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Intellectual disability update Jan 2018

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 4 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.
Created: 5 Mar 2018, 12:09 p.m.

Panel version: 0.302

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.
Created: 26 Feb 2018, 12:19 p.m.

Panel version: 0.99

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Gene2Phenotype
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

5 Mar 2018, Gel status: 3

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

26 Feb 2018, Gel status: 3

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

26 Feb 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for MBOAT7 were set to 27616480; 23097495

26 Feb 2018, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for MBOAT7 was changed from to BIALLELIC, autosomal or pseudoautosomal

26 Feb 2018, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for MBOAT7 were set to Mental retardation, autosomal recessive 57, 617188; Intellectual Disability Accompanied by Epilepsy and Autistic Features; Autosomal recessive non-syndromic intellectual disability

18 Dec 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MBOAT7 was added to Intellectual disability update Jan 2018 panel. Sources: Gene2Phenotype

18 Dec 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

MBOAT7 was created by Ellen McDonagh