Activity
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7 actions
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| Prepair 1000+ v1.1219 | NSDHL | Zornitza Stark Marked gene: NSDHL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1219 | NSDHL | Zornitza Stark Gene: nsdhl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1219 | NSDHL | Zornitza Stark Phenotypes for gene: NSDHL were changed from CK syndrome, 300831 (3) to CK syndrome, MIM#300831 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1218 | NSDHL | Zornitza Stark Publications for gene: NSDHL were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.978 | NSDHL |
Kate Scarff changed review comment from: X-linked recessive disorder characterized by mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus. 25 affected males from three unrelated families have been reported. Heterozygous females are typically unaffected; however, some may experience mild behavior problems such as irritability or aggression. The NSDHL pathogenic variants c.455G>A, c.696_698delGAA, and c.1098dupT have been consistently associated with CK syndrome. Other phenotype associated with this gene is CHILD syndrome (MIM #308050) not reportable for Prepair1000 as is X-linked dominant, only affects females, lethal before birth in hemizygous males.; to: X-linked recessive disorder characterized by mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus. 25 affected males from three unrelated families have been reported. Heterozygous females are typically unaffected; however, some may experience mild behavior problems such as irritability or aggression. The NSDHL pathogenic variants c.455G>A, c.696_698delGAA, and c.1098dupT have been consistently associated with CK syndrome. Other phenotype associated with this gene is CHILD syndrome (MIM #308050) not reportable for Prepair1000 as is X-linked dominant, only affects females, lethal before birth in hemizygous males. See also GeneReviews PMID: 21290788 |
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| Prepair 1000+ v1.978 | NSDHL | Kate Scarff reviewed gene: NSDHL: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19842190, 21129721, 34091503, 23042573; Phenotypes: CK syndrome, MIM #300831; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.0 | NSDHL |
Zornitza Stark gene: NSDHL was added gene: NSDHL was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NSDHL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: NSDHL were set to CK syndrome, 300831 (3) |
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