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| Ataxia and cerebellar anomalies - narrow panel v7.24 | ZFHX3_GGC | Sarah Leigh edited their review of STR: ZFHX3_GGC: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v7.24 | ZFHX3_GGC |
Sarah Leigh STR: ZFHX3_GGC was added STR: ZFHX3_GGC was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Literature STR, NGS Not Validated tags were added to STR: ZFHX3_GGC. Mode of inheritance for STR: ZFHX3_GGC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for STR: ZFHX3_GGC were set to Spinocerebellar ataxia 4, OMIM:600223 Review for STR: ZFHX3_GGC was set to AMBER Added comment: ZFHX3 transcribed from the reverse strand, which means that the repeated sequence is the reverse compliment of the forward strand sequence. ZFHX3_GGC is on https://gnomad.broadinstitute.org/short-tandem-repeats?dataset=gnomad_r3 ZFHX3_GGC is on https://stripy.org/database ZFHX3_GGC is not on DRAGON 4.02. The coordinates and pathogenic ranges of the sequence repeats were obtained from https://gnomad.broadinstitute.org/short-tandem-repeats?dataset=gnomad_r3 and were the same on https://stripy.org/database There is enough evidence for this STR to be green on this panel. This STR has not been approved by NHS STR working group and is not NGS Not Validated Sources: Literature |
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