Activity

Filter

Panel

Version

Gene or Genomic Entity Name

Date from

Date to

Date	Panel	Item	Activity
Filter activities 6 actions
11 Oct 2018	Intellectual disability v2.510	PORCN	Ellen McDonagh Added comment: Comment on mode of inheritance: For Focal dermal hypoplasia, heterozygous females are affected. Confirmed with the Genomics England Clinical Team prior to revision from biallelic in females.
11 Oct 2018	Intellectual disability v2.510	PORCN	Ellen McDonagh Mode of inheritance for gene: PORCN was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
29 Sep 2018	Intellectual disability v2.468	PORCN	Louise Daugherty Source Victorian Clinical Genetics Services was added to PORCN.
02 Aug 2017	Intellectual disability	PORCN	BRIDGE consortium edited their review of PORCN
27 Jul 2017	Intellectual disability	PORCN	BRIDGE consortium edited their review of PORCN
19 Jul 2017	Intellectual disability	PORCN	BRIDGE consortium reviewed PORCN