Laterality disorders and isomerism

Gene: RSPH1

Red List (low evidence)

Comment on list classification: Downgraded from Green to Red. Respiratory Specialist Test Group commented that this gene is NOT associated with laterality disorders.

Created: 27 Sep 2019, 7:30 p.m. | Last Modified: 27 Sep 2019, 7:30 p.m.

Panel Version: 0.48

From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSPH4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.

Created: 21 Jan 2019, 4:43 p.m. | Last Modified: 21 Aug 2019, 2:01 p.m.

Panel Version: 0.41

Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: RSPH1; Suggested initial gene rating: Green; Evidence for inclusion: OMIM PCD or Visceral heterotaxy gene; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given

Created: 5 Dec 2018, 12:52 p.m.