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Intellectual disability

Gene: ANKS1B

Amber List (moderate evidence)
ANKS1B (ankyrin repeat and sterile alpha motif domain containing 1B)
EnsemblGeneIds (GRCh38): ENSG00000185046
EnsemblGeneIds (GRCh37): ENSG00000185046
OMIM: 607815, Gene2Phenotype
ANKS1B is in 1 panel

2 reviews

Ida Ertmanska (Genomics England Curator)

I don't know

Comment on list classification: Individuals with monogenic heterozygous microdeletions in ANSK1B had normal intellect or slightly below average, which does not meet the eligibility criteria of moderate/severe/profound global developmental delay/intellectual disability. Hence, ANKS1B should remain Amber for Intellectual disability until more evidence emerges.
Created: 12 Dec 2025, noon | Last Modified: 12 Dec 2025, noon
Panel Version: 9.194
PMID: 31388001 Carbonell et al., 2019
Report of 2 unrelated families (EIN-1 and EIN-2), with 6 affected members. The individuals presented with a complex neurodevelopmental disorder, with normal ntelligence (FSIQ = 85-105), except patient EIN-2-1 (FSIQ = 81, slightly below average).

Also reported 10 individuals from other sources (Decipher, University of Toronto, GeneMatcher), with microdeletions in ANKS1B.

9 individuals from 7 families with monogenic deletions in ANKS1B are described in Table 1. 1 family was South Asian and 6 had Caucasian ancestry. Craniofacial dysmorphism was reported in 5/7 families. 3/9 patients were diagnosed with ID, however the severity is not specified, and two of the individuals were under 5 years of age - diagnosis is difficult before age 5. 6/9 individuals had developmental delay, 5/9 had ASD, and 4/9 had ADHD. 4/9 patients had some abnormalities reported on MRI (thin corpus callosum, enlarged ventricles).

Functional evidence: PMID: 38129387 Cho et al., 2023
'Anks1b-deficient mouse models display deficits in oligodendrocyte maturation, myelination, and Rac1 function'

This gene is not yet associated with a phenotype in OMIM (accessed 12th Dec 2025).
Created: 12 Dec 2025, 11:58 a.m. | Last Modified: 12 Dec 2025, 12:09 p.m.
Panel Version: 9.194

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
complex neurodevelopmental disorder, MONDO:0100038

Publications

Created: 12 Dec 2025, 11:58 a.m.
Last Modified: 12 Dec 2025, 12:09 p.m.
Panel version: 9.194

Nour Elkhateeb (Cambridge University Hospitals NHS Foundation Trust)

Green List (high evidence)

Monoallelic ANKS1B microdeletion resulting in Haploinsufficiency have been reported to be associated with variable developmental delays, intellectual disability, behavioural difficulties, as well as other features such as Craniofacial dysmorphism, and MRI brain abnormalities in 4 families (PMID 31388001, 38129387).
Sources: Literature
Created: 20 Nov 2025, 1:34 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developmental delay; Intellectual disability; Autism; Speech and language delay

Publications

Created: 20 Nov 2025, 1:34 p.m.

Panel version: 9.186

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • complex neurodevelopmental disorder, MONDO:0100038
OMIM
607815
Clinvar variants
Variants in ANKS1B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Dec 2025, Gel status: 2

Set Phenotypes

Ida Ertmanska (Genomics England Curator)

Phenotypes for gene: ANKS1B were changed from complex neurodevelopmental disorder, MONDO:0100038 to complex neurodevelopmental disorder, MONDO:0100038

12 Dec 2025, Gel status: 2

Set Phenotypes

Ida Ertmanska (Genomics England Curator)

Phenotypes for gene: ANKS1B were changed from Developmental delay; Intellectual disability; Autism; Speech and language delay to complex neurodevelopmental disorder, MONDO:0100038

12 Dec 2025, Gel status: 2

Entity classified by Genomics England curator

Ida Ertmanska (Genomics England Curator)

Gene: anks1b has been classified as Amber List (Moderate Evidence).

20 Nov 2025, Gel status: 0

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

Nour Elkhateeb (Cambridge University Hospitals NHS Foundation Trust)

gene: ANKS1B was added gene: ANKS1B was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: ANKS1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ANKS1B were set to 31388001; 38129387 Phenotypes for gene: ANKS1B were set to Developmental delay; Intellectual disability; Autism; Speech and language delay Review for gene: ANKS1B was set to GREEN