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| Fetal anomalies v0.3877 | SRD5A2 | Zornitza Stark Marked gene: SRD5A2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3877 | SRD5A2 | Zornitza Stark Gene: srd5a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3877 | SRD5A2 | Zornitza Stark Publications for gene: SRD5A2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3869 | SRD5A2 | Daniel Flanagan reviewed gene: SRD5A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 12843198, 11869378, 18350250, 1944596; Phenotypes: Pseudovaginal perineoscrotal hypospadias (MIM#264600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3464 | HOXB6 |
Krithika Murali gene: HOXB6 was added gene: HOXB6 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: HOXB6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HOXB6 were set to 17003840; 22371315 Phenotypes for gene: HOXB6 were set to Hypospadias Review for gene: HOXB6 was set to RED Added comment: PMID 17003840 Chen et al 2007 report 2 babies with hypospadias and heterozygous HOXB6 variants. Cohort of 90 unrelated Chinese patients with hypospadias and 380 controls. x1 patient - heterozygous, maternally inherited HOXB6 c.124C>A p.P42T in a child with scrotal, micropenis, bifid scrotum, cryptorchidism. Baby also has maternally inherited SRD5A2 and de novo MID1 variant. The HOXB6 variant is absent from gnomad v2, v3, not previously reported in ClinVar, minor GS change (38), moderately conserved (change in non-placental mammals), not in a region of missense constraint. x1 patient - penile hypospadias, heterozygous HOXB6 c.367T>C p.C123R. No segregation information. 5 hets (East Asian, gnomad v2), 2 hets (East Asian, gnomad v3). GS 180, conserved in mammals (changed in birds), not in a region of missense constraint, not previously reported in ClinVar, predicted to escape NMD. x2 patients with hypospadias from a single study, variants of uncertain significance. Sources: Literature |
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| Fetal anomalies v0.0 | SRD5A2 |
Zornitza Stark gene: SRD5A2 was added gene: SRD5A2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: SRD5A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SRD5A2 were set to Pseudovaginal perineoscrotal hypospadias 264600 |
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