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Limb disorders

Gene: KIAA0825

Amber List (moderate evidence)

KIAA0825 (KIAA0825)
EnsemblGeneIds (GRCh38): ENSG00000185261
EnsemblGeneIds (GRCh37): ENSG00000185261
OMIM: 617266, Gene2Phenotype
KIAA0825 is in 1 panel

2 reviews

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

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

Zornitza Stark (Australian Genomics)

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

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Polydactyly, postaxial, type A10 OMIM:618498
  • polydactyly, postaxial, type a10 MONDO:0032785
Tags
for-review
OMIM
617266
Clinvar variants
Variants in KIAA0825
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: kiaa0825 has been classified as Amber List (Moderate Evidence).

18 Jan 2021, Gel status: 0

Added Tag

Eleanor Williams (Genomics England Curator)

Tag for-review tag was added to gene: KIAA0825.

18 Jan 2021, Gel status: 0

Set Phenotypes

Eleanor Williams (Genomics England Curator)

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

21 Jul 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

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