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Skeletal dysplasia

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 8 panels

3 reviews

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, 11:17 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

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
Unknown
Sources
  • Expert Review Red
  • UKGTN
  • Emory Genetics Laboratory
  • Expert list
OMIM
603054
Clinvar variants
Variants in GREM1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

9 Aug 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

12 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

12 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

12 Jul 2016, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for GREM1 were set to 22561515; 19229034

12 Jul 2016, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for GREM1 were set to 22561515

12 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

12 Jul 2016, Gel status: 2

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for GREM1 was changed to Unknown

12 Jul 2016, Gel status: 2

Upload gene information

Sarah Leigh (Genomics England Curator)

GREM1 was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,UKGTN

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

GREM1 was added to Unexplained skeletal dysplasiapanel. Sources:

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

GREM1 was created by sleigh