| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Fetal anomalies v0.816 | AIMP1 | Zornitza Stark Marked gene: AIMP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.816 | AIMP1 | Zornitza Stark Gene: aimp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.816 | AIMP1 | Zornitza Stark Phenotypes for gene: AIMP1 were changed from LEUKODYSTROPHY, HYPOMYELINATING, 3 to Leukodystrophy, hypomyelinating, 3, MIM# 260600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.815 | AIMP1 | Zornitza Stark Publications for gene: AIMP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.814 | AIMP1 | Zornitza Stark Classified gene: AIMP1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.814 | AIMP1 | Zornitza Stark Gene: aimp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.813 | AIMP1 | Zornitza Stark edited their review of gene: AIMP1: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.813 | AIMP1 |
Zornitza Stark changed review comment from: Autosomal recessive hypomyelinating leukodystrophy-3 (HLD3) is a severe neurologic disorder characterized by early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system. Abnormal nerve conduction demonstrated. More than 10 families reported. Note two families reported in PMID 26173967 primarily with ID phenotype without neurodegeneration/leukodystrophy, suggesting there is a spectrum of severity. Note both families had homozygous missense variants.; to: Autosomal recessive hypomyelinating leukodystrophy-3 (HLD3) is a severe neurologic disorder characterized by early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system. Abnormal nerve conduction demonstrated. More than 10 families reported. Note two families reported in PMID 26173967 primarily with ID phenotype without neurodegeneration/leukodystrophy, suggesting there is a spectrum of severity. Note both families had homozygous missense variants. Progressive disorder, typical onset is in the first few months of life, microcephaly and joint contractures are features. |
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| Fetal anomalies v0.813 | AIMP1 | Zornitza Stark edited their review of gene: AIMP1: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | AIMP1 |
Zornitza Stark gene: AIMP1 was added gene: AIMP1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: AIMP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AIMP1 were set to LEUKODYSTROPHY, HYPOMYELINATING, 3 |
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