HSD17B10

hydroxysteroid 17-beta dehydrogenase 10
OMIM: 300256, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green HSD17B10 in Fatty Acid Oxidation Defects Level 2: Metabolic disorders Version 1.14 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes HSD10 mitochondrial disease, MIM# 300438
Green HSD17B10 in Mendeliome Version 1.3512	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes HSD10 mitochondrial disease, MIM# 300438
Green HSD17B10 in Mitochondrial disease Level 2: Metabolic disorders Version 0.1085 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	1 review	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services
Green HSD17B10 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.594	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert Review Phenotypes HSD10 mitochondrial disease, MIM# 300438
Green HSD17B10 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genetic Health Queensland Phenotypes HSD10 mitochondrial disease MONDO:0010327
Green HSD17B10 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.110	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes HSD10 mitochondrial disease
Green HSD17B10 in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 0.207	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Phenotypes HSD10 mitochondrial disease, MIM# 300438 intellectual disability regression seizures cardiomyopathy (dilated or hypertrophic) choreoathetosis optic atrophy retinal degeneration
Green HSD17B10 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes 17-beta-hydroxysteroid dehydrogenase X deficiency
Amber HSD17B10 in Fetal anomalies Version 1.465	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Genomics England PanelApp Phenotypes HSD10 mitochondrial disease, MIM# 300438
Green HSD17B10 in Prepair 1000+ Level 2: Screening Version 2.14	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes HSD10 mitochondrial disease, MIM#300438
Red HSD17B10 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red BabySeq Category A gene Phenotypes HSD10 mitochondrial disease, MIM# 300438
Green HSD17B10 in Prepair 500+ Level 2: Screening Version 2.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes HSD10 mitochondrial disease, MIM#300438