Skeletal dysplasia

Gene: GREM1

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

• PMID: 20610440

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.

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