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| Albinism or congenital nystagmus v2.3 | SETX | Sarah Leigh Tag Q2_22_MOI was removed from gene: SETX. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v2.3 | SETX | Sarah Leigh commented on gene: SETX: The mode of inheritance of this gene has been updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v2.2 | SETX |
Sarah Leigh Source NHS GMS was added to SETX. Mode of inheritance for gene SETX was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal |
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| Albinism or congenital nystagmus v1.23 | SETX | Sarah Leigh changed review comment from: The Q2_22_MOI tag has been added to this gene as the MOI should be changed to BIALLELIC, autosomal or pseudoautosomal, as Spinocerebellar ataxia, autosomal recessive 1, OMIM:606002 is relevant phenotype for this panel.; to: The Q2_22_MOI tag has been added to this gene as the MOI should be changed to BIALLELIC, autosomal or pseudoautosomal, as Spinocerebellar ataxia, autosomal recessive 1, OMIM:606002 is the relevant phenotype for this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v1.23 | SETX | Sarah Leigh edited their review of gene: SETX: Added comment: The Q2_22_MOI tag has been added to this gene as the MOI should be changed to BIALLELIC, autosomal or pseudoautosomal, as Spinocerebellar ataxia, autosomal recessive 1, OMIM:606002 is relevant phenotype for this panel.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v1.23 | SETX | Sarah Leigh Tag Q2_22_MOI tag was added to gene: SETX. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v1.23 | SETX | Sarah Leigh Added comment: Comment on phenotypes: SETX are also associated with Amyotrophic lateral sclerosis 4, juvenile, OMIM:602433, but this phenotype is not relevant to the Albinism or congenital nystagmus panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v1.23 | SETX | Sarah Leigh Phenotypes for gene: SETX were changed from Amyotrophic lateral sclerosis 4, juvenile 602433 AD; Spinocerebellar ataxia, autosomal recessive 1 606002 AR to Spinocerebellar ataxia, autosomal recessive 1, OMIM:606002 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v0.14 | SETX |
Ivone Leong Added phenotypes Amyotrophic lateral sclerosis 4, juvenile 602433 AD; Spinocerebellar ataxia, autosomal recessive 1 606002 AR for gene: SETX Rating Changed from Green List (high evidence) to Green List (high evidence) |
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| Albinism or congenital nystagmus v0.13 | SETX | Ivone Leong Classified gene: SETX as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v0.13 | SETX | Ivone Leong Gene: setx has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v0.5 | SETX | Ivone Leong reviewed gene: SETX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Amyotrophic lateral sclerosis 4, juvenile 602433 AD, Spinocerebellar ataxia, autosomal recessive 1 606002 AR; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v0.4 | SETX |
Ivone Leong gene: SETX was added gene: SETX was added to Albinism or congenital nystagmus. Sources: Expert list Mode of inheritance for gene: SETX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SETX were set to Amyotrophic lateral sclerosis 4, juvenile 602433 AD; Spinocerebellar ataxia, autosomal recessive 1 606002 AR |
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