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Mendeliome

Gene: ANKS1B

Green List (high evidence)

ANKS1B (ankyrin repeat and sterile alpha motif domain containing 1B)
EnsemblGeneIds (GRCh38): ENSG00000185046
EnsemblGeneIds (GRCh37): ENSG00000185046
OMIM: 607815, Gene2Phenotype
ANKS1B is in 2 panels

2 reviews

Lilian Downie (Victorian Clinical Genetics Services)

Comment when marking as ready: Intragenic deletions >3indepedant families with developmental delay (speech and motor apraxia and dysmorphism) borderline IQ's, behavioural/ASD, reduced penetrance, most inherited from mildly or not affected parents. Mouse model.
Created: 11 Jun 2025, 5:45 a.m. | Last Modified: 11 Jun 2025, 5:45 a.m.
Panel Version: 1.2653

Monica Petica (Other)

Green List (high evidence)

Complex neurodevelopmental features (especially developmental delay, speech delay and motor delay) appear to be associated with haploinsufficiency of this gene.

Carbonell (PMID: 31388001) - reports deletions in seven families, two paternally inherited (fathers listed as affected). Five of these families carry frameshift deletions predicted to undergo NMD. While there are two shorter transcripts for the gene (AIDA-1C and AIDA 1D), the short isoforms showed reduced transcription similarly to the long isoform (AIDA-1B, MANE NM_001352186.2) - as tested in probands compared to their mothers who were unaffected and not carriers of the deletions.

Hoon Cho (PMID: 38129387) - presents five additional ANKS1B deletion patients. They list the variants as multigenic although they appear to only affect ANKS1B. The patients are listed to have neurodevelopmental syndrome and white matter/corpus callosum abnormalities on MRI. One of the five carries a frameshift deletion (35 year old male). Note: the nine patients listed at the top of Figure 1 are from Carbonell. Paper includes supportive mouse studies.
Sources: Literature

gnomAD and dgv gold frequency is insufficient.
Created: 10 Jun 2025, 1:36 a.m. | Last Modified: 12 Jun 2025, 11:33 p.m.
Panel Version: 1.2655

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental syndrome; developmental delay; speech delay; motor delay; autism; intellectual disability

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder (MONDO:0700092), ANKS1B-related
Tags
SV/CNV
OMIM
607815
Clinvar variants
Variants in ANKS1B
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

12 Jun 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ANKS1B were changed from Neurodevelopmental syndrome; developmental delay; speech delay; motor delay; autism; intellectual disability to Neurodevelopmental disorder (MONDO:0700092), ANKS1B-related

12 Jun 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: anks1b has been classified as Green List (High Evidence).

11 Jun 2025, Gel status: 0

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: anks1b has been removed from the panel.

11 Jun 2025, Gel status: 0

Added Tag

Lilian Downie (Victorian Clinical Genetics Services)

Tag SV/CNV tag was added to gene: ANKS1B.

10 Jun 2025, Gel status: 0

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

Monica Petica (Other)

gene: ANKS1B was added gene: ANKS1B was added to Mendeliome. Sources: Literature Mode of inheritance for gene: ANKS1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ANKS1B were set to PMID: 31388001; 38129387 Phenotypes for gene: ANKS1B were set to Neurodevelopmental syndrome; developmental delay; speech delay; motor delay; autism; intellectual disability Penetrance for gene: ANKS1B were set to unknown Review for gene: ANKS1B was set to GREEN