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BabyScreen+ newborn screening

Gene: TMEM216

Red List (low evidence)

TMEM216 (transmembrane protein 216)
EnsemblGeneIds (GRCh38): ENSG00000187049
EnsemblGeneIds (GRCh37): ENSG00000187049
OMIM: 613277, Gene2Phenotype
TMEM216 is in 18 panels

0 reviews

History Filter Activity

28 Jul 2024, Gel status: 1

Set Phenotypes

Tommy Li (Murdoch Children's Research Institute)

Added phenotypes Joubert syndrome; Meckel syndrome for gene: TMEM216

18 Sep 2022, Gel status: 1

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 gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: TMEM216 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM216 were set to Joubert syndrome; Meckel syndrome