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Callosome

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

Alison Yeung (Victorian Clinical Genetics Services)

Red List (low evidence)

Comment when marking as ready: Gene not associated with absence of corpus callosum.
Created: 28 Mar 2022, 2:24 a.m. | Last Modified: 28 Mar 2022, 2:24 a.m.
Panel Version: 0.428
Causes anterior pituitary hypoplasia and hormone deficiency, deafness, short neck with restricted movements. Absence of corpus callosum not a typical feature.
Created: 28 Mar 2022, 2:21 a.m. | Last Modified: 28 Mar 2022, 2:21 a.m.
Panel Version: 0.425

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

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

History Filter Activity

28 Mar 2022, Gel status: 1

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

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

28 Mar 2022, Gel status: 1

Set Phenotypes

Alison Yeung (Victorian Clinical Genetics Services)

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

28 Mar 2022, Gel status: 1

Set mode of inheritance

Alison Yeung (Victorian Clinical Genetics Services)

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

28 Mar 2022, Gel status: 1

Set Phenotypes

Alison Yeung (Victorian Clinical Genetics Services)

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

28 Mar 2022, Gel status: 1

Set mode of inheritance

Alison Yeung (Victorian Clinical Genetics Services)

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

28 Mar 2022, Gel status: 1

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

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

17 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 Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LHX3 was set to Unknown