FOXE1

forkhead box E1
OMIM: 602617, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green FOXE1 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bamforth-Lazarus syndrome, MIM# 241850
  • MONDO:0009437

Green FOXE1 in Pierre Robin Sequence


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.47

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

Red FOXE1 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

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

Green FOXE1 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 Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bamforth-Lazarus syndrome, OMIM #241850

Green FOXE1 in Incidentalome_PREGEN_DRAFT


Version 0.43

review Unknown
Sources
  • NSW Health Pathology
  • Expert Review Green

Green FOXE1 in Congenital hypothyroidism

Level 3: Thyroid disorders
Level 2: Endocrine disorders
Version 0.43

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Bamforth Lazarus syndrome, MIM#241850 (hypothyroidism)
  • Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate, 241850

Green FOXE1 in Choanal atresia


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.5

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Literature
Phenotypes
  • Bamforth-Lazarus syndrome, MIM# 241850
  • MONDO:0009437

Green FOXE1 in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Bamforth-Lazarus syndrome, MIM# 241850
  • MONDO:0009437

Green FOXE1 in BabyScreen+ newborn screening


Level 2: Screening
Version 1.113

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category C gene
Phenotypes
  • Bamforth-Lazarus syndrome MIM# 241850
Tags
  • treatable
  • endocrine
  • deafness