Periventricular Grey Matter Heterotopia
Gene: KAT6BEnsemblGeneIds (GRCh38): ENSG00000156650
EnsemblGeneIds (GRCh37): ENSG00000156650
OMIM: 605880, Gene2Phenotype
KAT6B is in 15 panels
1 review
Konstantinos Varvagiannis (Other)
Zhang et al (2020 - PMID: 32424177) provide a review of the KAT6B-related phenotypes based on unpublished as well as previously reported patients. Grey matter heterotopia was observed in three individuals.
According to GeneReviews (PMID : 23236640) : Most GPS-associated pathogenic variants cluster in KAT6B exon 18, the last exon, and are predicted to produce truncated proteins associated with a gain-of-function mechanism. SBBYS-causing pathogenic variants also occur most frequently in exon 18, but more distally than the GPS-associated variants. Predicted loss-of-function variants in exons 3, 7, 11, and 14-17 were reported to be associated with the SBBYSS phenotype.
Please consider inclusion in the current panel with amber or green rating.
Sources: LiteratureCreated: 16 Feb 2021, 6:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
SBBYSS syndrome MIM #603736; Genitopatellar syndrome MIM #606170
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Phenotypes
-
- SBBYSS syndrome MIM #603736
- Genitopatellar syndrome MIM #606170
- OMIM
- 605880
- Clinvar variants
- Variants in KAT6B
- Penetrance
- Complete
- 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 Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kat6b has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Konstantinos Varvagiannis (Other)gene: KAT6B was added gene: KAT6B was added to Periventricular Grey Matter Heterotopia. Sources: Literature Mode of inheritance for gene: KAT6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KAT6B were set to 32424177; 23236640 Phenotypes for gene: KAT6B were set to SBBYSS syndrome MIM #603736; Genitopatellar syndrome MIM #606170 Penetrance for gene: KAT6B were set to Complete Review for gene: KAT6B was set to AMBER