Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Neonatal diabetes v2.7 | EIF2S3 | Ivone Leong Phenotypes for gene: EIF2S3 were changed from diabetes; intellectual disability; microcephaly; epilepsy; hypogonadism; hypogenitalism; central obesity; MEHMO syndrome (X-linked NDM and microcephaly),300148 to diabetes mellitus (disease), MONDO:0005015; MEHMO syndrome, OMIM:300148 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Neonatal diabetes v1.29 | EIF2S3 | Ivone Leong Phenotypes for gene: EIF2S3 were changed from diabetes; intellectual disability; microcephaly; epilepsy; hypogonadism; hypogenitalism; central obesity to diabetes; intellectual disability; microcephaly; epilepsy; hypogonadism; hypogenitalism; central obesity; MEHMO syndrome (X-linked NDM and microcephaly),300148 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Neonatal diabetes v1.24 | EIF2S3 | Ivone Leong Classified gene: EIF2S3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Neonatal diabetes v1.24 | EIF2S3 | Ivone Leong Added comment: Comment on list classification: Promoted from red to green as recommended by Jayne Houghton (South West GLH). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Neonatal diabetes v1.24 | EIF2S3 | Ivone Leong Gene: eif2s3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Neonatal diabetes v1.23 | EIF2S3 | Ivone Leong Phenotypes for gene: EIF2S3 were changed from to diabetes; intellectual disability; microcephaly; epilepsy; hypogonadism; hypogenitalism; central obesity | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Neonatal diabetes v1.22 | EIF2S3 | Ivone Leong Publications for gene: EIF2S3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Neonatal diabetes v1.21 | EIF2S3 | Ivone Leong Mode of inheritance for gene: EIF2S3 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Neonatal diabetes v1.13 | EIF2S3 | Jayne Houghton reviewed gene: EIF2S3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28055140; Phenotypes: diabetes, intellectual disability, microcephaly, epilepsy, hypogonadism, hypogenitalism, central obesity; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Neonatal diabetes v1.13 | EIF2S3 | Ivone Leong reviewed gene: EIF2S3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Neonatal diabetes v1.12 | EIF2S3 |
Ivone Leong gene: EIF2S3 was added gene: EIF2S3 was added to Diabetes - neonatal onset. Sources: NHS GMS Mode of inheritance for gene: EIF2S3 was set to |