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Limb disorders

Gene: MIPOL1

Red List (low evidence)

MIPOL1 (mirror-image polydactyly 1)
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)

Red List (low evidence)

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

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