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| Heterotaxy v0.95 | NPHP4 | Zornitza Stark Marked gene: NPHP4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Heterotaxy v0.95 | NPHP4 | Zornitza Stark Gene: nphp4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Heterotaxy v0.95 | NPHP4 | Zornitza Stark Mode of inheritance for gene: NPHP4 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Heterotaxy v0.95 | NPHP4 | Zornitza Stark Mode of inheritance for gene: NPHP4 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Heterotaxy v0.94 | NPHP4 | Zornitza Stark Classified gene: NPHP4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Heterotaxy v0.94 | NPHP4 | Zornitza Stark Gene: nphp4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Heterotaxy v0.75 | NPHP4 |
Crystle Lee gene: NPHP4 was added gene: NPHP4 was added to Heterotaxy. Sources: Expert Review Mode of inheritance for gene: NPHP4 was set to Unknown Publications for gene: NPHP4 were set to 22550138 Phenotypes for gene: NPHP4 were set to Pleiotropic Heart Malformations (PMID: 22550138) Review for gene: NPHP4 was set to AMBER Added comment: Single publication in 2012 reported biallelic variants in a consanguineous family and additional heterozygous variants in sporadic patients with cardiac laterality defects. Knockdown nphp4 expression in zebrafish caused laterality defects. PMID: 22550138; Frenh 2012: Hom missense reported in a consang family with with cardiac laterality defects. 9 additional het sporadic cases reported with features of heterotaxy. p.(Ala1110Val) reported in one patient with abdominal situs inversus but variant is present in gnomAD (1007 hets and 3 hom), another missense, p.(Pro541Leu), reported in patient with midline liver and asplenia (variant is present 228x in gnomAD). Most of the variants in the sporadic cases either many hets or present in homozygosity. Sources: Expert Review |
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