1. Panels
  2. Retinal disorders
  3. GPATCH11
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Retinal disorders

Gene: GPATCH11

Amber List (moderate evidence)
GPATCH11 (G-patch domain containing 11)
EnsemblGeneIds (GRCh38): ENSG00000152133
EnsemblGeneIds (GRCh37): ENSG00000152133
GPATCH11 is in 2 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

I don't know

Comment on publications: PMID:39572588 paper was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.
Created: 4 Feb 2025, 10:29 a.m. | Last Modified: 4 Feb 2025, 10:29 a.m.
Panel Version: 7.4
PMID:39572588 reported 12 individuals from six unrelated families presenting with a syndromic disease and they were identified with biallelic variants in GPATCH11 gene. Retinal dystrophy and mild foveolar hypoplasia were reported in one family, whereas macular atrophy was reported in a different family. Signs of retinitis pigmentosa was reported in another family.

This gene has not yet been associated with any relevant phenotypes either in OMIM or in Gene2Phenotype.
Sources: Literature
Created: 3 Feb 2025, 10:54 p.m. | Last Modified: 4 Feb 2025, 10:29 a.m.
Panel Version: 7.2

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
neurodevelopmental disorder, MONDO:0700092; retinal disorder, MONDO:0005283

Publications

Created: 3 Feb 2025, 10:54 p.m.
Last Modified: 4 Feb 2025, 10:29 a.m.
Panel version: 7.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
  • retinal disorder, MONDO:0005283
Clinvar variants
Variants in GPATCH11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Feb 2025, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: gpatch11 has been classified as Amber List (Moderate Evidence).

4 Feb 2025, Gel status: 1

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: GPATCH11 were set to 39572588

4 Feb 2025, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: GPATCH11 were changed from neuronevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; retinal disorder, MONDO:0005283

3 Feb 2025, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: GPATCH11 was added gene: GPATCH11 was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: GPATCH11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GPATCH11 were set to 39572588 Phenotypes for gene: GPATCH11 were set to neuronevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 Review for gene: GPATCH11 was set to GREEN