Recurrent episodic apnoea
Gene: MADD
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
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 GMSCreated: 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
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
Tag Q1_24_promote_green tag was added to gene: MADD. Tag Q1_24_NHS_review tag was added to gene: MADD.
Gene: madd has been classified as Amber List (Moderate Evidence).
Publications for gene: MADD were set to PMID: 32761064
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