PRDM12

PR/SET domain 12
OMIM: 616458, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green PRDM12 in Familial dysautonomia Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Neuropathy, hereditary sensory and autonomic, type VIII 616488
Green PRDM12 in Pain syndromes Level 3: Channelopathies Level 2: Neurology and neurodevelopmental disorders Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BRIDGE Study Tier 1 Gene Phenotypes HSAN VIII insensitivity to pain Hereditary sensory and autonomic neuropathy type VIII HSAN 8 Neuropathy, hereditary sensory and autonomic, type VIII, 616488
Red PRDM12 in Paroxysmal central nervous system disorders Version 1.10 Signed off v.1.2 on 27 Feb 2020	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Wessex and West Midlands GLH Phenotypes Neuropathy, hereditary sensory and autonomic, type VIII, 616488 Hereditary sensory and autonomic neuropathy type VIII HSAN 8
Red PRDM12 in Fetal anomalies Version 1.179 Signed off v.1.92 on 21 Aug 2020	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes HEREDITARY SENSORY & AUTONOMIC NEUROPATHY TYPE VIII
Green PRDM12 in DDG2P Version 2.18 Signed off v.2.2 on 13 Feb 2020 Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HEREDITARY SENSORY & AUTONOMIC NEUROPATHY TYPE VIII 616488
Green PRDM12 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.383	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH Expert Review Green Expert Review Phenotypes hereditary sensory & autonomic neuropathy type VIII
Red PRDM12 in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 3.740 Signed off v.3.2 on 13 Feb 2020 Component of the following Super Panels: Hypotonic infant Paediatric disorders White matter disorders - childhood onset	review	Unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes NA
Green PRDM12 in Hereditary neuropathy NOT PMP22 copy number Version 1.21 Signed off v.1.2 on 27 Feb 2020	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review London North GLH NHS GMS NHS GMS London North GLH Phenotypes hereditary sensory & autonomic neuropathy type VIII
Green PRDM12 in Severe Paediatric Disorders Version 1.43	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Neuropathy, hereditary sensory and autonomic, type VIII, 616488