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Amyotrophic lateral sclerosis/motor neuron disease v1.33 C9orf72_GGGGCC Arina Puzriakova Normal Number of Repeats for C9orf72_GGGGCC was changed from 30 to 24.
Pathogenic Number of Repeats for C9orf72_GGGGCC was changed from 30 to 200.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Amyotrophic lateral sclerosis/motor neuron disease v1.32 ATXN2_CAG Arina Puzriakova Normal Number of Repeats for ATXN2_CAG was changed from 31 to 32.
Pathogenic Number of Repeats for ATXN2_CAG was changed from 33 to 35.
Amyotrophic lateral sclerosis/motor neuron disease v1.30 AR_CAG Arina Puzriakova Normal Number of Repeats for AR_CAG was changed from 34 to 35.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Amyotrophic lateral sclerosis/motor neuron disease v1.27 AR_CAG Louise Daugherty GRCh38 position for AR_CAG was changed from 67545318-67545383 to 67545316-67545383.
Mode of inheritance for STR: AR_CAG was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Rating Changed from Green List (high evidence) to Green List (high evidence)
Amyotrophic lateral sclerosis/motor neuron disease v1.26 NOP56_GGCCTG Arianna Tucci Phenotypes for STR: NOP56_GGCCTG were changed from to Spinocerebellar ataxia 36 614153
Amyotrophic lateral sclerosis/motor neuron disease v1.25 NOP56_GGCCTG Arianna Tucci Repeated Sequence for NOP56_GGCCTG was changed from CAG to GGCCTG.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Amyotrophic lateral sclerosis/motor neuron disease v1.24 C9orf72_GGGGCC Arianna Tucci Pathogenic Number of Repeats for C9orf72_GGGGCC was changed from 60 to 30.