PanelApp
  1. Genes and Genomic Entities
  2. TMEM216

TMEM216

transmembrane protein 216
OMIM: 613277, Gene2Phenotype

19 panels

Panel Reviews Mode of inheritance Details
19 panels

Red TMEM216 in Polymicrogyria and Schizencephaly


Level 2: Neurology and neurodevelopmental disorders
Version 0.201

Component of the following Super Panels:

  • Malformations of cortical development_Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Brain Malformations Flagship
    Phenotypes
    • Joubert syndrome 2 (MIM#608091)

    Red TMEM216 in Cholestasis


    Level 2: Gastroenterological disorders
    Version 1.5

    Component of the following Super Panels:

  • Liverome Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Meckel syndrome 2, MIM# 603194

    Green TMEM216 in Ciliopathies


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.94

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Joubert syndrome 2, MIM# 608091
    • MONDO:0011963
    • Meckel syndrome 2, MIM# 603194
    • MONDO:0011296
    Tags
    • founder
    • UTR

    Green TMEM216 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 Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Joubert syndrome 2, MIM# 608091
    • MONDO:0011963
    • Meckel syndrome 2, MIM# 603194
    • MONDO:0011296
    Tags
    • founder

    Green TMEM216 in Mendeliome


    Version 1.3512

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Joubert syndrome 2, MIM# 608091
    • MONDO:0011963
    • Meckel syndrome 2, MIM# 603194
    • MONDO:0011296
    • Retinitis pigmentosa, MONDO:0019200, TMEM216-related
    Tags
    • founder
    • UTR

    Green TMEM216 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
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green TMEM216 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

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • KidGen_CilioNephronop v38.1.0
    • Victorian Clinical Genetics Services
    Phenotypes
    • Joubert syndrome 2, MIM# 608091
    • Meckel syndrome 2, MIM# 603194

    Red TMEM216 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.594

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Joubert syndrome 2, MIM# 608091
    • MONDO:0011963
    • Meckel syndrome 2, MIM# 603194
    • MONDO:0011296

    Green TMEM216 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Joubert syndrome 2 MONDO:0011963

    Green TMEM216 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.346

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Expert Review Green
    • NHS GMS
    • Expert list
    • Emory Genetics Laboratory
    • Victorian Clinical Genetics Services
    Phenotypes
    • Meckel syndrome 2 603194
    • Joubert syndrome 2 608091

    Green TMEM216 in Ataxia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.60

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Joubert syndrome 2, MIM# 608091

    Green TMEM216 in Retinitis pigmentosa_Autosomal Recessive/X-linked


    Level 2: Ophthalmological disorders
    Version 0.182

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • Retinitis Pigmentosa Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Retinitis pigmentosa, MONDO:0019200, TMEM216-related
    Tags
    • UTR

    Green TMEM216 in Syndromic Retinopathy


    Level 2: Ophthalmological disorders
    Version 0.234

    Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • RetNet
    Phenotypes
    • Joubert syndrome 2, MIM# 608091

    Green TMEM216 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
    • Joubert syndrome 2, 608091 (3)

    Red TMEM216 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Meckel syndrome
    • Joubert syndrome

    Green TMEM216 in Fetal anomalies


    Version 1.465

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Joubert syndrome 2, MIM# 608091
    • Meckel syndrome 2, OMIM:603194
    • Meckel syndrome, type 2, MONDO:0011296

    Green TMEM216 in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Joubert syndrome 2, MIM#608091
    • Meckel syndrome 2, MIM#603194
    • Retinitis pigmentosa 98, MIM#620996
    • ciliopathy MONDO:0005308

    Red TMEM216 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Joubert syndrome
    • Meckel syndrome

    Green TMEM216 in Prepair 500+


    Level 2: Screening
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Joubert syndrome 2, MIM#608091
    • Meckel syndrome 2, MIM#603194
    • Retinitis pigmentosa 98, MIM#620996
    • ciliopathy MONDO:0005308