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| Pituitary hormone deficiency v2.48 | IFT172 | Eleanor Williams Phenotypes for gene: IFT172 were changed from to retinopathy, metaphyseal dysplasia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.47 | IFT172 | Eleanor Williams Publications for gene: IFT172 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.46 | IFT172 | Eleanor Williams Mode of inheritance for gene: IFT172 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.45 | IFT172 |
Eleanor Williams commented on gene: IFT172: 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. |
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| Pituitary hormone deficiency v2.15 | IFT172 | Eleanor Williams reviewed gene: IFT172: Rating: ; Mode of pathogenicity: ; Publications: 25664603; Phenotypes: RETINOPATHY, METAPHYSEAL DYSPLASIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.14 | IFT172 |
Eleanor Williams gene: IFT172 was added gene: IFT172 was added to Pituitary hormone deficiency. Sources: Expert review Mode of inheritance for gene: IFT172 was set to |
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