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  3. MADD
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Autonomic neuropathy

Gene: MADD

Green List (high evidence)
MADD (MAP kinase activating death domain)
EnsemblGeneIds (GRCh38): ENSG00000110514
EnsemblGeneIds (GRCh37): ENSG00000110514
OMIM: 603584, Gene2Phenotype
MADD is in 6 panels

1 review

Alison Yeung (Victorian Clinical Genetics Services)

Green List (high evidence)

Sources: Literature
Created: 11 Nov 2020, 6:22 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
OMIM# 619004 DEEAH SYNDROME; DEEAH

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

Created: 11 Nov 2020, 6:22 a.m.

Panel version: 0.34

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • OMIM# 619004 DEEAH SYNDROME
  • DEEAH
OMIM
603584
Clinvar variants
Variants in MADD
Penetrance
None
Panels with this gene

History Filter Activity

11 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: madd 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: madd 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: MADD was added gene: MADD was added to Autonomic neuropathy. Sources: Literature Mode of inheritance for gene: MADD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MADD were set to OMIM# 619004 DEEAH SYNDROME; DEEAH Review for gene: MADD was set to GREEN gene: MADD was marked as current diagnostic