UNC13A

unc-13 homolog A
OMIM: 609894, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Amber UNC13A in Congenital myaesthenic syndrome Level 2: Neurology Version 5.8 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Wessex and West Midlands GLH Phenotypes congenital myasthenic syndrome, MONDO:0018940 Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, OMIM:621455 Tags Q4_25_promote_green Q4_25_NHS_review
Red UNC13A in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.21 Latest signed off version: v8.0 (30 Apr 2025)	review	Unknown	Sources Expert Review Red
Red UNC13A in Amyotrophic lateral sclerosis/motor neuron disease Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.74	review	Unknown	Sources Literature
Green UNC13A in DDG2P Version 6.447 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes UNC13A-related congenital epileptic encephalopathy and severe neuromuscular disorder MONDO:0100038 UNC13A-related neurodevelopmental disorder with ataxia and tremor or dyskinetic movements
Green UNC13A in Early onset or syndromic epilepsy Level 2: Neurology Version 8.176 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, OMIM:621456 Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, OMIM:621455 ?Intellectual development disorder with seizures and dysmorphic facies , OMIM:621457
Green UNC13A in Intellectual disability Level 2: Developmental disorders Version 9.370 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Literature Phenotypes Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, OMIM:621456 Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, OMIM:621455 ?Intellectual development disorder with seizures and dysmorphic facies , OMIM:621457