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  3. GINS3
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Growth failure

Gene: GINS3

Green List (high evidence)
GINS3 (GINS complex subunit 3)
EnsemblGeneIds (GRCh38): ENSG00000181938
EnsemblGeneIds (GRCh37): ENSG00000181938
OMIM: 610610, Gene2Phenotype
GINS3 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

7 individuals from 5 families reported, presenting with prenatal and postnatal growth deficiency as well as other features. Three unique missense variants identified, two affecting p.Asp24. These variants are thought to be hypomorphic. Supportive mouse model.
Sources: Literature
Created: 20 Jul 2022, midnight

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Meier-Gorlin syndrome, MONDO:0016817, GINS3-related

Publications

Created: 20 Jul 2022, midnight

Panel version: 1.43

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Meier-Gorlin syndrome, MONDO:0016817, GINS3-related
OMIM
610610
Clinvar variants
Variants in GINS3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Jul 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gins3 has been classified as Green List (High Evidence).

20 Jul 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gins3 has been classified as Green List (High Evidence).

20 Jul 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GINS3 was added gene: GINS3 was added to Growth failure. Sources: Literature 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, MONDO:0016817, GINS3-related Review for gene: GINS3 was set to GREEN