This Panel is marked as Internal
Coarse facial features including Coffin-Siris-like disorders
Gene: AFF4
AFF4 (AF4/FMR2 family member 4)
EnsemblGeneIds (GRCh38): ENSG00000072364
EnsemblGeneIds (GRCh37): ENSG00000072364
OMIM: 604417, Gene2Phenotype
AFF4 is in 3 panels
EnsemblGeneIds (GRCh38): ENSG00000072364
EnsemblGeneIds (GRCh37): ENSG00000072364
OMIM: 604417, Gene2Phenotype
AFF4 is in 3 panels
2 reviews
Alice Gardham (Genomics England)
Comment when marking as ready: Recognised on G2P. Green on ID panelCreated: 23 Nov 2016, 10 a.m.
alisdair mcneill (Sheffield childrens hospital)
http://www.ncbi.nlm.nih.gov/pubmed/25730767 demonstrates germline gain of function mutations in syndrome that resembles de LangeCreated: 1 Jul 2016, 7:56 a.m.
Publications
- http://www.ncbi.nlm.nih.gov/pubmed/25730767
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- CHOPS syndrome 616368
- OMIM
- 604417
- Clinvar variants
- Variants in AFF4
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
24 Nov 2016, Gel status: 4
Set Phenotypes
Alice Gardham (Genomics England)Phenotypes for AFF4 were set to CHOPS syndrome 616368
23 Nov 2016, Gel status: 4
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
23 Nov 2016, Gel status: 4
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
14 Nov 2016, Gel status: 0
Approved Gene
Ellen McDonagh (Genomics England Curator)This proposed gene was validated and added to this panel
29 Jan 2016, Gel status: 0
Created
Alice Gardham (North West Thames Genetics)AFF4 was created by alicegardham
29 Jan 2016, Gel status: 0
Added New Source
Alice Gardham (North West Thames Genetics)AFF4 was added to Coarse facial features including Coffin-Siris-like disorderspanel. Sources: Literature