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| White matter disorders and cerebral calcification - narrow panel v1.200 | GTF2E2 | Arina Puzriakova Classified gene: GTF2E2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.200 | GTF2E2 | Arina Puzriakova Added comment: Comment on list classification: Rating Red as only a single individual has been described to date with white matter alternations in the context of variants in this gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.200 | GTF2E2 | Arina Puzriakova Gene: gtf2e2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.199 | GTF2E2 | Arina Puzriakova reviewed gene: GTF2E2: Rating: ; Mode of pathogenicity: None; Publications: 26996949, 28973399; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.199 | GTF2E2 | Arina Puzriakova Phenotypes for gene: GTF2E2 were changed from Trichothiodystrophy 6, nonphotosensitive; 616943 to Trichothiodystrophy 6, nonphotosensitive, OMIM:616943 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v0.11 | GTF2E2 |
Ellen McDonagh gene: GTF2E2 was added gene: GTF2E2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Amber Mode of inheritance for gene: GTF2E2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GTF2E2 were set to 26996949 Phenotypes for gene: GTF2E2 were set to Trichothiodystrophy 6, nonphotosensitive; 616943 |
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