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Mendeliome

Gene: KIAA1549

Green List (high evidence)

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

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Classified as STRONG by ClinGen Retina GCEP on 18/02/2025 - https://search.clinicalgenome.org/CCID:008708

Reported in 5 probands with RP - Green according to PanelApp
Sources: ClinGen
Created: 10 Mar 2025, 12:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
retinitis pigmentosa 86 MONDO:0032834

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • retinitis pigmentosa 86 MONDO:0032834
OMIM
613344
Clinvar variants
Variants in KIAA1549
Penetrance
None
Publications
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

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

10 Mar 2025, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

gene: KIAA1549 was added gene: KIAA1549 was added to Mendeliome. Sources: ClinGen Mode of inheritance for gene: KIAA1549 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIAA1549 were set to 30120214; 34027671 Phenotypes for gene: KIAA1549 were set to retinitis pigmentosa 86 MONDO:0032834 Review for gene: KIAA1549 was set to GREEN