Prepair 1000+

Gene: TMEM94

Green List (high evidence)

OMIM: "IDDCDF is an autosomal recessive syndromic neurodevelopmental disorder characterized by globally impaired development with intellectual disability and speech delay, congenital cardiac malformations, and dysmorphic facial features. Additional features, such as distal skeletal anomalies, may also be observed (Stephen et al., 2018)."

Currently Amber, Mackenzie's mission review says "Borderline; most evidence seems to come from a single publication, other reports in HGMD are large series with limited clinical information. I think we should leave off MM list for now, pending more evidence."

Gene is green on mendeliome "10 individuals from 6 unrelated families PMID:30526868"

There is also at least 1 new publication that has more patients:
PMID: 32825426- 2 probands with fetal anomalies, both carry homozygous TMEM94 variants, 1 canonical splice and 1 frameshift

Given the gene is green on the mendeliome and there is now at least 2 more families reported i think it should be green on this panel

Created: 1 Nov 2024, 5:24 a.m. | Last Modified: 1 Nov 2024, 5:24 a.m.

Panel Version: 1.545

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual developmental disorder with cardiac defects and dysmorphic facies MIM#618316

Publications

• 30526868
• 32825426