Polycystic liver disease
Gene: B9D1
Based on mouse evidenceCreated: 25 Nov 2018, 9:49 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ductal plate malformation
Publications
Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is not enough evidence to rate this gene green. Therefore, this gene has been given an amber rating.Created: 12 Mar 2019, 11:27 a.m.
Comment when marking as ready: There is not enough evidence to promote B9D1 to a green gene on this panel.Created: 26 Nov 2018, 1:31 p.m.
Comment on list classification: Demoted from green to amber after taking into consideration the red review by Bill Griffiths (Cambridge University Hospitals) and other sources of evidence. There is not enough evidence from patient data and B9D1 is a red gene on the Rare cilipathy panel.Created: 26 Nov 2018, 1:30 p.m.
Probable gene for Meckel Syndrome on Gene2Phenotype. There is one family with gene mutation with MS and another family with a large deletion in the gene with MS. There is also evidence from animal models.Created: 12 Nov 2018, 1:55 p.m.
Publications
Phenotypes for gene: B9D1 were changed from Meckel syndrome 9, OMIM:614209; Meckel syndrome 9, MONDO:0013630; Joubert syndrome 27, OMIM:617120; Joubert syndrome 27, MONDO:0014927 to ?Meckel syndrome 9, OMIM:614209; Meckel syndrome 9, MONDO:0013630; Joubert syndrome 27, OMIM:617120; Joubert syndrome 27, MONDO:0014927
Phenotypes for gene: B9D1 were changed from ?Meckel syndrome 9 (614209); Joubert syndrome 27 (617120) to Meckel syndrome 9, OMIM:614209; Meckel syndrome 9, MONDO:0013630; Joubert syndrome 27, OMIM:617120; Joubert syndrome 27, MONDO:0014927
Gene: b9d1 has been classified as Amber List (Moderate Evidence).
gene: B9D1 was added gene: B9D1 was added to Polycystic liver disease interim. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: B9D1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B9D1 were set to 21763481; 21493627 Phenotypes for gene: B9D1 were set to ?Meckel syndrome 9 (614209); Joubert syndrome 27 (617120)