PUM1

pumilio RNA binding family member 1
OMIM: 607204, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Red PUM1 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.400	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism, MIM#620719 Spinocerebellar ataxia 47, MIM#617931
Green PUM1 in Mendeliome Version 1.3512	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 47, MIM# 617931 Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism, MIM# 620719
Green PUM1 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 Expert Review Phenotypes Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism, MIM# 620719
Green PUM1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism, MIM# 620719
Green PUM1 in Ataxia - adult onset Level 2: Neurology and neurodevelopmental disorders Version 1.59 Component of the following Super Panels: Ataxia_Superpanel Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 47, 617931