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| Fetal anomalies v0.2052 | LAMA1 | Zornitza Stark Marked gene: LAMA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2052 | LAMA1 | Zornitza Stark Gene: lama1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2052 | LAMA1 | Zornitza Stark Phenotypes for gene: LAMA1 were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION; CEREBELLAR DYSPLASIA WITH CYSTS WITH OR WITHOUT RETINAL DYSTROPHY to Poretti-Boltshauser syndrome, MIM# 615960 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2051 | LAMA1 | Zornitza Stark Publications for gene: LAMA1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2050 | LAMA1 |
Zornitza Stark changed review comment from: Four families with Poretti-Bolthauser syndrome identified in a cohort of 'unsolved' Joubert syndrome patients -- included due to phenotypic overlap. Sources: Literature; to: Cerebellar abnormalities. Four families with Poretti-Bolthauser syndrome identified in a cohort of 'unsolved' Joubert syndrome patients. Sources: Literature |
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| Fetal anomalies v0.0 | LAMA1 |
Zornitza Stark gene: LAMA1 was added gene: LAMA1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: LAMA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LAMA1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION; CEREBELLAR DYSPLASIA WITH CYSTS WITH OR WITHOUT RETINAL DYSTROPHY |
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