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| Fetal anomalies v0.1898 | TRPV4 | Zornitza Stark Phenotypes for gene: TRPV4 were changed from METATROPIC DYSPLASIA; SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE to Brachyolmia type 3, MIM# 113500; Metatropic dysplasia, MIM# 156530; SED, Maroteaux type, MIM# 184095; Spondylometaphyseal dysplasia, Kozlowski type, MIM# 184252 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1897 | TRPV4 | Zornitza Stark Mode of inheritance for gene: TRPV4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1869 | TRPV4 | Alison Yeung Marked gene: TRPV4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1869 | TRPV4 | Alison Yeung Gene: trpv4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1869 | TRPV4 | Alison Yeung reviewed gene: TRPV4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Brachyolmia type 3, MIM# 113500, Metatropic dysplasia, MIM# 156530, SED, Maroteaux type, MIM# 184095, Spondylometaphyseal dysplasia, Kozlowski type, MIM# 184252; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TRPV4 |
Zornitza Stark gene: TRPV4 was added gene: TRPV4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: TRPV4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TRPV4 were set to METATROPIC DYSPLASIA; SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE |
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