PanelApp
  1. Genes and Genomic Entities
  2. TMEM107

TMEM107

transmembrane protein 107
OMIM: 616183, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green TMEM107 in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.94

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Victorian Clinical Genetics Services
Phenotypes
  • Meckel syndrome 13 (MIM#617562)
  • Orofaciodigital syndrome XVI (MIM#617563)
  • Joubert syndrome 29 617562

Amber TMEM107 in Joubert syndrome and other neurological ciliopathies


Level 2: Neurology and neurodevelopmental disorders
Version 1.31

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Meckel syndrome 13 (MIM#617562)
  • Orofaciodigital syndrome XVI (MIM#617563)
  • Joubert syndrome 29, MIM# 617562

Green TMEM107 in Mendeliome


Version 1.3512

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Victorian Clinical Genetics Services
Phenotypes
  • Meckel syndrome 13 (MIM#617562)
  • Orofaciodigital syndrome XVI (MIM#617563)
  • Joubert syndrome 29, MIM# 617562

Green TMEM107 in Polydactyly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.296

Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Meckel syndrome 13 MIM#617562
    • Orofaciodigital syndrome XVI MIM#617563

    Amber TMEM107 in Renal Ciliopathies and Nephronophthisis


    Level 2: Renal and urinary tract disorders
    Version 1.45

    Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Cystic Disease_SuperPanel

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert Review
    • KidGen_CilioNephronop v38.1.0
    Phenotypes
    • Meckel syndrome 13 (MIM#617562)
    • Orofaciodigital syndrome XVI (MIM#617563)

    Amber TMEM107 in Syndromic Retinopathy


    Level 2: Ophthalmological disorders
    Version 0.234

    Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    • Expert Review Green
    • Expert Review
    • Victorian Clinical Genetics Services
    Phenotypes
    • Joubert syndrome 29 MIM#617562
    • Orofaciodigital syndrome XVI MIM#617563

    Green TMEM107 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Orofaciodigital syndrome XVI, 617563 (3), Autosomal recessive

    Green TMEM107 in Fetal anomalies


    Version 1.465

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Expert Review
    • KidGen_CilioNephronop v38.1.0
    Phenotypes
    • Joubert syndrome 29, OMIM:617562
    • Orofaciodigital syndrome 16, MONDO:0033045
    • Meckel syndrome 13, MONDO:0033044
    • Orofaciodigital syndrome XVI, OMIM:617563
    • Meckel syndrome 13, OMIM:617562

    Green TMEM107 in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Orofaciodigital syndrome XVI, MIM#617563