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Mendeliome

Gene: GMNN

Green List (high evidence)

GMNN (geminin, DNA replication inhibitor)
EnsemblGeneIds (GRCh38): ENSG00000112312
EnsemblGeneIds (GRCh37): ENSG00000112312
OMIM: 602842, Gene2Phenotype
GMNN is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three unrelated individuals reported, all variants in exon 2 (first coding exon), leading to the expression of a stable truncated protein.
Created: 6 Feb 2020, 1:27 a.m. | Last Modified: 6 Nov 2024, 9:14 p.m.
Panel Version: 1.2080

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Meier-Gorlin syndrome 6, MIM# 616835

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Meier-Gorlin syndrome 6, MIM# 616835
OMIM
602842
Clinvar variants
Variants in GMNN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Feb 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

6 Feb 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GMNN were changed from to Meier-Gorlin syndrome 6, MIM# 616835

6 Feb 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GMNN were set to

6 Feb 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GMNN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GMNN was added gene: GMNN was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GMNN was set to Unknown