Skeletal dysplasia
Gene: GREM1
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
Comment when marking as ready: No direct evidence for involvement in human disease, animal models and in vitro studies suggest a role in skeletal dysplasiaCreated: 12 Jul 2016, 8:02 a.m.
Comment on list classification: No variants reportedCreated: 12 Jul 2016, 8 a.m.
Tier 1Created: 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
Promoted to version 1 9th August 2016
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Publications for GREM1 were set to 22561515; 19229034
Publications for GREM1 were set to 22561515
This gene has been classified as Red List (Low Evidence).
Mode of inheritance for GREM1 was changed to Unknown
GREM1 was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,UKGTN
GREM1 was added to Unexplained skeletal dysplasiapanel. Sources:
GREM1 was created by sleigh