HMGB1

high mobility group box 1
OMIM: 163905, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Red HMGB1 in Limb disorders Version 4.23 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Mirror image foot polydactyly Tags gene-checked
Green HMGB1 in Severe microcephaly Level 3: DNA repair disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 4.88 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Literature Phenotypes Developmental delay and microcephaly Tags gene-checked
Green HMGB1 in DDG2P Version 3.90 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HMGB1-related brachyphalangy, polydactyly and tibial aplasia syndrome HMGB1-related intellectual disability Tags gene-checked
Green HMGB1 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.557 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes Developmental delay and microcephaly Tags gene-checked