Stark Marked gene: IL2RB as ready
Mendeliome v0.1945 IL2RB Zornitza Stark Gene: il2rb has been classified as Green List (High Evidence).
Mendeliome v0.1945 IL2RB Zornitza Stark Classified gene: IL2RB as Green List (high evidence)
Mendeliome v0.1945 IL2RB Zornitza Stark Gene: il2rb has been classified as Green List (High Evidence).
Mendeliome v0.1944 IL2RB Zornitza Stark gene: IL2RB was added
gene: IL2RB was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: IL2RB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL2RB were set to 31040184; 31040185
Phenotypes for gene: IL2RB were set to Immunodeficiency 63 with lymphoproliferation and autoimmunity, MIM# 618495; Lymphoproliferation, lymphadenopathy, hepatosplenomegaly, autoimmune haemolytic anaemia, dermatitis, enteropathy, hypergammaglobulinaemia, recurrent viral (EBV, CMV) infections
Review for gene: IL2RB was set to GREEN
Added comment: Five families reported.
Sources: Expert list
Disorders of immune dysregulation v0.30 IL2RB Zornitza Stark Marked gene: IL2RB as ready
Disorders of immune dysregulation v0.30 IL2RB Zornitza Stark Gene: il2rb has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.30 IL2RB Zornitza Stark Classified gene: IL2RB as Green List (high evidence)
Disorders of immune dysregulation v0.30 IL2RB Zornitza Stark Gene: il2rb has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.29 IL2RB Zornitza Stark gene: IL2RB was added
gene: IL2RB was added to Disorders of immune dysregulation. Sources: Expert list
Mode of inheritance for gene: IL2RB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL2RB were set to 31040184; 31040185
Phenotypes for gene: IL2RB were set to Immunodeficiency 63 with lymphoproliferation and autoimmunity, MIM# 618495; Lymphoproliferation, lymphadenopathy, hepatosplenomegaly, autoimmune haemolytic anaemia, dermatitis, enteropathy, hypergammaglobulinaemia, recurrent viral (EBV, CMV) infections
Review for gene: IL2RB was set to GREEN
Added comment: Five families reported.
Sources: Expert list
Mendeliome v0.1943 AP3D1 Zornitza Stark Marked gene: AP3D1 as ready
Mendeliome v0.1943 AP3D1 Zornitza Stark Gene: ap3d1 has been classified as Red List (Low Evidence).
Mendeliome v0.1943 AP3D1 Zornitza Stark gene: AP3D1 was added
gene: AP3D1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: AP3D1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP3D1 were set to 26744459; 9697856
Phenotypes for gene: AP3D1 were set to Hermansky-Pudlak syndrome 10, MIM# 617050; Oculocutaneous albinism; Severe neutropaenia; Recurrent infections; Seizures; Hearing loss; Neurodevelopmental delay
Review for gene: AP3D1 was set to RED
Added comment: Single family and a mouse model.
Sources: Expert list
Disorders of immune dysregulation v0.28 AP3D1 Zornitza Stark Marked gene: AP3D1 as ready
Disorders of immune dysregulation v0.28 AP3D1 Zornitza Stark Gene: ap3d1 has been classified as Red List (Low Evidence).
Disorders of immune dysregulation v0.28 AP3D1 Zornitza Stark gene: AP3D1 was added
gene: AP3D1 was added to Disorders of immune dysregulation. Sources: Expert list
Mode of inheritance for gene: AP3D1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP3D1 were set to 26744459; 9697856
Phenotypes for gene: AP3D1 were set to Hermansky-Pudlak syndrome 10, MIM# 617050; Oculocutaneous albinism; Severe neutropaenia; Recurrent infections; Seizures; Hearing loss; Neurodevelopmental delay
Review for gene: AP3D1 was set to RED
Added comment: Single family and a mouse model.
Sources: Expert list
Disorders of immune dysregulation v0.27 SLC7A7 Zornitza Stark Marked gene: SLC7A7 as ready
Disorders of immune dysregulation v0.27 SLC7A7 Zornitza Stark Gene: slc7a7 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.27 SLC7A7 Zornitza Stark Classified gene: SLC7A7 as Green List (high evidence)
Disorders of immune dysregulation v0.27 SLC7A7 Zornitza Stark Gene: slc7a7 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.26 SLC7A7 Zornitza Stark gene: SLC7A7 was added
gene: SLC7A7 was added to Disorders of immune dysregulation. Sources: Expert list
Mode of inheritance for gene: SLC7A7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC7A7 were set to Lysinuric protein intolerance, MIM# 222700; Hyper-inflammatory response of macrophages; Normal NK cell function; Lysinuric protein intolerance; Bleeding tendency; Alverolar proteinosis
Review for gene: SLC7A7 was set to GREEN
Added comment: Sources: Expert list
Mendeliome v0.1942 FAAP24 Zornitza Stark Marked gene: FAAP24 as ready
Mendeliome v0.1942 FAAP24 Zornitza Stark Gene: faap24 has been classified as Red List (Low Evidence).
Mendeliome v0.1942 FAAP24 Zornitza Stark gene: FAAP24 was added
gene: FAAP24 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: FAAP24 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAAP24 were set to 27473539
Phenotypes for gene: FAAP24 were set to EBV infection-driven lymphoproliferative disease
Review for gene: FAAP24 was set to RED
Added comment: Single sib pair with homozygous missense variant, some functional data.
Sources: Expert list
Disorders of immune dysregulation v0.25 FAAP24 Zornitza Stark Marked gene: FAAP24 as ready
Disorders of immune dysregulation v0.25 FAAP24 Zornitza Stark Gene: faap24 has been classified as Red List (Low Evidence).
Disorders of immune dysregulation v0.25 FAAP24 Zornitza Stark gene: FAAP24 was added
gene: FAAP24 was added to Disorders of immune dysregulation. Sources: Expert list
Mode of inheritance for gene: FAAP24 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAAP24 were set to 27473539
Phenotypes for gene: FAAP24 were set to EBV infection-driven lymphoproliferative disease
Review for gene: FAAP24 was set to RED
Added comment: Single sib pair with homozygous missense variant, some functional data.
Sources: Expert list
Disorders of immune dysregulation v0.24 Zornitza Stark Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Rare Disease
Predominantly Antibody Deficiency v0.31 RAC2 Zornitza Stark Marked gene: RAC2 as ready
Predominantly Antibody Deficiency v0.31 RAC2 Zornitza Stark Gene: rac2 has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.31 RAC2 Zornitza Stark Classified gene: RAC2 as Green List (high evidence)
Predominantly Antibody Deficiency v0.31 RAC2 Zornitza Stark Gene: rac2 has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.30 RAC2 Zornitza Stark gene: RAC2 was added
gene: RAC2 was added to Predominantly Antibody Deficiency. Sources: Expert list
Mode of inheritance for gene: RAC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAC2 were set to 32198141; 31919089; 31382036; 31071452; 30723080; 30654050
Phenotypes for gene: RAC2 were set to SCID; recurrent bacterial and viral infections; lymphoproliferation; neutropaenia; reticular dysgenesis; deafness; selective IgA deficiency; Reduced Ab responses following vaccination
Review for gene: RAC2 was set to GREEN
Added comment: GoF variants reported in at least 5 unrelated individuals, functional data including animal model.
Sources: Expert list
Predominantly Antibody Deficiency v0.29 SEC61A1 Zornitza Stark Marked gene: SEC61A1 as ready
Predominantly Antibody Deficiency v0.29 SEC61A1 Zornitza Stark Gene: sec61a1 has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.29 SEC61A1 Zornitza Stark Classified gene: SEC61A1 as Green List (high evidence)
Predominantly Antibody Deficiency v0.29 SEC61A1 Zornitza Stark Gene: sec61a1 has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.28 SEC61A1 Zornitza Stark gene: SEC61A1 was added
gene: SEC61A1 was added to Predominantly Antibody Deficiency. Sources: Expert list
Mode of inheritance for gene: SEC61A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SEC61A1 were set to 27392076; 28782633
Phenotypes for gene: SEC61A1 were set to Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056; Hypogammaglobulinaemia; Severe recurrent respiratory tract infections
Review for gene: SEC61A1 was set to GREEN
Added comment: Gene initially linked with renal phenotype in two families, inconsistent immunological findings (PMID 27392076). Further 11 individuals from two families reported in PMID: 28782633 with immunological phenotype.
Sources: Expert list
Mendeliome v0.1941 SH3KBP1 Zornitza Stark Marked gene: SH3KBP1 as ready
Mendeliome v0.1941 SH3KBP1 Zornitza Stark Gene: sh3kbp1 has been classified as Red List (Low Evidence).
Mendeliome v0.1941 SH3KBP1 Zornitza Stark Tag SV/CNV tag was added to gene: SH3KBP1.
Mendeliome v0.1941 SH3KBP1 Zornitza Stark gene: SH3KBP1 was added
gene: SH3KBP1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: SH3KBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SH3KBP1 were set to 29636373; 21708930
Phenotypes for gene: SH3KBP1 were set to Immunodeficiency 61, MIM# 300310
Review for gene: SH3KBP1 was set to RED
Added comment: Single family reported, 247.5-kb intragenic deletion detected by array.
Sources: Expert list
Predominantly Antibody Deficiency v0.27 SH3KBP1 Zornitza Stark Marked gene: SH3KBP1 as ready
Predominantly Antibody Deficiency v0.27 SH3KBP1 Zornitza Stark Gene: sh3kbp1 has been classified as Red List (Low Evidence).
Predominantly Antibody Deficiency v0.27 SH3KBP1 Zornitza Stark Tag SV/CNV tag was added to gene: SH3KBP1.
Predominantly Antibody Deficiency v0.27 SH3KBP1 Zornitza Stark gene: SH3KBP1 was added
gene: SH3KBP1 was added to Predominantly Antibody Deficiency. Sources: Expert list
Mode of inheritance for gene: SH3KBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SH3KBP1 were set to 29636373; 21708930
Phenotypes for gene: SH3KBP1 were set to Immunodeficiency 61, MIM# 300310
Review for gene: SH3KBP1 was set to RED
Added comment: Single family reported, 247.5-kb intragenic deletion detected by array. Some functional data.
Sources: Expert list
Mendeliome v0.1940 ARHGEF1 Zornitza Stark Marked gene: ARHGEF1 as ready
Mendeliome v0.1940 ARHGEF1 Zornitza Stark Gene: arhgef1 has been classified as Red List (Low Evidence).
Mendeliome v0.1940 ARHGEF1 Zornitza Stark gene: ARHGEF1 was added
gene: ARHGEF1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: ARHGEF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARHGEF1 were set to 30521495
Phenotypes for gene: ARHGEF1 were set to Immunodeficiency 62, MIM#618459
Review for gene: ARHGEF1 was set to RED
Added comment: Single family, functional data.
Sources: Expert list
Mendeliome v0.1939 ATP6AP1 Zornitza Stark Marked gene: ATP6AP1 as ready
Mendeliome v0.1939 ATP6AP1 Zornitza Stark Gene: atp6ap1 has been classified as Green List (High Evidence).
Mendeliome v0.1939 ATP6AP1 Zornitza Stark Phenotypes for gene: ATP6AP1 were changed from to Immunodeficiency 47, MIM#300972; Hepatopathy; Leukopaenia; Low copper; Intellectual disability in some
Mendeliome v0.1938 ATP6AP1 Zornitza Stark Publications for gene: ATP6AP1 were set to
Mendeliome v0.1937 ATP6AP1 Zornitza Stark Mode of inheritance for gene: ATP6AP1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Predominantly Antibody Deficiency v0.26 ATP6AP1 Zornitza Stark Phenotypes for gene: ATP6AP1 were changed from Immunodeficiency 47, MIM# 300972 to Immunodeficiency 47, MIM# 300972; Hepatopathy; Leukopenia; Low copper
Predominantly Antibody Deficiency v0.25 ATP6AP1 Zornitza Stark edited their review of gene: ATP6AP1: Changed phenotypes: Immunodeficiency 47, MIM# 300972, Hepatopathy, Leukopenia, Low copper
Predominantly Antibody Deficiency v0.25 ATP6AP1 Zornitza Stark Marked gene: ATP6AP1 as ready
Predominantly Antibody Deficiency v0.25 ATP6AP1 Zornitza Stark Gene: atp6ap1 has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.25 ATP6AP1 Zornitza Stark Classified gene: ATP6AP1 as Green List (high evidence)
Predominantly Antibody Deficiency v0.25 ATP6AP1 Zornitza Stark Gene: atp6ap1 has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.24 ATP6AP1 Zornitza Stark gene: ATP6AP1 was added
gene: ATP6AP1 was added to Predominantly Antibody Deficiency. Sources: Expert list
Mode of inheritance for gene: ATP6AP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ATP6AP1 were set to 27231034
Phenotypes for gene: ATP6AP1 were set to Immunodeficiency 47, MIM# 300972
Review for gene: ATP6AP1 was set to GREEN
Added comment: 11 males from 6 unrelated families reported, four different variants.
Sources: Expert list
Mendeliome v0.1936 IRF2BP2 Zornitza Stark Marked gene: IRF2BP2 as ready
Mendeliome v0.1936 IRF2BP2 Zornitza Stark Gene: irf2bp2 has been classified as Red List (Low Evidence).
Mendeliome v0.1936 IRF2BP2 Zornitza Stark gene: IRF2BP2 was added
gene: IRF2BP2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: IRF2BP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IRF2BP2 were set to 27016798
Phenotypes for gene: IRF2BP2 were set to Immunodeficiency, common variable, 14, MIM# 617765
Review for gene: IRF2BP2 was set to RED
Added comment: Single family reported only.
Sources: Expert list
Predominantly Antibody Deficiency v0.23 IRF2BP2 Zornitza Stark Marked gene: IRF2BP2 as ready
Predominantly Antibody Deficiency v0.23 IRF2BP2 Zornitza Stark Gene: irf2bp2 has been classified as Red List (Low Evidence).
Predominantly Antibody Deficiency v0.23 IRF2BP2 Zornitza Stark gene: IRF2BP2 was added
gene: IRF2BP2 was added to Predominantly Antibody Deficiency. Sources: Expert list
Mode of inheritance for gene: IRF2BP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IRF2BP2 were set to 27016798
Phenotypes for gene: IRF2BP2 were set to Immunodeficiency, common variable, 14, MIM# 617765
Review for gene: IRF2BP2 was set to RED
Added comment: Single family reported only.
Sources: Expert list
Predominantly Antibody Deficiency v0.22 IKZF1 Zornitza Stark Marked gene: IKZF1 as ready
Predominantly Antibody Deficiency v0.22 IKZF1 Zornitza Stark Gene: ikzf1 has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.22 IKZF1 Zornitza Stark Classified gene: IKZF1 as Green List (high evidence)
Predominantly Antibody Deficiency v0.22 IKZF1 Zornitza Stark Gene: ikzf1 has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.21 IKZF1 Zornitza Stark gene: IKZF1 was added
gene: IKZF1 was added to Predominantly Antibody Deficiency. Sources: Expert list
Mode of inheritance for gene: IKZF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IKZF1 were set to 21548011; 26981933
Phenotypes for gene: IKZF1 were set to Immunodeficiency, common variable, 13, MIM# 616873; Low IgG, IgA, IgM, low or normal B cells; B cells and Ig levels reduce with age; Decreased pro-B cells; Recurrent sinopulmonary infections; Increased risk of ALL, autoimmunity
Review for gene: IKZF1 was set to GREEN
Added comment: At least five unrelated families reported.
Sources: Expert list
Predominantly Antibody Deficiency v0.20 Zornitza Stark Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Rare Disease
Predominantly Antibody Deficiency v0.19 PIK3CD Zornitza Stark Marked gene: PIK3CD as ready
Predominantly Antibody Deficiency v0.19 PIK3CD Zornitza Stark Gene: pik3cd has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.19 PIK3CD Zornitza Stark Phenotypes for gene: PIK3CD were changed from to Immunodeficiency 14, MIM# 615513
Predominantly Antibody Deficiency v0.18 PIK3CD Zornitza Stark Publications for gene: PIK3CD were set to
Predominantly Antibody Deficiency v0.17 PIK3CD Zornitza Stark Mode of pathogenicity for gene: PIK3CD was changed from to Other
Predominantly Antibody Deficiency v0.16 PIK3CD Zornitza Stark Mode of inheritance for gene: PIK3CD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Predominantly Antibody Deficiency v0.15 PIK3CD Zornitza Stark reviewed gene: PIK3CD: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24136356, 30018075, 24165795; Phenotypes: Immunodeficiency 14, MIM# 615513; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2510 TOP2B Zornitza Stark Marked gene: TOP2B as ready
Intellectual disability syndromic and non-syndromic v0.2510 TOP2B Zornitza Stark Gene: top2b has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2510 TOP2B Zornitza Stark Classified gene: TOP2B as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2510 TOP2B Zornitza Stark Gene: top2b has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2509 TOP2B Zornitza Stark gene: TOP2B was added
gene: TOP2B was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: TOP2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TOP2B were set to 31953910; 28343847; 12773624
Phenotypes for gene: TOP2B were set to Intellectual disability
Review for gene: TOP2B was set to AMBER
Added comment: Two unrelated individuals reported with the same de novo variant, c.187C > T, p.(His63Tyr) and also mouse model data supports role in brain development. Gene has also been associated independently with deafness and with immunodeficiency and the variant-disease relationship remains to be fully elucidated.
Sources: Expert list
Mendeliome v0.1935 TOP2B Zornitza Stark Phenotypes for gene: TOP2B were changed from Autosomal dominant deafness to Autosomal dominant deafness; Antibody deficiency, recurrent infections, facial dysmorphism, limb anomalies; Intellectual disability
Mendeliome v0.1934 TOP2B Zornitza Stark Publications for gene: TOP2B were set to 31198993
Mendeliome v0.1933 TOP2B Zornitza Stark changed review comment from: Association with deafness: One multigenerational family where variant in this gene segregated; two additional variants identified in a cohort; supportive animal model data.
Association with immunological phenotypes: Four individuals from three unrelated families reported, all the variants affected the TOPRIM domain, functional data including mouse model.
Sources: Literature; to: Association with deafness: One multigenerational family where variant in this gene segregated; two additional variants identified in a cohort; supportive animal model data.
Association with immunological phenotypes: Four individuals from three unrelated families reported, all the variants affected the TOPRIM domain, functional data including mouse model.
Intellectual disability: two unrelated individuals reported with same de novo variant, c.187C > T, p.(His63Tyr) and also supportive mouse model data.
Sources: Literature
Mendeliome v0.1933 TOP2B Zornitza Stark edited their review of gene: TOP2B: Changed publications: 28343847, 31198993, 31409799, 12773624; Changed phenotypes: Autosomal dominant deafness, Antibody deficiency, recurrent infections, facial dysmorphism, limb anomalies, Intellectual disability
Mendeliome v0.1933 TOP2B Zornitza Stark edited their review of gene: TOP2B: Changed publications: 28343847
Mendeliome v0.1933 TOP2B Zornitza Stark Classified gene: TOP2B as Green List (high evidence)
Mendeliome v0.1933 TOP2B Zornitza Stark Gene: top2b has been classified as Green List (High Evidence).
Mendeliome v0.1932 TOP2B Zornitza Stark changed review comment from: One multigenerational family where variant in this gene segregated; two additional variants identified in a cohort; supportive animal model data.
Sources: Literature; to: Association with deafness: One multigenerational family where variant in this gene segregated; two additional variants identified in a cohort; supportive animal model data.
Association with immunological phenotypes: Four individuals from three unrelated families reported, all the variants affected the TOPRIM domain, functional data including mouse model.
Sources: Literature
Mendeliome v0.1932 TOP2B Zornitza Stark edited their review of gene: TOP2B: Changed rating: GREEN; Changed publications: 31198993, 31409799, 31953910; Changed phenotypes: Autosomal dominant deafness, Antibody deficiency, recurrent infections, facial dysmorphism, limb anomalies
Predominantly Antibody Deficiency v0.15 TOP2B Zornitza Stark Marked gene: TOP2B as ready
Predominantly Antibody Deficiency v0.15 TOP2B Zornitza Stark Gene: top2b has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.15 TOP2B Zornitza Stark Classified gene: TOP2B as Green List (high evidence)
Predominantly Antibody Deficiency v0.15 TOP2B Zornitza Stark Gene: top2b has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.14 TOP2B Zornitza Stark gene: TOP2B was added
gene: TOP2B was added to Predominantly Antibody Deficiency. Sources: Expert list
Mode of inheritance for gene: TOP2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TOP2B were set to 31409799
Phenotypes for gene: TOP2B were set to Antibody deficiency; Recurrent infections; Facial dysmorphism; Limb anomalies
Review for gene: TOP2B was set to GREEN
Added comment: Four individuals from three unrelated families reported, all the variants affected the TOPRIM domain, functional data including mouse model.
Sources: Expert list
Mendeliome v0.1932 SLC39A7 Zornitza Stark Marked gene: SLC39A7 as ready
Mendeliome v0.1932 SLC39A7 Zornitza Stark Gene: slc39a7 has been classified as Green List (High Evidence).
Mendeliome v0.1932 SLC39A7 Zornitza Stark Classified gene: SLC39A7 as Green List (high evidence)
Mendeliome v0.1932 SLC39A7 Zornitza Stark Gene: slc39a7 has been classified as Green List (High Evidence).
Mendeliome v0.1931 SLC39A7 Zornitza Stark gene: SLC39A7 was added
gene: SLC39A7 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: SLC39A7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC39A7 were set to 30718914
Phenotypes for gene: SLC39A7 were set to Antibody deficiency; early onset infections; blistering dermatosis; failure to thrive; thrombocytopaenia
Review for gene: SLC39A7 was set to GREEN
Added comment: Five unrelated families with hypomorphic variants and a mouse model recapitulating phenotype.
Sources: Expert list
Predominantly Antibody Deficiency v0.13 SLC39A7 Zornitza Stark Marked gene: SLC39A7 as ready
Predominantly Antibody Deficiency v0.13 SLC39A7 Zornitza Stark Gene: slc39a7 has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.13 SLC39A7 Zornitza Stark Classified gene: SLC39A7 as Green List (high evidence)
Predominantly Antibody Deficiency v0.13 SLC39A7 Zornitza Stark Gene: slc39a7 has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.12 SLC39A7 Zornitza Stark gene: SLC39A7 was added
gene: SLC39A7 was added to Predominantly Antibody Deficiency. Sources: Expert list
Mode of inheritance for gene: SLC39A7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC39A7 were set to 30718914
Phenotypes for gene: SLC39A7 were set to Antibody deficiency; early onset infections; blistering dermatosis; failure to thrive; thrombocytopaenia
Review for gene: SLC39A7 was set to GREEN
Added comment: Five unrelated families with hypomorphic variants and a mouse model recapitulating phenotype.
Sources: Expert list
Combined Immunodeficiency v0.94 IKBKB Zornitza Stark Phenotypes for gene: IKBKB were changed from Immunodeficiency 15A, autosomal dominant, MIM# 618204; Immunodeficiency 15B, autosomal recessive, MIM# 615592 to Immunodeficiency 15A, autosomal dominant, MIM# 618204; Immunodeficiency 15B, autosomal recessive, MIM# 615592
Combined Immunodeficiency v0.94 IKBKB Zornitza Stark Marked gene: IKBKB as ready
Combined Immunodeficiency v0.94 IKBKB Zornitza Stark Gene: ikbkb has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.94 IKBKB Zornitza Stark Phenotypes for gene: IKBKB were changed from to Immunodeficiency 15A, autosomal dominant, MIM# 618204; Immunodeficiency 15B, autosomal recessive, MIM# 615592
Combined Immunodeficiency v0.93 IKBKB Zornitza Stark Publications for gene: IKBKB were set to
Combined Immunodeficiency v0.92 IKBKB Zornitza Stark Mode of pathogenicity for gene: IKBKB was changed from to Other
Combined Immunodeficiency v0.91 IKBKB Zornitza Stark Mode of inheritance for gene: IKBKB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal