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Intellectual disability

Gene: MAB21L1

Green List (high evidence)
MAB21L1 (mab-21 like 1)
EnsemblGeneIds (GRCh38): ENSG00000180660
EnsemblGeneIds (GRCh37): ENSG00000180660
OMIM: 601280, Gene2Phenotype
MAB21L1 is in 3 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by external exprt and reviewed by curation team. Sufficient evidence has been provided by the external expert review for this gene to be rated green. It is not associated with any phenotypes on OMIM or Gene2Phenotype.
Created: 18 Feb 2019, 11:36 a.m.
Created: 18 Feb 2019, 11:36 a.m.

Panel version: 2.659

Konstantinos Varvagiannis (Other)

Green List (high evidence)

Bruel et al. (PMID: 27103078) report on a boy, born to consanguineous Algerian parents, homozygous for a frameshift MAB21L1 variant.

Rad et al. (http://dx.doi.org/10.1136/jmedgenet-2018-105623) describe 10 additional individuals from 5 unrelated consanguineous families (from Iran, Lebanon and Turkey). These subjects were homozygous for truncating variants appart from a patient with a missense one [NM_005584.4:c.698A>C or p.(Gln233Pro)].

All 11 individuals presented with a common phenotype consisting of DD/ID (in 9/11 for whom this information was available), cerebellar, ocular and genital anomalies as well as similar facial features.

In total 6 different variants (5 truncating and 1 missense SNV) have been reported. There are no functional studies performed appart from in silico visualisation for the missense variant and protein interaction network analysis for MAB21L1. Previous studies in Mab21l1 knockout mice suggest ocular as well as preputial gland anomalies.

ID appears to be a feature for biallelic mutations in MAB21L2, another member of the male abnormal 21 (MAB21)-like proteins (gene rated green in this panel - associated phenotype : Microphthalmia/coloboma and skeletal dysplasia syndrome, MIM 615877).

MAB21L1 is included in gene panels for intellectual disability offered by (a few) diagnostic laboratories.

As a result, this gene can be considered for inclusion in this panel as green (or amber)
Sources: Literature
Created: 30 Nov 2018, 4:12 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Global developmental delay; Intellectual disability; Cerebellar hypoplasia; Abnormality of the eye; Abnormality of the genital system

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 30 Nov 2018, 4:12 p.m.

Panel version: 2.561

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Global developmental delay
  • Intellectual disability
  • Cerebellar hypoplasia
  • Abnormality of the eye
  • Abnormality of the genital system
  • No OMIM number
OMIM
601280
Clinvar variants
Variants in MAB21L1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

18 Feb 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: mab21l1 has been classified as Green List (High Evidence).

18 Feb 2019, Gel status: 0

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: MAB21L1 were set to 27103078

18 Feb 2019, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: MAB21L1 were changed from Global developmental delay; Intellectual disability; Cerebellar hypoplasia; Abnormality of the eye; Abnormality of the genital system to Global developmental delay; Intellectual disability; Cerebellar hypoplasia; Abnormality of the eye; Abnormality of the genital system; No OMIM number

30 Nov 2018, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Konstantinos Varvagiannis (Other)

gene: MAB21L1 was added gene: MAB21L1 was added to Intellectual disability. Sources: Literature,Expert Review Mode of inheritance for gene: MAB21L1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAB21L1 were set to 27103078 Phenotypes for gene: MAB21L1 were set to Global developmental delay; Intellectual disability; Cerebellar hypoplasia; Abnormality of the eye; Abnormality of the genital system Penetrance for gene: MAB21L1 were set to Complete Review for gene: MAB21L1 was set to GREEN gene: MAB21L1 was marked as current diagnostic