BabyScreen+ newborn screening

Gene: TMEM67

Red List (low evidence)

Multiple AR phenotypes ciliopathy spectrum :
COACH - cerebellar vermis hypo/aplasia, oligophrenia, ataxia, ocular coloboma, and hepatic fibrosis (overlap with Joubert but significant liver involvement
Joubert -psychomotor delay, hypotonia, ataxia, oculomotor apraxia, and neonatal breathing abnormalities. Cerebellar abnormalities (molar tooth sign)
Meckel - pre- or perinatal lethal malformation syndrome characterized by renal cystic dysplasia and variably associated features including developmental anomalies of the central nervous system (typically occipital encephalocele), hepatic ductal dysplasia and cysts, and postaxial polydactyly
Nephronophthisis - renal interstitial infiltration with fibrosis, tubular atrophy with basement membrane disruption, and cyst development at the corticomedullary border. Hepatic fibrosis is also present. The clinical presentation includes polyuria, polydipsia, anemia, and growth retardation. End-stage renal disease develops in the first or second decade of life

Congenital
no treatment

Created: 17 Dec 2022, 3:36 a.m. | Last Modified: 17 Dec 2022, 3:36 a.m.

Panel Version: 0.1498

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
COACH syndrome MIM#216360; Joubert syndrome MIM#10688; Meckel syndrome MIM#607361; Nephronophthisis MIM#613550

Publications

• PMID: 20232449 PMID: 26092869, PMID: 27336129