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Intellectual disability

Gene: HMGB3

Red List (low evidence)

HMGB3 (high mobility group box 3)
EnsemblGeneIds (GRCh38): ENSG00000029993
EnsemblGeneIds (GRCh37): ENSG00000029993
OMIM: 300193, Gene2Phenotype
HMGB3 is in 4 panels

1 review

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Possible disease gene in Developmental Disorders Genotype-Phenotype Database (DDG2P) for Colobomatous microphthalmia, microcephaly, intellectual disability, and short stature Microphthalmia, microcephaly, intellectual disability, and short stature that is associated with a mutation on the X chromosome in the HMGB3 gene (PMID: 24993872 ). Only reported in two unrelated cases. A Hispanic family with isolated X-linked colobomatous microphthalmia has been reported Lehman et al 2001 PMID:11391653 and an American family of European descent with syndromic X-linked colobomatous microphthalmia has been identified with a frameshift variant in HMGB3 Scott et al (2014) PMID: 24993872.
Created: 18 Dec 2017, 3:36 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Microphthalmia, syndromic 13, 300915; Intellectual disability

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
Phenotypes
  • Microphthalmia, syndromic 13, 300915
  • Intellectual disability
OMIM
300193
Clinvar variants
Variants in HMGB3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

5 Jan 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

HMGB3 was added to Intellectual disability panel. Sources: Expert Review Red

5 Jan 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

HMGB3 was created by Ellen McDonagh