MAB21L1

mab-21 like 1
OMIM: 601280, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Amber MAB21L1 in Ataxia and cerebellar anomalies - narrow panel Level 2: Neurology Version 9.3 Latest signed off version: v9.0 (6 May 2026) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Cerebellar, ocular, craniofacial, and genital syndrome, OMIM:618479 cerebellar, ocular, craniofacial, and genital syndrome, MONDO:0032774 Tags Q2_26_promote_green
Amber MAB21L1 in Albinism or congenital nystagmus Level 2: Ophthalmology Version 4.8 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Cerebellar, ocular, craniofacial, and genital syndrome, OMIM:618479 cerebellar, ocular, craniofacial, and genital syndrome, MONDO:0032774 Tags Q2_26_promote_green
Amber MAB21L1 in Corneal dystrophy Level 2: Ophthalmology Version 4.9 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Cerebellar, ocular, craniofacial, and genital syndrome, OMIM:618479 cerebellar, ocular, craniofacial, and genital syndrome, MONDO:0032774 Tags Q2_26_promote_green
Green MAB21L1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 7.11 Latest signed off version: v7.0 (6 May 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Cerebellar, ocular, craniofacial, and genital syndrome OMIM:618479
Green MAB21L1 in DDG2P Version 7.1 Latest signed off version: v7.0 (6 May 2026) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes Cerebello-Oculo-Facio-Genital syndrome
Green MAB21L1 in Intellectual disability Level 2: Developmental disorders Version 10.18 Latest signed off version: v10.0 (6 May 2026) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Literature Phenotypes Cerebellar, ocular, craniofacial, and genital syndrome OMIM:618479
Amber MAB21L1 in Structural eye disease Level 2: Ophthalmology Version 5.6 Latest signed off version: v5.0 (6 May 2026)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes microphthalmia, MONDO:0021129 aniridia, MONDO:0019172 Tags Q2_26_promote_green