HMBS

hydroxymethylbilane synthase
OMIM: 609806, ClinGen, DECIPHER

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green HMBS in Mendeliome Version 1.3795	2 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Porphyria, acute intermittent, MIM#176000 Porphyria, acute intermittent, non-erythroid variant, MIM#176000 Encephalopathy, porphyria-related MIM#620704 Leukoencephalopathy, porphyria-related, MIM#620711
Green HMBS in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.600	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Encephalopathy, porphyria-related MIM#620704 Leukoencephalopathy, porphyria-related, MIM#620711
Green HMBS in Additional findings_Adult Level 2: Screening Version 1.130	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Porphyria, acute intermittent, MIM#176000
Green HMBS in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.497	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Encephalopathy, porphyria-related MIM#620704 Leukoencephalopathy, porphyria-related, MIM#620711
Green HMBS in Leukodystrophy - paediatric Level 2: Neurology and neurodevelopmental disorders Version 0.334 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukoencephalopathy, porphyria-related, MIM# 620711
Green HMBS in Hereditary Neuropathy - complex Level 2: Neurology and neurodevelopmental disorders Version 1.45 Component of the following Super Panels: Hereditary Neuropathy_CMT_IsolatedAndComplex Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Porphyria, acute intermittent MIM#176000 MONDO:0008294
Green HMBS in Haem degradation and bilirubin metabolism defects Level 2: Metabolic disorders Version 0.19 Component of the following Super Panels: Liverome Superpanel Metabolic Disorders Superpanel	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Porphyria, acute intermittent, 176000 Porphyria, acute intermittent, nonerythroid variant, 176000
Green HMBS in Rhabdomyolysis and Metabolic Myopathy Level 2: Neurology and neurodevelopmental disorders Version 1.32 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Porphyria, acute intermittent MIM#176000
Red HMBS in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category C gene Phenotypes Porphyria, acute intermittent
Red HMBS in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.141	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Porphyria, acute intermittent