RFC1

replication factor C subunit 1
OMIM: 102579, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Amber RFC1 in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Literature Phenotypes Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575 Tags STR
Amber RFC1 in Ataxia - adult onset Level 2: Neurology and neurodevelopmental disorders Version 1.16 Component of the following Super Panels: Ataxia_Superpanel Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Literature Phenotypes Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575 Tags STR
Amber RFC1 in Hereditary Neuropathy - complex Level 2: Neurology and neurodevelopmental disorders Version 1.14 Component of the following Super Panels: Hereditary Neuropathy_CMT_IsolatedAndComplex Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Literature Phenotypes Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome OMIM 614575 Tags STR
Green CANVAS_ACAGG STR in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome fasciculations elevated serum creatine kinase levels denervation
Green CANVAS STR in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575
Green CANVAS STR in Ataxia - adult onset Level 2: Neurology and neurodevelopmental disorders Version 1.16 Component of the following Super Panels: Ataxia_Superpanel Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575 Tags STR
Amber CANVAS_ACAGG STR in Ataxia - adult onset Level 2: Neurology and neurodevelopmental disorders Version 1.16 Component of the following Super Panels: Ataxia_Superpanel Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome fasciculations elevated serum creatine kinase levels denervation
Green CANVAS STR in Hereditary Neuropathy - complex Level 2: Neurology and neurodevelopmental disorders Version 1.14 Component of the following Super Panels: Hereditary Neuropathy_CMT_IsolatedAndComplex Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575 Tags STR
Amber CANVAS_ACAGG STR in Hereditary Neuropathy - complex Level 2: Neurology and neurodevelopmental disorders Version 1.14 Component of the following Super Panels: Hereditary Neuropathy_CMT_IsolatedAndComplex Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome fasciculations elevated serum creatine kinase levels denervation
Green CANVAS STR in Repeat Disorders Version 0.167	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575 Tags adult-onset
Amber CANVAS_ACAGG STR in Repeat Disorders Version 0.167	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome fasciculations elevated serum creatine kinase levels denervation Tags adult-onset