Autonomic neuropathy

Gene: AAAS

Green List (high evidence)

AAAS (aladin WD repeat nucleoporin)
EnsemblGeneIds (GRCh38): ENSG00000094914
EnsemblGeneIds (GRCh37): ENSG00000094914
OMIM: 605378, Gene2Phenotype
AAAS is in 14 panels

1 review

Alison Yeung (Victorian Clinical Genetics Services)

Green List (high evidence)

Sources: Literature
Created: 11 Nov 2020, 5:51 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
OMIM# 231550 ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME; AAAS

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

History Filter Activity

11 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: aaas 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: aaas 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: AAAS was added gene: AAAS was added to Autonomic neuropathy. Sources: Literature Mode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AAAS were set to OMIM# 231550 ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME; AAAS Review for gene: AAAS was set to GREEN gene: AAAS was marked as current diagnostic