Autism
Gene: MBD5

MBD5 (methyl-CpG binding domain protein 5)
EnsemblGeneIds (GRCh38): ENSG00000204406
EnsemblGeneIds (GRCh37): ENSG00000204406
OMIM: 611472, Gene2Phenotype
MBD5 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 30 unrelated families reported. Deletions are common. Key clinical features include moderate-to-severe ID, epilepsy and behavioural issues. Epilepsy syndromes include Lennox-Gastaut syndrome, myoclonic-atonic epilepsy, and infantile spasms syndrome. Behavioral problems include aggression, self-injurious behaviour, and sleep disturbance.
Created: 6 Jun 2021, 4:06 a.m. | Last Modified: 6 Jun 2021, 4:06 a.m.

Panel Version: 0.152

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation, autosomal dominant 1, MIM# 156200; MONDO:0007974

Publications

Created: 6 Jun 2021, 4:06 a.m.
Last Modified: 6 Jun 2021, 4:06 a.m.
Panel version: 0.152

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Mental retardation, autosomal dominant 1, MIM# 156200
MONDO:0007974

Tags

SV/CNV

OMIM

611472

Clinvar variants

Variants in MBD5

Penetrance

None

Publications

Panels with this gene