MAB21L1

Chr 13AR

mab-21 like 1

Also known as: CAGR1, COFG, Nbla00126

NCBI Gene: 4081 ENSG00000180660 UniProt: Q13394 OMIM: 601280

MAB21L1 encodes a putative nucleotidyltransferase that binds single-stranded RNA and is required for normal embryonic development of the eye and other structures. Biallelic mutations cause cerebellar, ocular, craniofacial, and genital syndrome, which follows autosomal recessive inheritance. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.628), consistent with its role in multiple developmental processes.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene is similar to the MAB-21 cell fate-determining gene found in C. elegans. It may be involved in eye and cerebellum development, and it has been proposed that expansion of a trinucleotide repeat region in the 5' UTR may play a role in a variety of psychiatric disorders. [provided by RefSeq, Oct 2008]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Cerebellar, ocular, craniofacial, and genital syndromeMIM #618479

Clinical highlights

Gene-disease validity (ClinGen)

cerebellar, ocular, craniofacial, and genital syndrome · ARStrongappropriate for clinical testing

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.63

LOEUF

LOF

Mechanism· G2P