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| Hereditary Neuropathy_CMT - isolated v1.17 | NRG1 | Zornitza Stark Marked gene: NRG1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v1.17 | NRG1 | Zornitza Stark Gene: nrg1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v1.17 | NRG1 |
Zornitza Stark gene: NRG1 was added gene: NRG1 was added to Hereditary Neuropathy_CMT - isolated. Sources: Expert Review Mode of inheritance for gene: NRG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NRG1 were set to 35485770 Phenotypes for gene: NRG1 were set to Peripheral neuropathy MONDO:0005244 Review for gene: NRG1 was set to RED Added comment: 1 female with consanguineous parents with distal muscle weakness starting age 20, progressively worsening, described as a peripheral neuropathy. Has a homozygous missense, 23 hets in gnomad. Proband has a sister who is also mildly affected, cramps and numbness in legs and feet. She is also homozygous for the variant. All 8 healthy family members that were tested were either only het or were hom for the WT allele. 13 other hom variants were identified in the proband, 11 were ruled out based on homs in gnomad, genes associated with off phenotype conditions, or non-segregation within the family. 2 variants in ZFHX4 and DMTN did cosegregate with disease. These 2 gene have limited reports/functional studies for off phenotype conditions so the NRG1 variant was thought to be the best match. In a homozygous null NGR1 zebrafish, the variant identified in this individual was not able to rescue the phenotype compared to WT. Sources: Expert Review |
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