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| Differences of Sex Development v0.97 | ERAL1 | Zornitza Stark Marked gene: ERAL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v0.97 | ERAL1 | Zornitza Stark Gene: eral1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v0.97 | ERAL1 | Zornitza Stark Classified gene: ERAL1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v0.97 | ERAL1 | Zornitza Stark Gene: eral1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v0.96 | ERAL1 | Zornitza Stark reviewed gene: ERAL1: Rating: RED; Mode of pathogenicity: None; Publications: 28449065; Phenotypes: Perrault syndrome 6, MIM# 617565; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v0.72 | ERAL1 |
Elena Savva gene: ERAL1 was added gene: ERAL1 was added to Disorders of Sex Differentiation. Sources: Expert list Mode of inheritance for gene: ERAL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERAL1 were set to PMID: 28449065 Phenotypes for gene: ERAL1 were set to Perrault syndrome 6 617565 Review for gene: ERAL1 was set to AMBER Added comment: PMID: 28449065 - 3 unrelated patient with perrault syndrome with the same founder missense (p.Asn236Ile). Symptoms included hearing loss, premature ovarian failure, primary amenorrhea Supported by functional analysis on patient cells, and transfected yeast reciprocating the phenotype. Sources: Expert list |
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