UNC13A

unc-13 homolog A
OMIM: 609894, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Red UNC13A in Autism Level 2: Neurology and neurodevelopmental disorders Version 0.224	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Congenital myasthenia dyskinesia autism developmental delay
Green UNC13A in Mendeliome Version 1.3512	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital myasthenia dyskinesia autism developmental delay neurodevelopmental disorder MONDO#0700092, UNC13A-related
Green UNC13A in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.267 Component of the following Super Panels: Progressive Neurological Conditions	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes neurodevelopmental disorder MONDO#0700092, UNC13A-related
Green UNC13A in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Congenital myasthenia dyskinesia autism developmental delay neurodevelopmental disorder MONDO#0700092, UNC13A-related
Red UNC13A in Congenital Myasthenia Level 2: Neurology and neurodevelopmental disorders Version 1.18 Component of the following Super Panels: Neuromuscular Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes microcephaly, cortical hyperexcitability, and fatal myasthenia dyskinesia autism developmental delay
Red UNC13A in Monogenic Diabetes Level 2: Endocrine disorders Version 0.152 Component of the following Super Panels: Metabolic Disorders Superpanel	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Monogenic diabetes, MONDO:0015967, UNC13A-related
Red UNC13A in Fetal anomalies Version 1.465	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Congenital myasthenia dyskinesia autism developmental delay