Familial dysautonomia

Gene: GMPPA

Green List (high evidence)

GMPPA (GDP-mannose pyrophosphorylase A)
EnsemblGeneIds (GRCh38): ENSG00000144591
EnsemblGeneIds (GRCh37): ENSG00000144591
OMIM: 615495, Gene2Phenotype
GMPPA is in 7 panels

2 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)

they only share alacrima with HSAN
Created: 8 Dec 2016, 1:18 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Alice Gardham (Genomics England)

A few patients had autonomic problems, such as decreased sweating, postural hypotension, and anisocoria.
Created: 21 Nov 2016, 10:26 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Alacrima, achalasia, and mental retardation syndrome, 615510

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Alacrima, achalasia, and mental retardation syndrome, 615510
OMIM
615495
Clinvar variants
Variants in GMPPA
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.

21 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).

21 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).

21 Nov 2016, Gel status: 2

Added New Source

Alice Gardham (Genomics England)

GMPPA was added to Familial dysautonomiapanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory

21 Nov 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

GMPPA was created by agardham