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Intellectual disability

Gene: HMGB1

No list

HMGB1 (high mobility group box 1)
EnsemblGeneIds (GRCh38): ENSG00000189403
EnsemblGeneIds (GRCh37): ENSG00000189403
OMIM: 163905, Gene2Phenotype
HMGB1 is in 2 panels

2 reviews

Dmitrijs Rots (RadboudUMC)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Zornitza Stark (Australian Genomics)

Green List (high evidence)

13q12.3 microdeletion syndrome is a rare cause of syndromic ID. Previous studies identified four genes within the ~300 Kb minimal critical region including two candidate protein coding genes: KATNAL1 and HMGB1.

Uguen et al. (2021) report 6 patients with LOF variants involving HMGB1 with features similar to 13q12.3 microdeletion syndrome (i.e. developmental delay, language delay, microcephaly, obesity and dysmorphic features). In silico analyses suggest that HMGB1 is likely to be intolerant to LOF, and previous in vitro data are in line with the role of HMGB1 in neurodevelopment. They suggest that haploinsufficiency of the HMGB1 gene may play a critical role in the pathogenesis of the 13q12.3 microdeletion syndrome.
Sources: Literature
Created: 9 Oct 2021, 7:53 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developmental delay and microcephaly

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Developmental delay and microcephaly
OMIM
163905
Clinvar variants
Variants in HMGB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Oct 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: HMGB1 was added gene: HMGB1 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: HMGB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HMGB1 were set to 34164801 Phenotypes for gene: HMGB1 were set to Developmental delay and microcephaly Review for gene: HMGB1 was set to GREEN gene: HMGB1 was marked as current diagnostic