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  2. Coarse facial features including Coffin-Siris-like disorders
  3. FBXO31
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Coarse facial features including Coffin-Siris-like disorders

Gene: FBXO31

Red List (low evidence)
FBXO31 (F-box protein 31)
EnsemblGeneIds (GRCh38): ENSG00000103264
EnsemblGeneIds (GRCh37): ENSG00000103264
OMIM: 609102, Gene2Phenotype
FBXO31 is in 2 panels

2 reviews

Alice Gardham (Genomics England)

Comment when marking as ready: Only reported in one family
Created: 23 Nov 2016, 10:28 a.m.
Created: 23 Nov 2016, 10:28 a.m.

Panel version: 0.51

Alice Gardham (North West Thames Genetics)

Red List (low evidence)

Mutations only identified in one family
Created: 7 Feb 2016, 1:59 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Autosomal receeive mental retardation 45, 615979

Publications

Created: 7 Feb 2016, 1:59 p.m.

Panel version: 0.24

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Autosomal recessive mental retardation 45, 615979
OMIM
609102
Clinvar variants
Variants in FBXO31
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

23 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

14 Nov 2016, Gel status: 0

Approved Gene

Ellen McDonagh (Genomics England Curator)

This proposed gene was validated and added to this panel

7 Feb 2016, Gel status: 0

Created

Alice Gardham (North West Thames Genetics)

FBXO31 was created by alicegardham

7 Feb 2016, Gel status: 0

Added New Source

Alice Gardham (North West Thames Genetics)

FBXO31 was added to Coarse facial features including Coffin-Siris-like disorderspanel. Sources: Literature