Arthrogryposis
Gene: SGCD
SGCD (sarcoglycan delta)
EnsemblGeneIds (GRCh38): ENSG00000170624
EnsemblGeneIds (GRCh37): ENSG00000170624
OMIM: 601411, Gene2Phenotype
SGCD is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000170624
EnsemblGeneIds (GRCh37): ENSG00000170624
OMIM: 601411, Gene2Phenotype
SGCD is in 9 panels
1 review
Alice Gardham (Genomics England)
Comment when marking as ready: No known association with arthrogryposisCreated: 22 Dec 2016, 3:24 p.m.
Details
- Sources
-
- Expert Review Red
- Expert list
- OMIM
- 601411
- Clinvar variants
- Variants in SGCD
- Penetrance
- Complete
- Panels with this gene
-
- Paediatric or syndromic cardiomyopathy
- Non-syndromic familial congenital anorectal malformations
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Hereditary neuropathy or pain disorder
- Dilated Cardiomyopathy and conduction defects
- Fetal anomalies
- Hereditary neuropathy
- Arthrogryposis
- Dilated and arrhythmogenic cardiomyopathy
History Filter Activity
16 Jan 2017, Gel status: 1
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.
22 Dec 2016, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
21 Dec 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)SGCD was added to Arthrogryposispanel. Sources: Expert list
21 Dec 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)SGCD was created by ellenmcdonagh