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Intellectual disability - microarray and sequencing 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability - microarray and sequencing 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) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability - microarray and sequencing v2.468 | PORCN | Louise Daugherty Source Victorian Clinical Genetics Services was added to PORCN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability - microarray and sequencing | PORCN | BRIDGE consortium edited their review of PORCN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability - microarray and sequencing | PORCN | BRIDGE consortium edited their review of PORCN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability - microarray and sequencing | PORCN | BRIDGE consortium reviewed PORCN |