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| Fetal anomalies v0.4682 | AP4B1 | Alison Yeung reviewed gene: AP4B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 47, autosomal recessive, MIM# 614066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.949 | AP4B1 | Zornitza Stark Marked gene: AP4B1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.949 | AP4B1 | Zornitza Stark Gene: ap4b1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.949 | AP4B1 | Zornitza Stark Publications for gene: AP4B1 were set to 21620353; 22290197; 24700674; 24781758; 32979048; 32171285; 32166732; 31525725; 3152572521620353; 22290197; 24700674; 24781758; 32979048; 32171285; 32166732; 31525725; 31525725 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.948 | AP4B1 | Zornitza Stark Publications for gene: AP4B1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.947 | AP4B1 | Zornitza Stark Classified gene: AP4B1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.947 | AP4B1 | Zornitza Stark Gene: ap4b1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.946 | AP4B1 |
Zornitza Stark changed review comment from: Spastic paraplegia-47 is an autosomal recessive neurodegenerative disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe intellectual disability with poor or absent speech development. More than 10 unrelated families reported.; to: Spastic paraplegia-47 is an autosomal recessive neurodegenerative disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe intellectual disability with poor or absent speech development. More than 10 unrelated families reported. Microcephaly and ventriculomegaly are features. |
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| Fetal anomalies v0.0 | AP4B1 |
Zornitza Stark gene: AP4B1 was added gene: AP4B1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: AP4B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AP4B1 were set to Spastic paraplegia 47, autosomal recessive, OMIM:614066; Hereditary spastic paraplegia 47, MONDO:0013551 |
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