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Intellectual disability

Gene: ANO4

Green List (high evidence)
ANO4 (anoctamin 4)
EnsemblGeneIds (GRCh38): ENSG00000151572
EnsemblGeneIds (GRCh37): ENSG00000151572
OMIM: 610111, Gene2Phenotype
ANO4 is in 2 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.
Created: 26 Sep 2024, 2:57 p.m. | Last Modified: 26 Sep 2024, 2:57 p.m.
Panel Version: 7.41

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

Created: 26 Sep 2024, 2:57 p.m.
Last Modified: 26 Sep 2024, 2:57 p.m.
Panel version: 7.41

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

To date, no phenotype has been associated with ANO4 variants in OMIM, Gen2Phen or Mondo.
Created: 3 Jun 2024, 4:21 p.m. | Last Modified: 3 Jun 2024, 4:21 p.m.
Panel Version: 6.16
PMID: 38744284 reports five de novo ANO4 missense variants in patients (I1–I5) with a phenotype that includes intellectual disability, developmental and epileptic or epileptic encephalopathy (DEE/EE) and hypotonia. A further two ANO4 missenses variants were observed, one had been inherited from unaffected mother (patient F7) and with a penetrance of 73% in members of a large pedigree with a milder phenotype (PMID: 38744284: Supplementary figure S2). Febrile seizures plus (GEFS+) or temporal lobe epilepsy were associated with these inherited variants. A dominant negative mechanism was proposed by Yang et al (PMID: 38744284) as a result of functional studies of one of the variants causing DEE/EE and one causing GEFS+.
Sources: Literature
Created: 3 Jun 2024, 3:48 p.m.

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

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Created: 3 Jun 2024, 3:48 p.m.

Panel version: 6.16

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • sporadic encephalopathic and familial epilepsy
Tags
gene-checked
OMIM
610111
Clinvar variants
Variants in ANO4
Penetrance
None
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

2 Oct 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked tag was added to gene: ANO4.

26 Sep 2024, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q2_24_promote_green was removed from gene: ANO4. Tag Q2_24_MOI was removed from gene: ANO4.

26 Sep 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to ANO4. Source Expert Review Green was added to ANO4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

3 Jun 2024, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: ANO4 were changed from to sporadic encephalopathic and familial epilepsy

3 Jun 2024, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: ano4 has been classified as Amber List (Moderate Evidence).

3 Jun 2024, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: ANO4 was added gene: ANO4 was added to Intellectual disability. Sources: Literature Q2_24_promote_green, Q2_24_MOI tags were added to gene: ANO4. Mode of inheritance for gene: ANO4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ANO4 were set to 38744284 Mode of pathogenicity for gene: ANO4 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: ANO4 was set to GREEN