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Arthrogryposis

Gene: STAC3

Green List (high evidence)

STAC3 (SH3 and cysteine rich domain 3)
EnsemblGeneIds (GRCh38): ENSG00000185482
EnsemblGeneIds (GRCh37): ENSG00000185482
OMIM: 615521, Gene2Phenotype
STAC3 is in 4 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Although the variants were originally only reported from the same population (Lumbee Indian tribe), PMID:28777491 (Telegrafi et al., 2017) report the W284S homozygous variant in a child born of consanguineous parents from Qatar, and in a compound het state in 2 siblings from Puerto Rico. This demonstrates that this variant is not restricted to the Native American population and I have therefore removed the 'founder-effect' tag.
Created: 26 Nov 2019, 2:16 p.m. | Last Modified: 26 Nov 2019, 2:16 p.m.
Panel Version: 2.58
Updated rating from Red to Green. STAC3 is Green on the Neuromuscular arthrogryposis V0.21 panel. Bailey-Bloch congenital myopathy, is characterized by phenotypes including arthrogryposis (amongst other features). Sufficient (3) cases of Bailey-Bloch congenital myopathy.
Created: 26 Nov 2019, 2:15 p.m. | Last Modified: 26 Nov 2019, 2:15 p.m.
Panel Version: 2.57

Alice Gardham (Genomics England)

Red List (low evidence)

Mutation identified in five families from the same population only
Created: 22 Dec 2016, 1:35 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Native American myopathy 255995

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myopathy, congenital, Baily-Bloch, 255995
OMIM
615521
Clinvar variants
Variants in STAC3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

26 Nov 2019, Gel status: 3

Removed Tag

Rebecca Foulger (Genomics England curator)

Tag founder-effect was removed from gene: STAC3.

26 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: stac3 has been classified as Green List (High Evidence).

8 Jan 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: STAC3 were changed from Native American myopathy, 255995 (3) to Myopathy, congenital, Baily-Bloch, 255995

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).

22 Dec 2016, Gel status: 1

Set publications

Alice Gardham (Genomics England)

Publications for STAC3 were set to 23736855

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).

22 Dec 2016, Gel status: 1

Set Mode of Inheritance

Alice Gardham (Genomics England)

Mode of inheritance for STAC3 was changed to BIALLELIC, autosomal or pseudoautosomal

21 Dec 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

STAC3 was added to Arthrogryposispanel. Sources: Radboud University Medical Center, Nijmegen,Expert

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

STAC3 was created by ellenmcdonagh