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Intellectual disability

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 5 panels

2 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Single paper in humans, however, range of variants includes frameshift, sufficient cases and an appropriate and consistent phenotype
Created: 5 Mar 2018, 12:09 p.m.

Louise Daugherty (Genomics England Curator)

Comment on list classification: Promoted gene status from Red to Green due to evidence found in more than three individuals and a supporting animal model. This is a probable DD gene in Gene2Phenotype for Intellectual Disability Accompanied by Epilepsy and Autistic Features.
Created: 26 Feb 2018, 12:58 p.m.
Comment on publications: Johansen et al. (2016) PMID:27616480 identified 16 patients from 6 different consanguineous families of Middle Eastern decent with autosomal recessive mental retardation-57. Lee et al. (2012) PMID: 23097495 found that Mboat7-null mice were significantly smaller than controls and showed reduced postnatal survival. Histologic analysis of embryonic mutant mouse brains showed a smaller cerebral cortex and hippocampus, abnormal cortical lamination, delayed neuronal migration, gyral abnormalities.
Created: 26 Feb 2018, 12:54 p.m.
Comment on mode of inheritance: added MOI from OMIM and PMID: 27616480
Created: 26 Feb 2018, 12:20 p.m.
Comment on phenotypes: added phenotypes from OMIM, G2P, Orphanet
Created: 26 Feb 2018, 12:19 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Mental retardation, autosomal recessive 57, 617188
  • Intellectual Disability Accompanied by Epilepsy and Autistic Features
  • Autosomal recessive non-syndromic intellectual disability
OMIM
606048
Clinvar variants
Variants in MBOAT7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to MBOAT7.

12 Mar 2018, Gel status: 4

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

12 Mar 2018, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

MBOAT7 was added to Intellectual disability panel. Sources: Expert Review Green,Gene2Phenotype

12 Mar 2018, Gel status: 4

Created

Ellen McDonagh (Genomics England Curator)

MBOAT7 was created by Ellen McDonagh