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Intellectual disability syndromic and non-syndromic

Gene: ANKRD31

Red List (low evidence)

ANKRD31 (ankyrin repeat domain 31)
EnsemblGeneIds (GRCh38): ENSG00000145700
EnsemblGeneIds (GRCh37): ENSG00000145700
ANKRD31 is in 3 panels

1 review

Megan Ball (Murdoch Children's Research Institute)

Red List (low evidence)

1 individual with Rett-like phenotype. De novo missense. C.196A>T, p.Ile66Phe. Onset of features at 3 years, delayed ambulation, epilepsy, developmental regression, stereotypies, non-verbal. 17 years old at time of publication. A C.elegans model of ANKRD31 with a deletion showed significantly defective locomotion and asymmetric dynamics of axonal and dendritic microtubule defects.
Sources: Literature
Created: 29 Oct 2024, 11:33 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, ANKRD31-related
Clinvar variants
Variants in ANKRD31
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ankrd31 has been classified as Red List (Low Evidence).

29 Oct 2024, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ANKRD31 were changed from to Neurodevelopmental disorder, MONDO:0700092, ANKRD31-related

29 Oct 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ankrd31 has been classified as Red List (Low Evidence).

29 Oct 2024, Gel status: 0

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

Megan Ball (Murdoch Children's Research Institute)

gene: ANKRD31 was added gene: ANKRD31 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: ANKRD31 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ANKRD31 were set to 27541642 Review for gene: ANKRD31 was set to RED