Hand and foot malformations
Gene: ANKRD11

ANKRD11 (ankyrin repeat domain 11)
EnsemblGeneIds (GRCh38): ENSG00000167522
EnsemblGeneIds (GRCh37): ENSG00000167522
OMIM: 611192, Gene2Phenotype
ANKRD11 is in 11 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 31191201: reported 9 unrelated patients with KBG Syndrome. All PTC variants and de novo (except one which was maternally inherited)

PMID: 31337854: 2 unrelated patients with suspected Cornelia De Lange Syndrome. Both with PTC variants in ANKRD11 and de novo
Created: 28 Jan 2020, 1:10 a.m. | Last Modified: 28 Jan 2020, 1:10 a.m.

Panel Version: 0.996

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
KBG syndrome (MIM # 148050)

Publications

PMID: 31191201
31337854

Created: 28 Jan 2020, 1:10 a.m.
Last Modified: 28 Jan 2020, 1:10 a.m.
Panel version: Imported from Mendeliome panel version 0.996

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert list
Expert Review Green

Phenotypes

KBG syndrome 148050

OMIM

611192

Clinvar variants

Variants in ANKRD11

Penetrance

None

Panels with this gene

History Filter Activity

22 Sep 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: ANKRD11 was added gene: ANKRD11 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list Mode of inheritance for gene: ANKRD11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ANKRD11 were set to KBG syndrome 148050

Hand and foot malformations Gene: ANKRD11