ALX1:Ensemblv90

ALX homeobox 1
OMIM: 601527, ClinGen, DECIPHER

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green ALX1 in Frontonasal dysplasia


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.3

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Frontonasal dysplasia 3, MIM#613456

Green ALX1 in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Frontonasal dysplasia 3, MIM#613456

Green ALX1 in Pierre Robin Sequence


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.57

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Amber ALX1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.508

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genetic Health Queensland
Phenotypes
  • Frontonasal dysplasia 3, MIM#613456

Green ALX1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.365

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • NHS GMS
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Frontonasal dysplasia 3 613456
  • Frontonasal dysplasia type 3 613456

Green ALX1 in Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.293

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Frontonasal dysplasia 3, MIM#613456
  • severe facial clefting

Green ALX1 in Fetal anomalies


Version 1.482

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Frontonasal dysplasia 3, MIM#613456

Green ALX1 in Frontonasal dysplasia


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Frontonasal dysplasia 3, MIM#613456

Green ALX1 in Pierre Robin Sequence


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

0 reviews Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services

Green ALX1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert list
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Frontonasal dysplasia 3 613456
  • Frontonasal dysplasia type 3 613456

Green ALX1 in Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Frontonasal dysplasia 3, MIM#613456
  • severe facial clefting