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Intellectual disability syndromic and non-syndromic

Gene: MMAA

Green List (high evidence)

MMAA (methylmalonic aciduria (cobalamin deficiency) cblA type)
EnsemblGeneIds (GRCh38): ENSG00000151611
EnsemblGeneIds (GRCh37): ENSG00000151611
OMIM: 607481, Gene2Phenotype
MMAA is in 11 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Well established gene-disease association. DD/ID can be seen in condition.
Created: 3 Oct 2024, 1:08 a.m. | Last Modified: 3 Oct 2024, 1:08 a.m.
Panel Version: 0.6303

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Methylmalonic aciduria, vitamin B12-responsive, cblA type, MIM# 251100

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Methylmalonic aciduria, vitamin B12-responsive, cblA type, MIM# 251100
Tags
treatable
OMIM
607481
Clinvar variants
Variants in MMAA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

5 Oct 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MMAA were changed from to Methylmalonic aciduria, vitamin B12-responsive, cblA type, MIM# 251100

5 Oct 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MMAA were set to

5 Oct 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MMAA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

2 Oct 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: MMAA.

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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