| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Motor Neurone Disease v1.17 | NEFH | Bryony Thompson Marked gene: NEFH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v1.17 | NEFH | Bryony Thompson Gene: nefh has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v1.17 | NEFH |
Bryony Thompson gene: NEFH was added gene: NEFH was added to Motor Neurone Disease. Sources: ClinGen Mode of inheritance for gene: NEFH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NEFH were set to amyotrophic lateral sclerosis MONDO:0004976 Review for gene: NEFH was set to RED Added comment: Limited gene-disease validity classification by ClinGen ALS spectrum disorders GCEP - 23/03/2023 https://search.clinicalgenome.org/CCID:005612 Sources: ClinGen |
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