TMEM138:Ensemblv115

transmembrane protein 138
OMIM: 614459, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green TMEM138 in Ciliopathies


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
  • Joubert syndrome 16, MIM# 614465
  • MONDO:0013764

Green TMEM138 in Joubert syndrome and other neurological ciliopathies


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Joubert syndrome 16, MIM# 614465
  • MONDO:0013764

Green TMEM138 in Polydactyly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services

Green TMEM138 in Renal Ciliopathies and Nephronophthisis


Level 2: Renal and urinary tract disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • KidGen_CilioNephronop v38.1.0
  • Expert Review Green
Phenotypes
  • Joubert syndrome 16, MIM# 614465
  • MONDO:0013764

Green TMEM138 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Joubert syndrome 16, 614465 (3)

Green TMEM138 in Fetal anomalies


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Genomics England PanelApp
  • Expert Review Green
Phenotypes
  • Joubert syndrome 16, MIM# 614465
  • MONDO:0013764

Green TMEM138 in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Joubert syndrome 16, MIM#614465

Green TMEM138 in Prepair 500+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Joubert syndrome 16, MIM#614465