IGHMBP2

immunoglobulin mu binding protein 2
OMIM: 600502, ClinGen, DECIPHER

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Red IGHMBP2 in Motor Neurone Disease Level 2: Neurology and neurodevelopmental disorders Version 1.27 Component of the following Super Panels: Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Neuronopathy, distal hereditary motor, type VI 604320
Green IGHMBP2 in Mendeliome Version 1.2302	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neuronopathy, distal hereditary motor, type VI, MIM# 604320 Charcot-Marie-Tooth disease, axonal, type 2S, MIM# 616155
Green IGHMBP2 in Hereditary Neuropathy_CMT - isolated Level 2: Neurology and neurodevelopmental disorders Version 1.51 Component of the following Super Panels: Hereditary Neuropathy_CMT_IsolatedAndComplex Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes HMSN, dHMN/dSMA Charcot-Marie-Tooth disease, axonal, type 2S 616155 Neuronopathy, distal hereditary motor, type VI, 604320
Green IGHMBP2 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Neuronopathy, distal hereditary motor, type VI, 604320 (3)
Green IGHMBP2 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Spinal muscular atrophy with respiratory distress
Green IGHMBP2 in Fetal anomalies Version 1.313	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Neuronopathy, distal hereditary motor, type VI MIM#604320 SMA with respiratory distress, SMARD1
Green IGHMBP2 in Prepair 1000+ Level 2: Screening Version 1.1566	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Neuronopathy, distal hereditary motor, autosomal recessive 1 MIM#604320 Charcot-Marie-Tooth disease, axonal, type 2S MIM#616155
Red IGHMBP2 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Neuronopathy, distal hereditary motor, type VI, MIM# 604320 Charcot-Marie-Tooth disease, axonal, type 2S, MIM# 616155
Green IGHMBP2 in Prepair 500+ Level 2: Screening Version 1.5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Neuronopathy, distal hereditary motor, type VI, 604320 (3)