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| Intellectual disability syndromic and non-syndromic v0.2203 | SLC25A19 | Zornitza Stark Classified gene: SLC25A19 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.2203 | SLC25A19 | Zornitza Stark Gene: slc25a19 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.2202 | SLC25A19 | Zornitza Stark changed review comment from: Bi-alllelic variants in this gene have been associated with a spectrum of phenotypes, ranging from a severe neonatal disorder in the Amish, with ID as part of the phenotype through to a neuropathy.; to: Bi-alllelic variants in this gene have been associated with a spectrum of phenotypes, ranging from a severe neonatal disorder in the Amish, with ID as part of the phenotype (founder effect) through to a neuropathy/disorder of episodic encephalopathy. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.2202 | SLC25A19 | Zornitza Stark edited their review of gene: SLC25A19: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.1233 | SLC25A19 | Zornitza Stark Marked gene: SLC25A19 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.1233 | SLC25A19 | Zornitza Stark Gene: slc25a19 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.1233 | SLC25A19 | Zornitza Stark Phenotypes for gene: SLC25A19 were changed from to Microcephaly, Amish type, MIM#607196; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), MIM#613710 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.1232 | SLC25A19 | Zornitza Stark Publications for gene: SLC25A19 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.1231 | SLC25A19 | Zornitza Stark Mode of inheritance for gene: SLC25A19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.1230 | SLC25A19 | Zornitza Stark Classified gene: SLC25A19 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.1230 | SLC25A19 | Zornitza Stark Gene: slc25a19 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.1229 | SLC25A19 | Zornitza Stark reviewed gene: SLC25A19: Rating: AMBER; Mode of pathogenicity: None; Publications: 31506564, 31295743, 12185364, 19798730; Phenotypes: Microcephaly, Amish type, MIM#607196, Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), MIM#613710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | SLC25A19 |
Zornitza Stark gene: SLC25A19 was added gene: SLC25A19 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC25A19 was set to Unknown |
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