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Limb disorders

Gene: GREM1

Red List (low evidence)

GREM1 (gremlin 1, DAN family BMP antagonist)
EnsemblGeneIds (GRCh38): ENSG00000166923
EnsemblGeneIds (GRCh37): ENSG00000166923
OMIM: 603054, Gene2Phenotype
GREM1 is in 9 panels

6 reviews

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

Not associated with a disease in OMIM and not currently Green on a v1 panel in PanelApp. Associated with HEREDITARY MIXED POLYPOSIS in Gene2Phenotype. In PMID: 20610440 large deletions in a patient with limb disorders, a 1.7 Mb duplication encompassing both the GREM1 and FMN1 genes was detected in a patient with isolated Cenani-Lenz-like oligosyndactyly of the hands, resembling the transgenic chick wings in which Grem1 was over-expressed. GREM1 is involved in limb development (see publications), but there does not seem to be enough evidence at this time that variants in this gene alone can result in limb disorders in patients.
Created: 7 Nov 2018, 1:26 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

Eleanor Williams (Genomics England Curator)

Genomics England clinical team notes - Agree with red rating. No evidence of sequence changes in human limb disease.
Created: 9 Sep 2018, 6:16 p.m.

Rachel Jones (GSTT)

Red List (low evidence)

Animal models (chick, mouse) show limb defects (eg PMID: 15198975).

PMID: 20610440 - single patient with homozygous deletion of GREM1 (as well as neighbouring FMN1 - OMIM 136535, which has a mouse model with limb defect) had isolated oligosyndactyly of both hands.

No further publications since 2010.

No small sequence variations described either in publications (search term GREM1 limb, human) or in whole DDD cohort.
Created: 24 Apr 2018, 11:15 a.m.

Mode of inheritance
Unknown

Publications

Olivia Niblock (Genomics England Curator)

Red List (low evidence)

One paper (20610440) to suggest that loss of function variants in this gene are linked to limb abnormalities (among other phenotypes, such as hearing loss and renal function impact). Animal models suggests role in skeletal dysplasia.
Created: 5 Apr 2018, 12:41 p.m.

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: No direct evidence for involvement in human disease, animal models and in vitro studies suggest a role in skeletal dysplasia
Created: 12 Jul 2016, 8:02 a.m.
Comment on list classification: No variants reported
Created: 12 Jul 2016, 8 a.m.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 1
Created: 17 Jun 2016, 8:04 a.m.

Mode of inheritance
Unknown

Phenotypes
Cenani Lenz syndactyly 212780

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Tags
watchlist structural-variant
OMIM
603054
Clinvar variants
Variants in GREM1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 1

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ana Beleza: Tier 1

7 Nov 2018, Gel status: 1

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: grem1 has been classified as Red List (Low Evidence).

7 Nov 2018, Gel status: 1

Added Tag

Eleanor Williams (Genomics England Curator)

Tag watchlist tag was added to gene: GREM1.

7 Nov 2018, Gel status: 1

Added New Source, Set mode of inheritance, Set publications

Eleanor Williams (Genomics England Curator)

Source Expert Review Red was added to GREM1. Mode of inheritance for gene GREM1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene GREM1 were changed from 20610440 to 26527308; 22888807; 16908629; 15201225; 20610440; 22965740

5 Apr 2018, Gel status: 1

Removed Source, Removed Source, Added New Source, Set mode of inheritance, Set publications, Added Tag

Olivia Niblock (Genomics England Curator)

Source London South East RGC GSTT was removed from GREM1. Panel: Limb disorders Source Viapath was removed from GREM1. Panel: Limb disorders Literature was added to GREM1. Panel: Limb disorders Model of inheritance for gene GREM1 was set to Unknown Publications for gene GREM1 was set to ['20610440'] structural-variant was added to GREM1. Panel: Limb disorders

27 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

London South East RGC GSTT was added to GREM1. Panel: Limb disorders

17 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GREM1 was added to Limb disorders panel. Sources: Viapath

17 Nov 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

GREM1 was created by Ellen McDonagh