Arthrogryposis
Gene: CRLF1EnsemblGeneIds (GRCh38): ENSG00000006016
EnsemblGeneIds (GRCh37): ENSG00000006016
OMIM: 604237, Gene2Phenotype
CRLF1 is in 2 panels
1 review
Alice Gardham (Genomics England)
Comment on list classification: Discussed internally -bilateral camptodatyly may occurCreated: 4 Jan 2017, 3:24 p.m.
Associated with camptodactyly onlyCreated: 4 Jan 2017, 10:22 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Cold-induced sweating syndrome 1 272430
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Cold-induced sweating syndrome 1 272430
- OMIM
- 604237
- Clinvar variants
- Variants in CRLF1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 2
Ellen McDonagh (Genomics England Curator)16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Alice Gardham (Genomics England)Phenotypes for CRLF1 were set to Cold-induced sweating syndrome 1 272430
Set publications
Alice Gardham (Genomics England)Publications for CRLF1 were set to 12509788
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Created
Ellen McDonagh (Genomics England Curator)CRLF1 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)CRLF1 was added to Arthrogryposispanel. Sources: Expert list