Clefting disorders
Gene: KAT6BEnsemblGeneIds (GRCh38): ENSG00000156650
EnsemblGeneIds (GRCh37): ENSG00000156650
OMIM: 605880, Gene2Phenotype
KAT6B is in 15 panels
1 review
Achchuthan Shanmugasundram (Genomics England)
Although clefting is a minor feature in patients reported with monoallelic KAT6B variants, it has been reported in more than 20 cases so far. Hence, this gene can be promoted to green rating.
Cleft palate was present in 5 out of 32 individuals in the new cohort reported with monoallelic KAT6B variants in PMID:32424177. In addition, one case each was reported with mucosal cleft palate and submucosal cleft palate. 17 out of 89 patients reviewed in this publication from previous literature also had cleft palate.
Of 32 patients reported in DECIPHER database with heterozygous sequence variants in KAT6B, two patients had cleft palate and one had submucosal cleft soft palate (PMID:37010288)Created: 19 Jun 2023, 3:55 p.m. | Last Modified: 19 Jun 2023, 3:55 p.m.
Panel Version: 0.196
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Genitopatellar syndrome, OMIM:606170; SBBYSS syndrome, OMIM:603736
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Genitopatellar syndrome, OMIM:606170
- SBBYSS syndrome, OMIM:603736
- OMIM
- 605880
- Clinvar variants
- Variants in KAT6B
- Penetrance
- None
- Publications
- Panels with this gene
-
- Clefting disorders
- Blepharophimosis
- Periventricular Grey Matter Heterotopia
- BabyScreen+ newborn screening
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Craniosynostosis
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Congenital Heart Defect
- Arthrogryposis
- Mendeliome
- Callosome
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kat6b has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: KAT6B were changed from Genitopatellar syndrome, 606170; GTPTS to Genitopatellar syndrome, OMIM:606170; SBBYSS syndrome, OMIM:603736
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: KAT6B were set to 20182757; 27031267
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: KAT6B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kat6b has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: KAT6B was added gene: KAT6B was added to Clefting_GEL. Sources: Expert Review Red Mode of inheritance for gene: KAT6B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KAT6B were set to 20182757; 27031267 Phenotypes for gene: KAT6B were set to Genitopatellar syndrome, 606170; GTPTS