MAB21L1

mab-21 like 1
OMIM: 601280, ClinGen, DECIPHER

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green MAB21L1 in Anophthalmia_Microphthalmia_Coloboma Level 2: Ophthalmological disorders Version 2.7	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cerebellar, ocular, craniofacial, and genital syndrome OMIM#618479 Microphthalmia MONDO:0021129, MAB21L1-related
Green MAB21L1 in Cerebellar and Pontocerebellar Hypoplasia Level 2: Neurology and neurodevelopmental disorders Version 2.6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cerebellar, ocular, craniofacial, and genital syndrome 618479
Green MAB21L1 in Mendeliome Version 2.588	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cerebellar, ocular, craniofacial, and genital syndrome #MIM 618479 Microphthalmia MONDO:0021129, MAB21L1-related
Green MAB21L1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.145	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cerebellar, ocular, craniofacial, and genital syndrome MIM#618479
Green MAB21L1 in Ataxia Level 2: Neurology and neurodevelopmental disorders Version 2.157 Component of the following Super Panels: Movement Disorders Superpanel Neurodegenerative disease - adult onset Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes cerebellar, ocular, craniofacial, and genital syndrome, MONDO:0032774
Green MAB21L1 in Fetal anomalies Version 2.81	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Cerebellar, ocular, craniofacial, and genital syndrome OMIM#618479 Microphthalmia MONDO:0021129, MAB21L1-related