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| Genetic Epilepsy v0.1228 | AP4B1 | Zornitza Stark Marked gene: AP4B1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1228 | AP4B1 | Zornitza Stark Gene: ap4b1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1228 | AP4B1 | Zornitza Stark Classified gene: AP4B1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1228 | AP4B1 | Zornitza Stark Gene: ap4b1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1227 | AP4B1 |
Zornitza Stark gene: AP4B1 was added gene: AP4B1 was added to Genetic Epilepsy. Sources: Expert Review Mode of inheritance for gene: AP4B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP4B1 were set to 21620353; 22290197; 24700674; 24781758; 32166732 Phenotypes for gene: AP4B1 were set to Spastic paraplegia 47, autosomal recessive, MIM# 614066 Review for gene: AP4B1 was set to GREEN Added comment: Autosomal recessive neurodegenerative disorder characterised by neonatal hypotonia that progresses to hypertonia and spasticity and severe ID with poor or absent speech development. Microcephaly is an early, presenting feature. Seizures reported in at least 3 families. >5 unrelated families reported. Sources: Expert Review |
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