VAC14

Vac14, PIKFYVE complex component
OMIM: 604632, ClinGen, DECIPHER

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green VAC14 in Early-onset Parkinson disease Level 2: Neurology and neurodevelopmental disorders Version 2.10 Component of the following Super Panels: Neurodegenerative disease - adult onset Progressive Neurological Conditions Tremors_Superpanel	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Striatonigral degeneration, childhood-onset, MIM# 617054 Dystonia Parkinsonism
Green VAC14 in Mendeliome Version 1.2302	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Striatonigral degeneration, childhood-onset, MIM#617054
Green VAC14 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.572	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Striatonigral degeneration, childhood-onset, MIM#617054
Red VAC14 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.302	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Victorian Clinical Genetics Services Phenotypes Yunis-Varon syndrome (YVS) (includes multiple skeletal anomalies)
Green VAC14 in Dystonia - complex Level 2: Neurology and neurodevelopmental disorders Version 0.272 Component of the following Super Panels: Dystonia_Superpanel Progressive Neurological Conditions Tremors_Superpanel	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Striatonigral degeneration, childhood-onset 617054
No list VAC14 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Phenotypes Striatonigral degeneration, childhood-onset, MIM#617054