| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Motor Neurone Disease v1.38 | PCDHA9 | Bryony Thompson Marked gene: PCDHA9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v1.38 | PCDHA9 | Bryony Thompson Gene: pcdha9 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v1.38 | PCDHA9 | Bryony Thompson Classified gene: PCDHA9 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v1.38 | PCDHA9 | Bryony Thompson Gene: pcdha9 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v1.37 | PCDHA9 |
Bryony Thompson gene: PCDHA9 was added gene: PCDHA9 was added to Motor Neurone Disease. Sources: Literature Mode of inheritance for gene: PCDHA9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCDHA9 were set to 38467605 Phenotypes for gene: PCDHA9 were set to amyotrophic lateral sclerosis MONDO:0004976 Review for gene: PCDHA9 was set to AMBER Added comment: Three unrelated families (one consanguineous and 2 living in close proximity) carry a homozygous c.2099T>C (p.Leu700Pro) missense variant in the transmembrane domain of PCDHA9; detailed clinical data: age at onset 36‑42 yr, limb weakness, UMN/LMN signs, EMG abnormalities, disease duration <4 yr; the variant is rare (gnomAD East Asian MAF≈0.00022, no homozygotes) and absent in 392 ALS controls; functional studies (mouse knock‑in and deletion models, HEK293 protein‑stability assays) demonstrate loss‑of‑function effects supporting pathogenicity. Sources: Literature |
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