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Prepair 1000+

Gene: ECEL1

Green List (high evidence)

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

1 review

Lisa Norbart (Victorian Clinical Genetics Services)

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. Early onset reported.
Created: 15 Oct 2024, 5:36 a.m. | Last Modified: 15 Oct 2024, 5:36 a.m.
Panel Version: 1.420

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Arthrogryposis, distal, type 5D, 615065 (3)
OMIM
605896
Clinvar variants
Variants in ECEL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: ecel1 has been classified as Green List (High Evidence).

20 Oct 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: ECEL1 were set to

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ECEL1 was added gene: ECEL1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ECEL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ECEL1 were set to Arthrogryposis, distal, type 5D, 615065 (3)