Arthrogryposis
Gene: ECEL1

ECEL1 (endothelin converting enzyme like 1)
EnsemblGeneIds (GRCh38): ENSG00000171551
EnsemblGeneIds (GRCh37): ENSG00000171551
OMIM: 605896, Gene2Phenotype
ECEL1 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Autosomal recessive disorder characterised by severe camptodactyly of the hands, including adducted thumbs and wrists; mild camptodactyly of the toes; clubfoot and/or a calcaneovalgus deformity; extension contractures of the knee; unilateral ptosis or ptosis that is more severe on one side; a round-shaped face; arched eyebrows; a bulbous, upturned nose; and micrognathia.

More than 15 unrelated families reported.
Created: 2 Nov 2020, 8:05 p.m. | Last Modified: 2 Nov 2020, 8:05 p.m.

Panel Version: 0.239

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Arthrogryposis, distal, type 5D, MIM# 615065

Publications

Created: 2 Nov 2020, 8:05 p.m.
Last Modified: 2 Nov 2020, 8:05 p.m.
Panel version: 0.239

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Arthrogryposis, distal, type 5D, MIM# 615065

OMIM

605896

Clinvar variants

Variants in ECEL1

Penetrance

None

Publications

Panels with this gene