Anophthalmia_Microphthalmia_Coloboma

Gene: MAB21L1

Green List (high evidence)

MAB21L1 (mab-21 like 1)
EnsemblGeneIds (GRCh38): ENSG00000180660
EnsemblGeneIds (GRCh37): ENSG00000180660
OMIM: 601280, Gene2Phenotype
MAB21L1 is in 5 panels

1 review

Sue White (Victorian Clinical Genetics Services)

Green List (high evidence)

Sources: Literature
Created: 29 Jan 2020, 2:01 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebellar, ocular, craniofacial, and genital syndrome OMIM#618479

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cerebellar, ocular, craniofacial, and genital syndrome OMIM#618479
OMIM
601280
Clinvar variants
Variants in MAB21L1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

29 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Sue White (Victorian Clinical Genetics Services)

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

29 Jan 2020, Gel status: 1

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

Sue White (Victorian Clinical Genetics Services)

gene: MAB21L1 was added gene: MAB21L1 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature Mode of inheritance for gene: MAB21L1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAB21L1 were set to 30487245 Phenotypes for gene: MAB21L1 were set to Cerebellar, ocular, craniofacial, and genital syndrome OMIM#618479 Penetrance for gene: MAB21L1 were set to Complete Review for gene: MAB21L1 was set to GREEN