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Intellectual disability

Gene: POU3F2

Green List (high evidence)
POU3F2 (POU class 3 homeobox 2)
EnsemblGeneIds (GRCh38): ENSG00000184486
EnsemblGeneIds (GRCh37): ENSG00000184486
OMIM: 600494, Gene2Phenotype
POU3F2 is in 1 panel

3 reviews

Eleanor Williams (Genomics England Curator)

This gene is not currently associated with a disease phenotype in OMIM, but checked PMID:37207645 to make sure it is the same gene listed in the publication as on this panel and it is, so added the gene-checked tag
Created: 16 Oct 2023, 8:08 p.m. | Last Modified: 16 Oct 2023, 8:08 p.m.
Panel Version: 5.313
Created: 16 Oct 2023, 8:08 p.m.
Last Modified: 16 Oct 2023, 8:08 p.m.
Panel version: 5.313

Arina Puzriakova (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: 11 Oct 2023, 9:34 a.m. | Last Modified: 11 Oct 2023, 9:34 a.m.
Panel Version: 5.286

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

Created: 11 Oct 2023, 9:34 a.m.
Last Modified: 11 Oct 2023, 9:34 a.m.
Panel version: 5.286

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 30 May 2023, 5:53 p.m. | Last Modified: 30 May 2023, 5:53 p.m.
Panel Version: 5.161
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 30 May 2023, 5:53 p.m. | Last Modified: 30 May 2023, 5:53 p.m.
Panel Version: 5.161
Not associated with a phenotype in OMIM, Gen2Phen or MONDO. PMID: 37207645 reports eight POU3F2 variants in the unrelated cases of neurodevelopmental delay with hyperphagic obesity, with no other variants detected in other candidate genes. Intellectual disability was apparent in 6/7 of these cases from infancy to early childhood. The remaining variant : NM_005604.4 c.135C>A, p.Tyr45* was found in a mother and son, where the son was classified as having intellectual disability, the mother did not. Excluding the mother and son, all of the remaining cases carrying POU3F2 variants had neurodevelopmental delay.
Sources: Literature
Created: 30 May 2023, 5:48 p.m.

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

Phenotypes
neurodevelopmental delay with hyperphagic obesity

Publications

Created: 30 May 2023, 5:48 p.m.

Panel version: 5.160

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • neurodevelopmental delay with hyperphagic obesity
Tags
gene-checked
OMIM
600494
Clinvar variants
Variants in POU3F2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Oct 2023, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag gene-checked tag was added to gene: POU3F2.

11 Oct 2023, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_23_promote_green was removed from gene: POU3F2.

11 Oct 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source NHS GMS was added to POU3F2. Source Expert Review Green was added to POU3F2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

30 May 2023, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: pou3f2 has been classified as Amber List (Moderate Evidence).

30 May 2023, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: pou3f2 has been classified as Amber List (Moderate Evidence).

30 May 2023, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: POU3F2 was added gene: POU3F2 was added to Intellectual disability - microarray and sequencing. Sources: Literature Q2_23_promote_green tags were added to gene: POU3F2. Mode of inheritance for gene: POU3F2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: POU3F2 were set to 37207645 Phenotypes for gene: POU3F2 were set to neurodevelopmental delay with hyperphagic obesity Review for gene: POU3F2 was set to GREEN