White matter disorders and cerebral calcification - narrow panel
Gene: GTF2E2Comment 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.Created: 30 Sep 2021, 1:42 p.m. | Last Modified: 30 Sep 2021, 1:42 p.m.
Panel Version: 1.200
To date 5 individuals from 4 families have been reported, including 3 different Moroccan families with the same homozygous founder variant (c.C559T) and a patient from Asian origin who had a distinct homozygous variant (c.448G>C). Phenotypes were predominant for trichothiodystrophy, microcephaly and ID/DD. Only the Asian individual was found to have white matter abnormalities defined as 'decreased attenuation throughout the white matter, possibly representing a leukoencephalopathy'Created: 30 Sep 2021, 1:41 p.m. | Last Modified: 30 Sep 2021, 1:41 p.m.
Panel Version: 1.199
Publications
Gene: gtf2e2 has been classified as Red List (Low Evidence).
Phenotypes for gene: GTF2E2 were changed from Trichothiodystrophy 6, nonphotosensitive; 616943 to Trichothiodystrophy 6, nonphotosensitive, OMIM:616943
Checked against super panel made up of the panel constituents. Ready to promote to version 1
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