Limb disorders

Gene: KIAA0825

Green List (high evidence)

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

• 32147526
• 30982135

Green List (high evidence)

Three families reported.
Sources: Literature

Created: 21 Jul 2020, 9:26 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Polydactyly, postaxial, type A10, MIM# 618498

Publications

• 32147526
• 30982135

Variants in this GENE are reported as part of current diagnostic practice