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Intellectual disability

Gene: ANKRD17

Amber List (moderate evidence)

ANKRD17 (ankyrin repeat domain 17)
EnsemblGeneIds (GRCh38): ENSG00000132466
EnsemblGeneIds (GRCh37): ENSG00000132466
OMIM: 615929, Gene2Phenotype
ANKRD17 is in 1 panel

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark. There is sufficient evidence to rate this gene Green at the next GMS panel update.

Chopra et al. 2021 (PMID: 33909992) report 34 individuals from 32 families with a heterozygous variant or microdeletion of ANKRD17. GDD/ID was the most common feature, affecting 31/33 individuals with variable severity - 7 severe, 12 moderate, 5 mild, 7 borderline. Deletions of the region containing ANKRD17 have also been associated with ID.
Created: 10 Jun 2021, 2:21 p.m. | Last Modified: 10 Jun 2021, 2:21 p.m.
Panel Version: 3.1118

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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.
Sources: Literature
Created: 10 May 2021, 10:19 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual disability, speech delay, and dysmorphism

Publications

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Intellectual disability, speech delay, and dysmorphism
Tags
Q2_21_rating
OMIM
615929
Clinvar variants
Variants in ANKRD17
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Jun 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: ankrd17 has been classified as Amber List (Moderate Evidence).

10 Jun 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: ANKRD17.

10 May 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: ANKRD17 was added gene: ANKRD17 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: ANKRD17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ANKRD17 were set to 33909992 Phenotypes for gene: ANKRD17 were set to Intellectual disability, speech delay, and dysmorphism Review for gene: ANKRD17 was set to GREEN gene: ANKRD17 was marked as current diagnostic