Holoprosencephaly - NOT chromosomal
Gene: GCM2EnsemblGeneIds (GRCh38): ENSG00000124827
EnsemblGeneIds (GRCh37): ENSG00000124827
OMIM: 603716, Gene2Phenotype
GCM2 is in 3 panels
4 reviews
Louise Daugherty (Genomics England Curator)
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene RedCreated: 29 Jul 2019, 2:15 p.m. | Last Modified: 29 Jul 2019, 2:15 p.m.
Panel Version: 1.20
Helen Brittain (Genomics England Curator)
Comment when marking as ready: I cannot find evidence of a causal link between this gene and holoprosencephaly in PubMed or OMIM. Considered red on the current evidence.Created: 31 May 2017, 12:02 p.m.
Lara Menzies (Great Ormond Street Hospital )
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Nonsyndromic Holoprosencephaly; Hypoparathyroidism, familial isolated (AD)
Ellen McDonagh (Genomics England Curator)
The "Hypoparathyroidism, familial isolated" phenotype and the mode of inheritance for that phenotype were sourced from OMIM. This gene is on the UKGTN Nonsyndromic Holoprosencephaly 6 Gene Panel.Created: 8 Jan 2016, 1:42 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Red
- Other
- UKGTN
- Phenotypes
-
- Hypoparathyroidism, familial isolated (AD)
- OMIM
- 603716
- Clinvar variants
- Variants in GCM2
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to GCM2.
panel promoted to version 1
Helen Brittain (Genomics England Curator)Promoted to version one after review within the genomics England curation team.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Helen Brittain (Genomics England Curator)Phenotypes for GCM2 were set to Hypoparathyroidism, familial isolated (AD)
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene GCM2 were set to Nonsyndromic Holoprosencephaly; Hypoparathyroidism, familial isolated (AD)
Upload gene information
Ellen McDonagh (Genomics England Curator)GCM2 was added to Holoprosencephalypanel. Sources: Other
Created
Ellen McDonagh (Genomics England Curator)GCM2 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)GCM2 was added to Holoprosencephalypanel. Sources: UKGTN