STIL

STIL, centriolar assembly protein
OMIM: 181590, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Amber STIL in Holoprosencephaly and septo-optic dysplasia


Level 2: Neurology and neurodevelopmental disorders
Version 1.16

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephaly 7, primary, autosomal recessive, MIM# 612703

Green STIL in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephaly 7, primary, autosomal recessive, MIM# 612703
  • MONDO:0012989

Green STIL in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.269

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephaly 7, primary, autosomal recessive, MIM# 612703
  • MONDO:0012989

Green STIL in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 0.522

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green STIL in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Microcephaly 7, primary, autosomal recessive, MIM# 612703
  • MONDO:0012989

Green STIL in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.109

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microcephaly 7, primary, autosomal recessive, 612703 (3)

Red STIL in Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.252

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE
  • MCPH7

Green STIL in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Microcephaly 7, primary, autosomal recessive, MONDO:0012989
  • Microcephaly 7, primary, autosomal recessive, OMIM:612703

Green STIL in Prepair 1000+


Level 2: Screening
Version 1.9

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microcephaly 7, primary, autosomal recessive, 612703 (3)