Neonatal cholestasis
Gene: TMEM216Comment when marking as ready: Based on reviewer's commentsCreated: 21 Aug 2018, 9:19 a.m.
Comment on list classification: Rating as Amber, in line with MKS1 on this panel which is also associated with Meckel syndromeCreated: 15 Aug 2018, 3:11 p.m.
Comment on phenotypes: Added OMIM phenotype of Meckel syndrome 2. Note this gene is also associated with Joubert syndrome 2 in OMIM but this phenotype is not relevant to the neonatal cholestasis panel.Created: 15 Aug 2018, 3:10 p.m.
TMEM216 is associated with Meckel syndrome 2 in OMIM with 3 unrelated cases reported. One of the features of this disorder is bile duct proliferation. However as Genomics Clinician has documented for MKS1 on this panel, although the liver anomalies associated with Meckel syndrome might be expected to result in cholestasis, this is a lethal condition which is unlikely to present with isolated cholestasis.Created: 15 Aug 2018, 1:47 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ciliopathy
This panel has been subjected to extensive internal and external review.
Mode of inheritance for gene: TMEM216 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: tmem216 has been classified as Amber List (Moderate Evidence).
Gene: tmem216 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: TMEM216 were set to Neonatal and Adult Cholestasis; Meckel syndrome 2 603194
Victorian Clinical Genetics Services was added to TMEM216. Panel: Cholestasis
TMEM216 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
TMEM216 was created by Ellen McDonagh