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Intellectual disability syndromic and non-syndromic

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

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Assessed as MODERATE by ClinGen.
Created: 22 Apr 2024, 4:49 a.m. | Last Modified: 22 Apr 2024, 4:49 a.m.
Panel Version: 0.5780

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Kristin Rigbye (Victorian Clinical Genetics Services)

Green List (high evidence)

Homozygous variants (5 truncating, 1 missense predicted to cause a loss of function) have been reported in at least 6 unrelated families, with both males and females affected (PMID: 27103078; 30487245). "Cardinal features of this syndrome include a characteristic facial gestalt, corneal dystrophy, hairy nipples, underdeveloped labioscrotal folds and scrotum/scrotal agenesis as well as cerebellar hypoplasia with ataxia and variable microcephaly" (PMID:30487245).
Created: 20 Apr 2020, 2:21 a.m. | Last Modified: 20 Apr 2020, 2:21 a.m.
Panel Version: 0.2528

Phenotypes
Syndromic scrotal agenesis; syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome); Cerebello-Oculo-Facio-Genital syndrome

Publications

Sue White (Victorian Clinical Genetics Services)

Green List (high evidence)

Sources: Literature
Created: 29 Jan 2020, 1:49 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

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

History Filter Activity

20 Apr 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MAB21L1 were set to 30487245

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

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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 Intellectual disability syndromic and non-syndromic. 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 MIM#618479 Penetrance for gene: MAB21L1 were set to Complete Review for gene: MAB21L1 was set to GREEN