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| Fetal anomalies v0.928 | CLCN7 | Zornitza Stark Mode of inheritance for gene: CLCN7 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.584 | CLCN7 | Zornitza Stark Marked gene: CLCN7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.584 | CLCN7 | Zornitza Stark Gene: clcn7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.584 | CLCN7 | Zornitza Stark Phenotypes for gene: CLCN7 were changed from Hypopigmentation, organomegaly, and delayed myelination and development, OMIM:618541; Osteopetrosis, autosomal recessive 4, OMIM:611490; Osteopetrosis, autosomal dominant 2, OMIM:166600; CLCN7-RELATED OSTEOPETROSIS to Hypopigmentation, organomegaly, and delayed myelination and development, MIM# 618541; Osteopetrosis, autosomal recessive 4, MIM# 611490 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.583 | CLCN7 | Zornitza Stark Publications for gene: CLCN7 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.519 | CLCN7 | Zornitza Stark reviewed gene: CLCN7: Rating: GREEN; Mode of pathogenicity: None; Publications: 31155284; Phenotypes: Hypopigmentation, organomegaly, and delayed myelination and development, MIM# 618541, Osteopetrosis, autosomal recessive 4, MIM# 611490; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CLCN7 |
Zornitza Stark gene: CLCN7 was added gene: CLCN7 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: CLCN7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLCN7 were set to Hypopigmentation, organomegaly, and delayed myelination and development, OMIM:618541; Osteopetrosis, autosomal recessive 4, OMIM:611490; Osteopetrosis, autosomal dominant 2, OMIM:166600; CLCN7-RELATED OSTEOPETROSIS |
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