Severe microcephaly

Gene: FRA10AC1

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.

Created: 24 Feb 2025, 5:58 p.m. | Last Modified: 24 Feb 2025, 5:58 p.m.

Panel Version: 7.12

Comment on list classification: There is sufficient evidence available (three unrelated families) for the promotion of this gene to green rating in the next GMS update.

Created: 19 Jul 2024, 2 p.m. | Last Modified: 19 Jul 2024, 2 p.m.

Panel Version: 5.17

PMID:34694367 reported the identification of homozygous FRA10AC1 variants in five individuals from three unrelated consanguineous Arabic families with a neurodevelopmental disorder. The two unrelated patients from two different families with loss-of-function variants (g.4656_7575del and c.561_562insTTTA/ p.Ser188Phefs*6) presented with developmental delay, profound intellectual disability (ID), and no speech, while three siblings from the third family with the c.494_496delAAG (p.Glu165del) variant had borderline to mild ID. All five individuals had microcephaly and the Z-score of OFC was <-3 for four individuals from three families.

This gene has been associated with relevant phenotypes in OMIM (MIM #620113) and Gene2Phenotype ('strong' rating on the DD panel).
Sources: Literature

Created: 19 Jul 2024, 1:59 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, OMIM:620113

Publications

• 34694367