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Recurrent episodic apnoea

Gene: MADD

Amber List (moderate evidence)
MADD (MAP kinase activating death domain)
EnsemblGeneIds (GRCh38): ENSG00000110514
EnsemblGeneIds (GRCh37): ENSG00000110514
OMIM: 603584, Gene2Phenotype
MADD is in 3 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Apnoea is a feature of DEEAH syndrome (OMIM:619004) and Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia (OMIM:619005), both of which are caused by biallelic MADD variants (PMID: 32761064).
Created: 12 Feb 2024, 4:06 p.m. | Last Modified: 12 Feb 2024, 4:06 p.m.
Panel Version: 1.6
Created: 12 Feb 2024, 4:06 p.m.
Last Modified: 12 Feb 2024, 4:06 p.m.
Panel version: 1.6

Karen Stals (Royal Devon and Exeter Hospital)

Green List (high evidence)

Apnoea a presenting feature in 13/14 patients with MADD-related disorder with biallelic MADD variants in Schneeberger et al 2020 PMID: 32761064. Identified biallelic variants in this gene in a patient with a consistent phenotype. Sources: NHS GMS
Created: 4 Dec 2023, 1:04 p.m. | Last Modified: 4 Dec 2023, 1:05 p.m.
Panel Version: 1.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Developmental delay; hypotonia, failure to thrive; apnoea; seizures, reduced pain; endocrine and exocrine dysfunction

Publications

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

Created: 4 Dec 2023, 1:04 p.m.
Last Modified: 4 Dec 2023, 1:05 p.m.
Panel version: 1.3

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • DEEAH syndrome, OMIM:619004
  • deeah syndrome, MONDO:0033561: Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia, OMIM:619005
  • neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia, MONDO:0033562
OMIM
603584
Clinvar variants
Variants in MADD
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

28 Sep 2025, Gel status: 2

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q1_24_promote_green was removed from gene: MADD. Tag Q1_24_NHS_review was removed from gene: MADD.

12 Feb 2024, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: MADD were changed from Developmental delay; hypotonia, failure to thrive; apnoea; seizures, reduced pain; endocrine and exocrine dysfunction to DEEAH syndrome, OMIM:619004; deeah syndrome, MONDO:0033561: Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia, OMIM:619005; neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia, MONDO:0033562

12 Feb 2024, Gel status: 2

Added Tag, Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q1_24_promote_green tag was added to gene: MADD. Tag Q1_24_NHS_review tag was added to gene: MADD.

6 Feb 2024, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: madd has been classified as Amber List (Moderate Evidence).

6 Feb 2024, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: MADD were set to PMID: 32761064

4 Dec 2023, Gel status: 0

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

Karen Stals (Royal Devon and Exeter Hospital)

gene: MADD was added gene: MADD was added to Recurrent episodic apnoea. Sources: NHS GMS Mode of inheritance for gene: MADD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MADD were set to PMID: 32761064 Phenotypes for gene: MADD were set to Developmental delay; hypotonia, failure to thrive; apnoea; seizures, reduced pain; endocrine and exocrine dysfunction Penetrance for gene: MADD were set to Complete Review for gene: MADD was set to GREEN gene: MADD was marked as current diagnostic