Primary ciliary disorders
Gene: LZTFL1Leaving LZTFL1 Amber on this panel for now because only one family to date has been reported with situs inversus / dextrocardia (phenotype associated with motile cilia). It is green on the Rare multisystem ciliopathy disorders which covers non-motile ciliopathies.Created: 21 Dec 2018, 11:33 a.m.
Comment on list classification: Unclear. Further evidence needed of implication of gene in disease and also whether the phenotype is relevant to this panel. Watchlist.Created: 4 Jul 2017, 7:28 a.m.
Two unrelated families with BBS reported to date, one family had situs anomalies. Not clear if this is linked to this gene, or a separate cause. Insufficient evidence for inclusion under situs inversus phenotype at present.Created: 4 Jul 2017, 7:25 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Visceral Heterotaxy; Bardet-Biedl Syndrome 17
Publications
Phenotypes for gene: LZTFL1 were changed from Visceral Heterotaxy; Bardet-Biedl Syndrome 17 to Visceral Heterotaxy; Bardet-Biedl Syndrome 17 Publications for gene: LZTFL1 were updated from 22510444; 23692385 to 22510444; 23692385
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
LZTFL1 was created by helen.brittain
LZTFL1 was added to Primary ciliary disorderspanel. Sources: UKGTN