Microcephaly
Gene: LHX2
LHX2 (LIM homeobox 2)
EnsemblGeneIds (GRCh38): ENSG00000106689
EnsemblGeneIds (GRCh37): ENSG00000106689
OMIM: 603759, Gene2Phenotype
LHX2 is in 3 panels
EnsemblGeneIds (GRCh38): ENSG00000106689
EnsemblGeneIds (GRCh37): ENSG00000106689
OMIM: 603759, Gene2Phenotype
LHX2 is in 3 panels
1 review
Manny Jacobs (Victorian Clinical Genetics Services)
PMID: 37057675
Case series of 19 individuals across 18 families.
1 whole gene deletion, 7 missense, 10 predicted LoF variants.
Proposed loss-of-function mechanism.
Variable phenotype, with variable intellectual disability and behavioural (ASD/ADHD) features common.
Microcephaly in 7 individuals.
1 variant inherited from a mildly affected parent, all other variants with parental genotype available shown to be de novo.
Sources: LiteratureCreated: 4 May 2023, 2:58 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodevelopmental disorder (MONDO: 0700092)
Publications
- PMID: 37057675
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Neurodevelopmental disorder (MONDO: 0700092)
- OMIM
- 603759
- Clinvar variants
- Variants in LHX2
- Penetrance
- None
- Publications
-
- PMID: 37057675
- Panels with this gene
History Filter Activity
4 May 2023, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: lhx2 has been classified as Green List (High Evidence).
4 May 2023, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: lhx2 has been classified as Green List (High Evidence).
4 May 2023, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Manny Jacobs (Victorian Clinical Genetics Services)gene: LHX2 was added gene: LHX2 was added to Microcephaly. Sources: Literature Mode of inheritance for gene: LHX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LHX2 were set to PMID: 37057675 Phenotypes for gene: LHX2 were set to Neurodevelopmental disorder (MONDO: 0700092) Review for gene: LHX2 was set to GREEN