Skeletal dysplasia
Gene: TMEM216
TMEM216 (transmembrane protein 216)
EnsemblGeneIds (GRCh38): ENSG00000187049
EnsemblGeneIds (GRCh37): ENSG00000187049
OMIM: 613277, Gene2Phenotype
TMEM216 is in 19 panels
EnsemblGeneIds (GRCh38): ENSG00000187049
EnsemblGeneIds (GRCh37): ENSG00000187049
OMIM: 613277, Gene2Phenotype
TMEM216 is in 19 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
p.Arg73Leu is a founder Jewish variant. Multiple families reported with JBTS and with Meckel syndrome.Created: 16 Apr 2020, 7:57 a.m. | Last Modified: 27 Mar 2021, 2:31 a.m.
Panel Version: 0.6918
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 2, MIM# 608091; MONDO:0011963; Meckel syndrome 2, MIM# 603194; MONDO:0011296
Publications
Details
- Mode of Inheritance
- 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
- OMIM
- 613277
- Clinvar variants
- Variants in TMEM216
- Penetrance
- None
- Panels with this gene
-
- Joubert syndrome and other neurological ciliopathies
- Ciliopathies
- Mackenzie's Mission_Reproductive Carrier Screening
- Polydactyly
- Prepair 1000+
- Cholestasis
- BabyScreen+ newborn screening
- Renal Ciliopathies and Nephronophthisis
- Intellectual disability syndromic and non-syndromic
- Retinitis pigmentosa_Autosomal Recessive/X-linked
- Regression
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Syndromic Retinopathy
- Prepair 500+
- Polymicrogyria and Schizencephaly
- Ataxia - paediatric
History Filter Activity
17 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TMEM216 was added gene: TMEM216 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: TMEM216 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM216 were set to Meckel syndrome 2 603194; Joubert syndrome 2 608091