NIN

ninein
OMIM: 608684, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Red NIN in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Seckel syndrome 7, MIM#614851

Red NIN in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.301

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Seckel syndrome 7, MIM#614851

Red NIN in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 0.540

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Seckel syndrome 7, MIM#614851

Red NIN in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.83

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Seckel syndrome 7, MIM#614851

Red NIN in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.305

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Seckel syndrome 7 614851

Red NIN in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Seckel syndrome

Red NIN in BabyScreen+ newborn screening


Level 2: Screening
Version 1.116

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Seckel syndrome