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Arthrogryposis

Gene: KIAA1109

Green List (high evidence)

KIAA1109 (KIAA1109)
EnsemblGeneIds (GRCh38): ENSG00000138688
EnsemblGeneIds (GRCh37): ENSG00000138688
OMIM: 611565, Gene2Phenotype
KIAA1109 is in 8 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Alkuraya-Kucinskas syndrome 617822
OMIM
611565
Clinvar variants
Variants in KIAA1109
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Feb 2018, Gel status: 3

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

5 Feb 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

KIAA1109 was added to Arthrogryposis panel. Sources: Literature

5 Feb 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

KIAA1109 was created by Sarah Leigh