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Arthrogryposis

Gene: SCARF2

Green List (high evidence)

SCARF2 (scavenger receptor class F member 2)
EnsemblGeneIds (GRCh38): ENSG00000244486
EnsemblGeneIds (GRCh37): ENSG00000244486
OMIM: 613619, Gene2Phenotype
SCARF2 is in 7 panels

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Reasonable number of reported cases.
Created: 9 Jan 2017, 3:52 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Van den Ende-Gupta syndrome 600920

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Van den Ende-Gupta syndrome 600920
OMIM
613619
Clinvar variants
Variants in SCARF2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

16 Jan 2017, Gel status: 4

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.

9 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

9 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

9 Jan 2017, Gel status: 1

Added New Source

Alice Gardham (Genomics England)

SCARF2 was added to Arthrogryposispanel. Sources: Radboud University Medical Center, Nijmegen,Literature

9 Jan 2017, Gel status: 0

Created

Alice Gardham (Genomics England)

SCARF2 was created by agardham