Arthrogryposis

Gene: KIAA1109

Green List (high evidence)

Added new-gene-name tag, new approved HGNC gene symbol for KIAA1109 is BLTP1.

Created: 30 Jun 2022, 3:32 p.m. | Last Modified: 30 Jun 2022, 4:09 p.m.

Panel Version: 3.159

Comment on list classification: 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: 5 Feb 2018, 5:05 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Alkuraya-Kucinskas syndrome 617822

Publications

• 25558065
• 29290337