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Hereditary neuropathy or pain disorder v6.64 DSTYK Sarah Leigh Added comment: Comment on phenotypes: Monoallelic DSTYK variants are associated with Congenital anomalies of kidney and urinary tract 1 (OMIM:610805).
Hereditary neuropathy or pain disorder v6.64 DSTYK Sarah Leigh Phenotypes for gene: DSTYK were changed from Spastic paraplegia 23, autosomal recessive, OMIM:270750; hereditary spastic paraplegia 23, MONDO:0010046 to Spastic paraplegia 23, autosomal recessive, OMIM:270750; hereditary spastic paraplegia 23, MONDO:0010046
Hereditary neuropathy or pain disorder v6.63 DSTYK Sarah Leigh Tag founder-effect tag was added to gene: DSTYK.
Hereditary neuropathy or pain disorder v6.63 DSTYK Sarah Leigh Classified gene: DSTYK as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v6.63 DSTYK Sarah Leigh Gene: dstyk has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v6.62 DSTYK Sarah Leigh edited their review of gene: DSTYK: Added comment: Two DSTYK variants (as compound heterozygotes) have been associated with Spastic paraplegia 23, autosomal recessive (OMIM:270750) in 3 unrelated families of Middle Eastern origin. This combination of variants in the reported families was revealed to be founder effect by haplotype analysis (PMID: 28157540).; Changed rating: AMBER; Changed publications to: 28157540; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v6.62 DSTYK Sarah Leigh Added comment: Comment on phenotypes: Childhood onset spastic paraplegia, prominent skin pigment abnormalities (vitiligo, hyperpigmentation, diffuse lentigines), premature greying of hair, sensory predominant axonal neuropathy (mild).
Hereditary neuropathy or pain disorder v6.62 DSTYK Sarah Leigh Phenotypes for gene: DSTYK were changed from Childhood onset spastic paraplegia, prominent skin pigment abnormalities (vitiligo, hyperpigmentation, diffuse lentigines), premature greying of hair, sensory predominant axonal neuropathy (mild).; Spastic paraplegia 23, 270750 to Spastic paraplegia 23, autosomal recessive, OMIM:270750; hereditary spastic paraplegia 23, MONDO:0010046
Hereditary neuropathy or pain disorder v5.19 DSTYK Alexander Rossor reviewed gene: DSTYK: Rating: AMBER; Mode of pathogenicity: None; Publications: 28157540; Phenotypes: spastic paraplegia, peripheral neuropathy, grey hair; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.19 DSTYK Alexander Rossor Deleted their review
Hereditary neuropathy or pain disorder v0.1 DSTYK Ellen McDonagh gene: DSTYK was added
gene: DSTYK was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: DSTYK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DSTYK were set to Childhood onset spastic paraplegia, prominent skin pigment abnormalities (vitiligo, hyperpigmentation, diffuse lentigines), premature greying of hair, sensory predominant axonal neuropathy (mild).; Spastic paraplegia 23, 270750