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  3. ANKRD11
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Congenital Heart Defect

Gene: ANKRD11

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Congenital heart disease in ~25% of affected individuals.
Created: 16 Jul 2022, 9 a.m. | Last Modified: 16 Jul 2022, 9 a.m.
Panel Version: 0.236

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
KBG syndrome 148050

Publications

Created: 16 Jul 2022, 9 a.m.
Last Modified: 16 Jul 2022, 9 a.m.
Panel version: 0.236

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • KBG syndrome, MIM# 148050
OMIM
611192
Clinvar variants
Variants in ANKRD11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Jul 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ankrd11 has been classified as Green List (High Evidence).

16 Jul 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ANKRD11 were changed from to KBG syndrome, MIM# 148050

16 Jul 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ANKRD11 were set to

16 Jul 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ANKRD11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ANKRD11 was added gene: ANKRD11 was added to Congenital Heart Defect_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ANKRD11 was set to Unknown