Clefting

Gene: KAT6B

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.

Created: 2 May 2024, 11:59 a.m. | Last Modified: 2 May 2024, 11:59 a.m.

Panel Version: 5.3

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

I don't know

Comment on list classification: 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 should be promoted to green rating in the next GMS review.

Created: 19 Jun 2023, 3:53 p.m. | Last Modified: 19 Jun 2023, 3:53 p.m.

Panel Version: 4.30

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, 3:46 p.m. | Last Modified: 19 Jun 2023, 3:46 p.m.

Panel Version: 4.25

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Genitopatellar syndrome, OMIM:606170; SBBYSS syndrome, OMIM:603736

Publications

• 32424177
• 37010288

Red List (low evidence)

Clefting is not a common manifestation of Genitopatellar syndrome. PMID 20182757 (Bergmann et al, 2011) report a patient with cleft palate in addition to the known Genitopatellar anomalies - they state this is the first time clefting has been seen in Genitopatellar syndrome. PMID 27031267 (Lei et al., 2017) report a girl with developmental delay and congenital cleft palate- the girl had a 1.77Mb deletion spanning 9 genes including KAT6B.

Created: 31 May 2017, 11 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Genitopatellar syndrome, 606170; GTPTS

Publications

• 20182757
• 27031267