Familial dysautonomia

Gene: PRDM12

Green List (high evidence)

PRDM12 (PR/SET domain 12)
EnsemblGeneIds (GRCh38): ENSG00000130711
EnsemblGeneIds (GRCh37): ENSG00000130711
OMIM: 616458, Gene2Phenotype
PRDM12 is in 9 panels

3 reviews

Horacio Kaufmann (Felicia B. Axelrod Professor of Dysautonomia Research, Department of Neurology, Department of Neurology, NYU School of Medicine, New York)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Alice Gardham (Genomics England)

Comment when marking as ready: Mutations identified in at least 11 families
Created: 17 Nov 2016, 4:42 p.m.

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with phenotype in OMIM and G2P / DD. Five homozygous variants reported in five families from different geographical origins. In vitro functional evidence also provided.
Created: 30 Aug 2016, 2:25 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neuropathy, hereditary sensory and autonomic, type VIII 616488

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type VIII 616488
OMIM
616458
Clinvar variants
Variants in PRDM12
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

1 Dec 2016, Gel status: 4

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on 1st December 2016 by Alice Gardham. Currently for pilot study only patients. Will need review following pilot study results.

17 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).

17 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).

30 Aug 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

PRDM12 was created by sleigh

30 Aug 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

PRDM12 was added to Familial dysautonomiapanel. Sources: Other