Clefting
Gene: FSHMD1AFSHMD1A is in 1 panel
3 reviews
Louise Daugherty (Genomics England Curator)
Comment on list classification: demoted to Grey, this is a phenotype locus type symbolCreated: 15 Aug 2017, 2:13 p.m.
Comment on mode of inheritance: This is a locus type phenotypeCreated: 26 Jan 2017, 1:46 p.m.
This is not a gene but a phenotype, FSHMD1A is an acronym for facioscapulohumeral muscular dystrophy 1ACreated: 26 Jan 2017, 1:34 p.m.
Ellen McDonagh (Genomics England Curator)
Added tag to explain why there is no Ensembl gene ID for this entity.Created: 6 Jan 2017, 3:17 p.m.
Comment on list classification: This symbol corresponds to a "phenotype only" locus type.Created: 12 Sep 2016, 9:19 a.m.
Usha Kini (Oxford Centre for Genomic Medicine)
I have not heard of this gene in relation to human disease.Created: 8 Dec 2016, 10:56 a.m.
Details
- Mode of Inheritance
- Other - please specifiy in evaluation comments
- Sources
-
- Expert Review Removed
- Phenotypes
-
- Orofacial Clefting with skeletal features
- Tags
- Clinvar variants
- Variants in FSHMD1A
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: FSHMD1A.
Added Tag
Eleanor Williams (Genomics England Curator)Tag ensembl_ids_known_missing tag was added to gene: FSHMD1A.
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been removed from the panel.
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Mode of Inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for FSHMD1A was changed to Other - please specifiy in evaluation comments
clearsources
Louise Daugherty (Genomics England Curator)FSHMD1AAll sources for gene: FSHMD1A were removed
Approved Gene
Ellen McDonagh (Genomics England Curator)This proposed gene was validated and added to this panel
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
Added New Source
Olivia Niblock (Genomics England Curator)FSHMD1A was added to Cleftingpanel. Sources: UKGTN
Created
Olivia Niblock (Genomics England Curator)FSHMD1A was created by oniblock