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  2. Congenital diaphragmatic hernia
  3. ANKRD11
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Congenital diaphragmatic hernia

Gene: ANKRD11

Red List (low 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)

Red List (low evidence)

Single individual reported.
Sources: Literature
Created: 21 Jun 2021, 8:16 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
KBG syndrome, MIM# 148050

Publications

Created: 21 Jun 2021, 8:16 a.m.

Panel version: 0.85

Details

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

History Filter Activity

21 Jun 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ankrd11 has been classified as Red List (Low Evidence).

21 Jun 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ANKRD11 was added gene: ANKRD11 was added to Congenital diaphragmatic hernia. Sources: Literature Mode of inheritance for gene: ANKRD11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ANKRD11 were set to 33461977 Phenotypes for gene: ANKRD11 were set to KBG syndrome, MIM# 148050 Review for gene: ANKRD11 was set to GREEN