Pituitary hormone deficiency
Gene: IFT172
IFT172 (intraflagellar transport 172)
EnsemblGeneIds (GRCh38): ENSG00000138002
EnsemblGeneIds (GRCh37): ENSG00000138002
OMIM: 607386, Gene2Phenotype
IFT172 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000138002
EnsemblGeneIds (GRCh37): ENSG00000138002
OMIM: 607386, Gene2Phenotype
IFT172 is in 17 panels
1 review
Eleanor Williams (Genomics England Curator)
PMID: 25664603 - Lucas-Herald et al 2015 - first reported case of a child with a mutation in IFT172 who presented with growth retardation in early childhood. He responded well to recombinant human growth hormone. He was found by WES to have compound heterozygous variants; a missense mutation, c.5179T>C (p.Cys1727Arg), and a novel splice site mutation in intron 4, c.337–2A>C. The parents were heterozygotes.
A PubMed search did not find any other cases were growth hormone deficiency is reported along with IFT172 variants.Created: 17 Sep 2022, 4:14 p.m. | Last Modified: 17 Sep 2022, 4:14 p.m.
Panel Version: 2.45
Review on behalf of Professor Mehul Dattani, UCL GOS Institute of Child Health/Great Ormond Street Hospital for Children. Lucas-Herald AK, Kinning E, Iida A, Wang Z, Miyake N, Ikegawa S, McNeilly J, Ahmed SF.J Clin Endocrinol Metab. 2015 Apr;100(4):1221-4. doi: 10.1210/jc.2014-3852. Epub 2015 Feb 9.PMID:25664603Created: 14 Sep 2022, 4:44 p.m. | Last Modified: 14 Sep 2022, 4:44 p.m.
Panel Version: 2.15
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
RETINOPATHY, METAPHYSEAL DYSPLASIA
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert review
- Phenotypes
-
- retinopathy, metaphyseal dysplasia
- OMIM
- 607386
- Clinvar variants
- Variants in IFT172
- Penetrance
- None
- Publications
- Panels with this gene
-
- Ophthalmological ciliopathies
- Skeletal ciliopathies
- Skeletal dysplasia
- Clefting
- Monogenic short stature
- Intellectual disability
- Ductal plate malformation
- IUGR and IGF abnormalities
- Childhood onset dystonia, chorea or related movement disorder
- Renal ciliopathies
- DDG2P
- Retinal disorders
- Pituitary hormone deficiency
- Limb disorders
- Thoracic dystrophies
- Rare multisystem ciliopathy disorders
- Fetal anomalies
History Filter Activity
17 Sep 2022, Gel status: 1
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: IFT172 were changed from to retinopathy, metaphyseal dysplasia
17 Sep 2022, Gel status: 1
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: IFT172 were set to
17 Sep 2022, Gel status: 1
Set mode of inheritance
Eleanor Williams (Genomics England Curator)Mode of inheritance for gene: IFT172 was changed from to BIALLELIC, autosomal or pseudoautosomal
14 Sep 2022, Gel status: 1
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: IFT172 was added gene: IFT172 was added to Pituitary hormone deficiency. Sources: Expert review Mode of inheritance for gene: IFT172 was set to