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Intellectual disability syndromic and non-syndromic

Gene: MBD5

Green List (high evidence)

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, 4:03 a.m. | Last Modified: 6 Jun 2021, 4:03 a.m.
Panel Version: 0.3825

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
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

History Filter Activity

6 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mbd5 has been classified as Green List (High Evidence).

6 Jun 2021, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to gene: MBD5.

6 Jun 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MBD5 were changed from to Mental retardation, autosomal dominant 1, MIM# 156200; MONDO:0007974

6 Jun 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MBD5 were set to

6 Jun 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MBD5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MBD5 was added gene: MBD5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MBD5 was set to Unknown