Holoprosencephaly

Gene: GCM2

Red List (low evidence)

GCM2 (glial cells missing homolog 2)
EnsemblGeneIds (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 Red
Created: 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 )

Red List (low evidence)

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
  • 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

29 Jul 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to GCM2.

31 May 2017, Gel status: 1

panel promoted to version 1

Helen Brittain (Genomics England Curator)

Promoted to version one after review within the genomics England curation team.

31 May 2017, Gel status: 1

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

31 May 2017, Gel status: 1

Set Phenotypes

Helen Brittain (Genomics England Curator)

Phenotypes for GCM2 were set to Hypoparathyroidism, familial isolated (AD)

8 Jan 2016, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene GCM2 were set to Nonsyndromic Holoprosencephaly; Hypoparathyroidism, familial isolated (AD)

8 Jan 2016, Gel status: 1

Upload gene information

Ellen McDonagh (Genomics England Curator)

GCM2 was added to Holoprosencephalypanel. Sources: Other

8 Jan 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

GCM2 was created by ellenmcdonagh

8 Jan 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GCM2 was added to Holoprosencephalypanel. Sources: UKGTN