Clefting disorders

Gene: ANKRD17

I don't know

Borderline amber-green

Single study - 33909992 - 34 individuals from 33 families.

2/34 had cleft palate and Pierre Robin sequence
1/34 had right-sided cleft lip and palate

In addition
1/34 forme fruste of cleft lip
1/34 retrognathia

Created: 3 Feb 2022, 4:12 a.m. | Last Modified: 3 Feb 2022, 4:12 a.m.

Panel Version: 0.170

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Chopra-Amiel-Gordon syndrome - MIM#619504

Publications

• 33909992

I don't know

34 predominantly LoF variants reported - 29 de novo, 1 inherited from an affected parent, 1 inherited from a suspected mosaic parent. Main phenotypes were dev delay/ID, motor delay, and speech delay. 1 of the 34 individuals had cleft palate in the context of Pierre Robin sequence (PRS), 1 additional individual had cleft lip and palate.

Created: 3 May 2021, 5:40 a.m. | Last Modified: 3 May 2021, 5:40 a.m.

Panel Version: 0.112

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

Phenotypes
Intellectual disability, speech delay, and dysmorphism

Publications

• 33909992

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

I don't know

Emerging evidence.
Sources: Expert Review

Created: 6 Feb 2021, 4:14 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Chopra-Amiel-Gordan syndrome, MIM# 619504; Intellectual disability; dysmorphic features