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 1.17	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 1.12	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 3.10 Latest signed off version: v3.0 (22 Mar 2023)	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 3.164 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes HEREDITARY SENSORY & AUTONOMIC NEUROPATHY TYPE VIII
Green PRDM12 in DDG2P Version 3.88 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Neuropathy, hereditary sensory and autonomic, type VIII OMIM:616488 congenital insensitivity to pain-hypohidrosis syndrome MONDO:0014662
Green PRDM12 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.477	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH Expert Review Green Expert Review Phenotypes Neuropathy, hereditary sensory and autonomic, type VIII OMIM:616488 congenital insensitivity to pain-hypohidrosis syndrome MONDO:0014662
Red PRDM12 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.544 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Neuropathy, hereditary sensory and autonomic, type VIII OMIM:616488 congenital insensitivity to pain-hypohidrosis syndrome MONDO:0014662
Green PRDM12 in Hereditary neuropathy or pain disorder Version 3.94 Latest signed off version: v3.24 (15 May 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review London North GLH NHS GMS NHS GMS London North GLH Phenotypes Neuropathy, hereditary sensory and autonomic, type VIII OMIM:616488 congenital insensitivity to pain-hypohidrosis syndrome MONDO:0014662
Green PRDM12 in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Neuropathy, hereditary sensory and autonomic, type VIII, 616488