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Intellectual disability syndromic and non-syndromic

Gene: LHX3

Red List (low evidence)

LHX3 (LIM homeobox 3)
EnsemblGeneIds (GRCh38): ENSG00000107187
EnsemblGeneIds (GRCh37): ENSG00000107187
OMIM: 600577, Gene2Phenotype
LHX3 is in 14 panels

1 review

Crystle Lee (Victorian Clinical Genetics Services)

Red List (low evidence)

ID is a secondary feature of this phenotype if hypothyroidism untreated.

PMID: 28302169: 3 sibs from 2 families reported.

PMID: 17327381: 4 families reported. ID reported in at least one patient.

Rated as Red by Zornitza in GEL ID panel.
Created: 15 Jul 2020, 1:38 a.m. | Last Modified: 15 Jul 2020, 1:38 a.m.
Panel Version: 0.2766

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pituitary hormone deficiency, combined, 3 (MIM#221750)

Publications

History Filter Activity

15 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lhx3 has been classified as Red List (Low Evidence).

15 Jul 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LHX3 were changed from to Pituitary hormone deficiency, combined, 3 (MIM#221750)

15 Jul 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LHX3 were set to

15 Jul 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: LHX3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

15 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lhx3 has been classified as Red List (Low Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LHX3 was added gene: LHX3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: LHX3 was set to Unknown