Limb disorders
Gene: KIAA0825
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 5 Mar 2022, 8:17 p.m. | Last Modified: 5 Mar 2022, 8:17 p.m.
Panel Version: 2.67
Comment on list classification: Promoting this gene from grey to amber, but with recommendation for green rating following GMS review. 3 cases reported.Created: 18 Jan 2021, 4:10 p.m. | Last Modified: 18 Jan 2021, 4:10 p.m.
Panel Version: 2.26
Associated with Polydactyly, postaxial, type A10 #618498 in OMIM.
3 cases reported:
PMID: 32147526 -Hayat et al 2020 - report a consanguineous family of Pakistani origin with post axial polydactyly. Linkage analysis found a candidate region containing KIAA0825. Sanger sequencing of this gene found a homozygous missense variant [c.50T>C; p. (Leu17Ser)] in the gene, which co-segregated with the disease within the family.
PMID: 30982135 - Ullah et al 2019 - report two Pakistani multiplex consanguineous families with autosomal recessive nonsyndromic PAP. In both families, exome sequencing identified a variant in KIAA0825 that segregated with the phenotype; a frameshift variant (c.591dupA [p.(Q198Tfs*21)]) and nonsense variant (c.2173A > T [p.(K725*)]).Created: 18 Jan 2021, 4:08 p.m. | Last Modified: 18 Jan 2021, 4:08 p.m.
Panel Version: 2.24
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polydactyly, postaxial, type A10 OMIM:618498; polydactyly, postaxial, type a10 MONDO:0032785
Publications
Three families reported.
Sources: LiteratureCreated: 21 Jul 2020, 9:26 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polydactyly, postaxial, type A10, MIM# 618498
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag for-review was removed from gene: KIAA0825.
Source Expert Review Green was added to KIAA0825. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: kiaa0825 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: KIAA0825.
Phenotypes for gene: KIAA0825 were changed from Polydactyly, postaxial, type A10, MIM# 618498 to Polydactyly, postaxial, type A10 OMIM:618498; polydactyly, postaxial, type a10 MONDO:0032785
gene: KIAA0825 was added gene: KIAA0825 was added to Limb disorders. Sources: Literature Mode of inheritance for gene: KIAA0825 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIAA0825 were set to 32147526; 30982135 Phenotypes for gene: KIAA0825 were set to Polydactyly, postaxial, type A10, MIM# 618498 Review for gene: KIAA0825 was set to GREEN gene: KIAA0825 was marked as current diagnostic