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Intellectual disability

Gene: MADD

Red List (low evidence)

MADD (MAP kinase activating death domain)
EnsemblGeneIds (GRCh38): ENSG00000110514
EnsemblGeneIds (GRCh37): ENSG00000110514
OMIM: 603584, Gene2Phenotype
MADD is in 1 panel

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Anazi et al report 2 unrelated families with ID and biallelic variants. No specific functional data for variants but MADD is a regulator of neurotransmitter release and mouse model exhibits severe neuronal defects with early lethality (Del Villar and Miller 2004; Tanaka et al. 2001)
Created: 6 Mar 2020, 10 a.m. | Last Modified: 6 Mar 2020, 10 a.m.
Panel Version: 3.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability

Publications

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

Details

Sources
OMIM
603584
Clinvar variants
Variants in MADD
Penetrance
None
Panels with this gene

History Filter Activity

29 Sep 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: MADD was added gene: MADD was added to Intellectual disability. Sources: Victorian Clinical Genetics Services Mode of inheritance for gene: MADD was set to