Retinitis pigmentosa_Autosomal Recessive/X-linked

Gene: KIAA1549

Green List (high evidence)

KIAA1549 (KIAA1549)
EnsemblGeneIds (GRCh38): ENSG00000122778
EnsemblGeneIds (GRCh37): ENSG00000122778
OMIM: 613344, Gene2Phenotype
KIAA1549 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Classified as STRONG by ClinGen Retina GCEP on 18/02/2025 - https://search.clinicalgenome.org/CCID:008708
Created: 11 Mar 2025, 3:47 a.m. | Last Modified: 11 Mar 2025, 3:47 a.m.
Panel Version: 0.156

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
retinitis pigmentosa 86 MONDO:0032834

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • retinitis pigmentosa 86 MONDO:0032834
OMIM
613344
Clinvar variants
Variants in KIAA1549
Penetrance
None
Panels with this gene

History Filter Activity

11 Mar 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kiaa1549 has been classified as Green List (High Evidence).

11 Mar 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KIAA1549 were changed from Retinitis pigmentosa 86 to retinitis pigmentosa 86 MONDO:0032834

23 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: KIAA1549 was added gene: KIAA1549 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: KIAA1549 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KIAA1549 were set to Retinitis pigmentosa 86