LHX4 Chromosome 1
LIM homeobox 4
Upload your DNA to see your personal genotypes for variants in LHX4.
What This Gene Does
This gene encodes a member of a large protein family which contains the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein is a transcription factor involved in the control of differentiation and development of the pituitary gland. Mutations in this gene cause combined pituitary hormone deficiency 4. [provided by RefSeq, Dec 2010]
Gene Info
Gene Group
LIM class homeoboxes
Locus Type
gene with protein product
Location
1q25.2
Ensembl
ENSG00000121454
Associated Conditions (4)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
Inborn genetic diseases
LHX4-related disorder
See cases
Key Variants
RS121912642
Conflicting classifications of pathogenicity
Short stature-pituitary and cerebellar defects-small sella turcica syndrome, Short stature-pituitary and cerebellar defects-small sella turcica syndrome
Health Risk
RS146664099
Conflicting classifications of pathogenicity
Short stature-pituitary and cerebellar defects-small sella turcica syndrome, Inborn genetic diseases, Short stature-pituitary and cerebellar defects-small sella turcica syndrome
Health Risk
RS201612374
Conflicting classifications of pathogenicity
Short stature-pituitary and cerebellar defects-small sella turcica syndrome, Inborn genetic diseases, Short stature-pituitary and cerebellar defects-small sella turcica syndrome
Health Risk
RS368995644
Conflicting classifications of pathogenicity
Short stature-pituitary and cerebellar defects-small sella turcica syndrome, Inborn genetic diseases, Short stature-pituitary and cerebellar defects-small sella turcica syndrome
Health Risk
RS375216188
Conflicting classifications of pathogenicity
Short stature-pituitary and cerebellar defects-small sella turcica syndrome, LHX4-related disorder, Inborn genetic diseases
Health Risk
RS751665904
Conflicting classifications of pathogenicity
Short stature-pituitary and cerebellar defects-small sella turcica syndrome, LHX4-related disorder, Short stature-pituitary and cerebellar defects-small sella turcica syndrome
Health Risk
RS765008063
Conflicting classifications of pathogenicity
Short stature-pituitary and cerebellar defects-small sella turcica syndrome, Short stature-pituitary and cerebellar defects-small sella turcica syndrome
Health Risk
RS771603042
Conflicting classifications of pathogenicity
Health Risk
RS2149256470
Likely pathogenic
See cases, See cases
Health Risk
RS2528185029
Likely pathogenic
Health Risk
RS774795540
Likely pathogenic
Health Risk
RS121912641
Pathogenic
Short stature-pituitary and cerebellar defects-small sella turcica syndrome, Short stature-pituitary and cerebellar defects-small sella turcica syndrome
Health Risk
All Variants (19)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121912642 | Health Risk | Conflicting classifications of pathogenicity | Short stature-pituitary and cerebellar defects-small sella turcica syndrome, Short stature-pituitary and cerebellar defects-small sella turcica syndrome |
| RS146664099 | Health Risk | Conflicting classifications of pathogenicity | Short stature-pituitary and cerebellar defects-small sella turcica syndrome, Inborn genetic diseases, Short stature-pituitary and cerebellar defects-small sella turcica syndrome |
| RS201612374 | Health Risk | Conflicting classifications of pathogenicity | Short stature-pituitary and cerebellar defects-small sella turcica syndrome, Inborn genetic diseases, Short stature-pituitary and cerebellar defects-small sella turcica syndrome |
| RS368995644 | Health Risk | Conflicting classifications of pathogenicity | Short stature-pituitary and cerebellar defects-small sella turcica syndrome, Inborn genetic diseases, Short stature-pituitary and cerebellar defects-small sella turcica syndrome |
| RS375216188 | Health Risk | Conflicting classifications of pathogenicity | Short stature-pituitary and cerebellar defects-small sella turcica syndrome, LHX4-related disorder, Inborn genetic diseases |
| RS751665904 | Health Risk | Conflicting classifications of pathogenicity | Short stature-pituitary and cerebellar defects-small sella turcica syndrome, LHX4-related disorder, Short stature-pituitary and cerebellar defects-small sella turcica syndrome |
| RS765008063 | Health Risk | Conflicting classifications of pathogenicity | Short stature-pituitary and cerebellar defects-small sella turcica syndrome, Short stature-pituitary and cerebellar defects-small sella turcica syndrome |
| RS771603042 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2149256470 | Health Risk | Likely pathogenic | See cases, See cases |
| RS2528185029 | Health Risk | Likely pathogenic | — |
| RS774795540 | Health Risk | Likely pathogenic | — |
| RS121912641 | Health Risk | Pathogenic | Short stature-pituitary and cerebellar defects-small sella turcica syndrome, Short stature-pituitary and cerebellar defects-small sella turcica syndrome |
| RS121912643 | Health Risk | Pathogenic | Short stature-pituitary and cerebellar defects-small sella turcica syndrome, Short stature-pituitary and cerebellar defects-small sella turcica syndrome |
| RS121912644 | Health Risk | Pathogenic | Short stature-pituitary and cerebellar defects-small sella turcica syndrome, Short stature-pituitary and cerebellar defects-small sella turcica syndrome |
| RS2149263256 | Health Risk | Pathogenic | — |
| RS587776662 | Health Risk | Pathogenic | Short stature-pituitary and cerebellar defects-small sella turcica syndrome, Short stature-pituitary and cerebellar defects-small sella turcica syndrome |
| RS748268631 | Health Risk | Pathogenic | Short stature-pituitary and cerebellar defects-small sella turcica syndrome, Short stature-pituitary and cerebellar defects-small sella turcica syndrome |
| RS786204780 | Health Risk | Pathogenic | Short stature-pituitary and cerebellar defects-small sella turcica syndrome, Short stature-pituitary and cerebellar defects-small sella turcica syndrome |
| RS886041420 | Health Risk | Pathogenic | — |