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| Mendeliome v1.768 | PKDCC | Zornitza Stark Phenotypes for gene: PKDCC were changed from Dysmorphism; shortening of extremities to Rhizomelic limb shortening with dysmorphic features, MIM# 618821 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.767 | PKDCC | Zornitza Stark Publications for gene: PKDCC were set to PMID:30478137; 19097194 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.766 | PKDCC | Zornitza Stark Classified gene: PKDCC as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.766 | PKDCC | Zornitza Stark Gene: pkdcc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.765 | PKDCC | Zornitza Stark reviewed gene: PKDCC: Rating: GREEN; Mode of pathogenicity: None; Publications: 36896672; Phenotypes: Rhizomelic limb shortening with dysmorphic features 618821; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2440 | PKDCC |
Paul De Fazio changed review comment from: 2 ("apparently") unrelated individuals with homozygous LoF (1x nonsense, 1x canonical splice) variants reported. Their phenotype is similar to knockout mice. Sources: Literature; to: 2 apparently unrelated individuals with homozygous LoF (1x nonsense, 1x canonical splice) variants reported. Their phenotype is similar to knockout mice. Sources: Literature |
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| Mendeliome v0.2376 | PKDCC | Alison Yeung Marked gene: PKDCC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2376 | PKDCC | Alison Yeung Gene: pkdcc has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2376 | PKDCC | Alison Yeung Classified gene: PKDCC as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2376 | PKDCC |
Alison Yeung Added comment: Comment on list classification: Two unrelated consanguineous families reported with different homozygous variants Pre-existing mouse model has similar phenotype Needs more functional evidence or further reported families |
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| Mendeliome v0.2376 | PKDCC | Alison Yeung Gene: pkdcc has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2361 | PKDCC |
Paul De Fazio gene: PKDCC was added gene: PKDCC was added to Mendeliome. Sources: Literature Mode of inheritance for gene: PKDCC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PKDCC were set to PMID:30478137; 19097194 Phenotypes for gene: PKDCC were set to Dysmorphism; shortening of extremities Review for gene: PKDCC was set to AMBER gene: PKDCC was marked as current diagnostic Added comment: 2 ("apparently") unrelated individuals with homozygous LoF (1x nonsense, 1x canonical splice) variants reported. Their phenotype is similar to knockout mice. Sources: Literature |
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