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Growth failure

Gene: MCM5

Red List (low evidence)

MCM5 (minichromosome maintenance complex component 5)
EnsemblGeneIds (GRCh38): ENSG00000100297
EnsemblGeneIds (GRCh37): ENSG00000100297
OMIM: 602696, Gene2Phenotype
MCM5 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single individual reported.
Created: 30 Aug 2021, 2:24 a.m. | Last Modified: 30 Aug 2021, 2:24 a.m.
Panel Version: 0.353

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Meier-Gorlin syndrome 8 (MIM#617564)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Meier-Gorlin syndrome 8 (MIM#617564)
OMIM
602696
Clinvar variants
Variants in MCM5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Aug 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mcm5 has been classified as Red List (Low Evidence).

30 Aug 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MCM5 were changed from ?Meier-Gorlin syndrome 8 to Meier-Gorlin syndrome 8 (MIM#617564)

19 Jul 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MCM5 was added gene: MCM5 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red Mode of inheritance for gene: MCM5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MCM5 were set to 28198391 Phenotypes for gene: MCM5 were set to ?Meier-Gorlin syndrome 8