Limb disorders
Gene: MIPOL1
MIPOL1 (mirror-image polydactyly 1)
EnsemblGeneIds (GRCh38): ENSG00000151338
EnsemblGeneIds (GRCh37): ENSG00000151338
OMIM: 606850, Gene2Phenotype
MIPOL1 is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000151338
EnsemblGeneIds (GRCh37): ENSG00000151338
OMIM: 606850, Gene2Phenotype
MIPOL1 is in 1 panel
3 reviews
Eleanor Williams (Genomics England Curator)
Genomics England clinical team notes - Agree with red rating. Still only a single article and single patient with disruption to this gene.Created: 9 Sep 2018, 7:51 p.m.
Rachel Jones (GSTT)
Single paper describes translocation causing a breakpoint in intron 11 of a novel gene, which they called MIPOL1. No functional evidence.Created: 24 Apr 2018, 10:49 a.m.
Mode of inheritance
Unknown
Phenotypes
mirror-image polydactyly
Publications
- PMID: 11954550
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Currently only one case identified in literature search (PMID: 11954550).Created: 9 Apr 2018, 2:50 p.m.
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Other
- Phenotypes
-
- Mirror-image polydactyly of hands and feet
- OMIM
- 606850
- Clinvar variants
- Variants in MIPOL1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
11 Dec 2018, Gel status: 1
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Ellen McDonagh: Comment on list classification
9 Apr 2018, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
9 Apr 2018, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
9 Apr 2018, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)MIPOL1 was added to Limb disorders panel. Sources: Other
9 Apr 2018, Gel status: 1
Created
Ellen McDonagh (Genomics England Curator)MIPOL1 was created by Ellen McDonagh