Severe microcephaly
Gene: GINS3EnsemblGeneIds (GRCh38): ENSG00000181938
EnsemblGeneIds (GRCh37): ENSG00000181938
OMIM: 610610, Gene2Phenotype
GINS3 is in 3 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 3 p.m. | Last Modified: 1 Feb 2023, 3 p.m.
Panel Version: 3.5
Ivone Leong (Genomics England Curator)
Comment on list classification: New gene added by Dmitrijs Rots (RadboudUMC). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There is enough evidence to support a gene-disease association; however, other genes associated with Meier-Gorlin syndrome has been given a Red rating in this panel (Growth failure) due to the phenotype not fitting the scope of this panel. Therefore, this gene has been given a Red rating and will be moved to the Severe microcephaly panel (panel ID: 162), where it should be promoted to be Green status at the next review. GINS3 variants might act in a dominant-negative way.Created: 29 Jul 2022, 12:57 p.m. | Last Modified: 29 Jul 2022, 12:57 p.m.
Panel Version: 1.108
Dmitrijs Rots (Children's Clinical University Hospital)
7 individuals from 5 families with hypomorphic variant affecting same codon p.D24 with functional evidence reported in PMID:35603789. Enough evidence for green list.
Sources: LiteratureCreated: 25 May 2022, 2:55 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Meier-Gorlin syndrome like
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Literature
- Phenotypes
-
- Meier-Gorlin syndrome like
- Meier-Gorlin syndrome, MONDO:0016817
- Tags
- OMIM
- 610610
- Clinvar variants
- Variants in GINS3
- Penetrance
- 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
- Panels with this gene
History Filter Activity
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag gene-checked tag was added to gene: GINS3.
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q3_22_rating was removed from gene: GINS3.
Added New Source, Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Source Expert Review Green was added to GINS3. Source NHS GMS was added to GINS3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Ivone Leong (Genomics England Curator)Tag Q3_22_rating tag was added to gene: GINS3.
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: gins3 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance, Set mode of pathogenicity
Ivone Leong (Genomics England Curator)gene: GINS3 was added gene: GINS3 was added to Severe microcephaly. Sources: Literature,Expert Review Red Mode of inheritance for gene: GINS3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GINS3 were set to 35603789 Phenotypes for gene: GINS3 were set to Meier-Gorlin syndrome like; Meier-Gorlin syndrome, MONDO:0016817 Penetrance for gene: GINS3 were set to unknown Mode of pathogenicity for gene: GINS3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments