Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability syndromic and non-syndromic

Gene: MBOAT7

Green List (high evidence)

MBOAT7 (membrane bound O-acyltransferase domain containing 7)
EnsemblGeneIds (GRCh38): ENSG00000125505
EnsemblGeneIds (GRCh37): ENSG00000125505
OMIM: 606048, Gene2Phenotype
MBOAT7 is in 7 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Biallelic only.
Created: 6 Nov 2024, 5:05 a.m. | Last Modified: 6 Nov 2024, 5:05 a.m.
Panel Version: 0.6621

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability MIM#617188

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

>20 families with ID and epilepsy as main features
Created: 3 Oct 2024, 12:52 a.m. | Last Modified: 3 Oct 2024, 12:52 a.m.
Panel Version: 0.6303

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Intellectual disability MIM#617188

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Intellectual disability MIM#617188
OMIM
606048
Clinvar variants
Variants in MBOAT7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Nov 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MBOAT7 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

5 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mboat7 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: MBOAT7 were changed from to Intellectual disability MIM#617188

5 Oct 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MBOAT7 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: MBOAT7 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MBOAT7 was added gene: MBOAT7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MBOAT7 was set to Unknown