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  2. Autonomic neuropathy
  3. GMPPA
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Autonomic neuropathy

Gene: GMPPA

Green List (high evidence)
GMPPA (GDP-mannose pyrophosphorylase A)
EnsemblGeneIds (GRCh38): ENSG00000144591
EnsemblGeneIds (GRCh37): ENSG00000144591
OMIM: 615495, Gene2Phenotype
GMPPA is in 10 panels

1 review

Alison Yeung (Victorian Clinical Genetics Services)

Green List (high evidence)

Sources: Literature
Created: 11 Nov 2020, 5:56 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
# 615510 ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME; AAMR

Variants in this GENE are reported as part of current diagnostic practice

Created: 11 Nov 2020, 5:56 a.m.

Panel version: 0.28

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Alacrima, achalasia, and impaired intellectual development syndrome (MIM# 615510)
OMIM
615495
Clinvar variants
Variants in GMPPA
Penetrance
None
Panels with this gene

History Filter Activity

3 Oct 2024, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: GMPPA were changed from # 615510 ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME; AAMR to Alacrima, achalasia, and impaired intellectual development syndrome (MIM# 615510)

11 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: gmppa has been classified as Green List (High Evidence).

11 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: gmppa has been classified as Green List (High Evidence).

11 Nov 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Alison Yeung (Victorian Clinical Genetics Services)

gene: GMPPA was added gene: GMPPA was added to Autonomic neuropathy. Sources: Literature Mode of inheritance for gene: GMPPA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GMPPA were set to # 615510 ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME; AAMR Review for gene: GMPPA was set to GREEN gene: GMPPA was marked as current diagnostic