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Intellectual disability syndromic and non-syndromic

Gene: MAB21L2

Green List (high evidence)

MAB21L2 (mab-21 like 2)
EnsemblGeneIds (GRCh38): ENSG00000181541
EnsemblGeneIds (GRCh37): ENSG00000181541
OMIM: 604357, Gene2Phenotype
MAB21L2 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 7 unrelated families reported with microphthalmia/anophthalmia/coloboma and rhizomelia. Several individuals with the c.151C > T (p.Arg51Cys) variant also had ID. One family reported with eye phenotype and bi-allelic missense variants, LIMITED evidence for bi-allelic disease. Three different animal models support gene-disease association.
Created: 27 Dec 2020, 3:20 a.m. | Last Modified: 27 Dec 2020, 3:20 a.m.
Panel Version: 0.3341

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Microphthalmia/coloboma and skeletal dysplasia syndrome, MIM# 615877

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Microphthalmia/coloboma and skeletal dysplasia syndrome, MIM# 615877
OMIM
604357
Clinvar variants
Variants in MAB21L2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mab21l2 has been classified as Green List (High Evidence).

27 Dec 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MAB21L2 were changed from to Microphthalmia/coloboma and skeletal dysplasia syndrome, MIM# 615877

27 Dec 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MAB21L2 were set to

27 Dec 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MAB21L2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MAB21L2 was added gene: MAB21L2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MAB21L2 was set to Unknown