HINT1

histidine triad nucleotide binding protein 1
OMIM: 601314, ClinGen, DECIPHER

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green HINT1 in Mendeliome Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neuromyotonia and axonal neuropathy, autosomal recessive, MIM# 137200 Gamstorp-Wohlfart syndrome, MONDO:0007646
Green HINT1 in Hereditary Neuropathy Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Expert Review Green Phenotypes Neuromyotonia and axonal neuropathy, autosomal recessive, MIM# 137200 Gamstorp-Wohlfart syndrome, MONDO:0007646 HMSN, dHMN/dSMA
Green HINT1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Neuromyotonia and axonal neuropathy, autosomal recessive, 137200 (3)
Green HINT1 in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Axonal neuropathy with neuromyotonia
Green HINT1 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Neuromyotonia and axonal neuropathy, autosomal recessive, MIM#137200
Red HINT1 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Neuromyotonia and axonal neuropathy, autosomal recessive, MIM# 137200 Gamstorp-Wohlfart syndrome, MONDO:0007646