| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Additional findings_Paediatric v0.203 | AP4E1 | Zornitza Stark Marked gene: AP4E1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.203 | AP4E1 | Zornitza Stark Gene: ap4e1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.203 | AP4E1 | Zornitza Stark Classified gene: AP4E1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.203 | AP4E1 | Zornitza Stark Gene: ap4e1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.202 | AP4E1 |
Zornitza Stark gene: AP4E1 was added gene: AP4E1 was added to Additional findings_Paediatric. Sources: Expert Review Mode of inheritance for gene: AP4E1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP4E1 were set to 20972249; 21620353; 21937992; 32979048; 23472171 Phenotypes for gene: AP4E1 were set to Spastic paraplegia 51, autosomal recessive, MIM# 613744 Review for gene: AP4E1 was set to GREEN Added comment: Spastic paraplegia-51 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe intellectual disability with poor or absent speech development. More than 5 unrelated families reported. Sources: Expert Review |
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