Cataract
Gene: KAT2B

KAT2B (lysine acetyltransferase 2B)
EnsemblGeneIds (GRCh38): ENSG00000114166
EnsemblGeneIds (GRCh37): ENSG00000114166
OMIM: 602303, Gene2Phenotype
KAT2B is in 3 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Red List (low evidence)

1 family with 2 affected siblings homozygous for an NMD-predicted variant

both have steroid-resistant nephrotic syndrome and bilateral cataract
only 1 has FSGS
Sources: Literature
Created: 7 Nov 2024, 1:24 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
cataract MONDO:0005129, KAT2B-related

Publications

39366742

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

Created: 7 Nov 2024, 1:24 a.m.

Panel version: 0.373

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Literature

Phenotypes

cataract MONDO:0005129, KAT2B-related

OMIM

602303

Clinvar variants

Variants in KAT2B

Penetrance

None

Publications

39366742

Panels with this gene

History Filter Activity

7 Nov 2024, Gel status: 1

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: kat2b has been classified as Red List (Low Evidence).

7 Nov 2024, Gel status: 1

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