As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Created: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34
Associated with phenotype in OMIM and as a probable G2P. In PMID 29290337 at least 12 variants have been identified in 13 cases from 10 unrelated families. The majority of cases were incompatible with life and only three individuals survived (compound heterozygotes for less pathogenic variants), these all had global developmental delay, with varying degrees of intellectual disability. Animal models were supportive for the effect of KIAA1109 variants on impaired brain development (PMID 29290337).
Created: 6 Feb 2018, 9:11 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Alkuraya-Kucinskas syndrome 617822
Source NHS GMS was added to KIAA1109.
This gene has been classified as Green List (High Evidence).
KIAA1109 was added to Hydrocephalus panel. Sources: Literature
KIAA1109 was created by Sarah Leigh