Clefting disorders
Gene: KAT5EnsemblGeneIds (GRCh38): ENSG00000172977
EnsemblGeneIds (GRCh37): ENSG00000172977
OMIM: 601409, Gene2Phenotype
KAT5 is in 6 panels
1 review
Chirag Patel (Genetic Health Queensland)
In 3 unrelated patients with neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities, they found 3 different de novo heterozygous missense mutations in the KAT5 gene: R53H, C369S, and S413A. Cleft LP and submucous cleft P were observed in 2/3. The mutations were found by exome sequencing and the patients were ascertained through the GeneMatcher program. None of the mutations were present in the gnomAD database. In vitro functional expression studies showed that the mutations resulted in variably decreased histone acetyltransferase (HAT) activity compared to controls.
Sources: Expert listCreated: 1 Feb 2021, 1 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodevelopmental disorder wtih dysmorphic facies, sleep disturbance, and brain abnormalities, OMIM #619103
Publications
- PMID: 32822602
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- Neurodevelopmental disorder wtih dysmorphic facies, sleep disturbance, and brain abnormalities, OMIM #619103
- OMIM
- 601409
- Clinvar variants
- Variants in KAT5
- Penetrance
- None
- Publications
-
- PMID: 32822602
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kat5 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: kat5 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: KAT5 was added gene: KAT5 was added to Clefting_GEL. Sources: Expert list Mode of inheritance for gene: KAT5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KAT5 were set to PMID: 32822602 Phenotypes for gene: KAT5 were set to Neurodevelopmental disorder wtih dysmorphic facies, sleep disturbance, and brain abnormalities, OMIM #619103 Review for gene: KAT5 was set to AMBER