Callosome
Gene: LHX3EnsemblGeneIds (GRCh38): ENSG00000107187
EnsemblGeneIds (GRCh37): ENSG00000107187
OMIM: 600577, Gene2Phenotype
LHX3 is in 14 panels
1 review
Alison Yeung (Victorian Clinical Genetics Services)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Phenotypes
-
- Pituitary hormone deficiency, combined, 3, MIM# 221750
- OMIM
- 600577
- Clinvar variants
- Variants in LHX3
- Penetrance
- None
- Panels with this gene
-
- Deafness_IsolatedAndComplex
- Congenital hypothyroidism
- Mackenzie's Mission_Reproductive Carrier Screening
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Mendeliome
- BabyScreen+ newborn screening
- Prepair 500+
- Pituitary hormone deficiency
- Intellectual disability syndromic and non-syndromic
- Callosome
- Differences of Sex Development
- Growth failure
History Filter Activity
Entity classified by Genomics England curator
Alison Yeung (Victorian Clinical Genetics Services)Gene: lhx3 has been classified as Red List (Low Evidence).
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
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
Set Phenotypes
Alison Yeung (Victorian Clinical Genetics Services)Phenotypes for gene: LHX3 were changed from to Pituitary hormone deficiency, combined, 3, MIM# 221750
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
Entity classified by Genomics England curator
Alison Yeung (Victorian Clinical Genetics Services)Gene: lhx3 has been classified as Red List (Low Evidence).
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