Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders

Gene: OFD1

Green List (high evidence)

OFD1 (OFD1, centriole and centriolar satellite protein)
EnsemblGeneIds (GRCh38): ENSG00000046651
EnsemblGeneIds (GRCh37): ENSG00000046651
OMIM: 300170, Gene2Phenotype
OFD1 is in 31 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Review and Red rating from Kate Tatton-Brown April 2017: Although unequivocally an OMIM morbid gene, I don't think OFD1 would be considered an overgrowth gene
Created: 31 May 2019, 11:17 a.m.

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Confirmed with reviewer.
Created: 29 Mar 2016, 3:48 p.m.
Comment on mode of inheritance: Should this be biallelic in females? (X-linked recessive).
Created: 29 Mar 2016, 1:37 p.m.
Comment on list classification: Richard Scott (North Thames GMC/UCL) therefore promoted to green from red. It is a confirmed DD gene for Simpson-Golabi-Behmel syndrome.
Created: 29 Mar 2016, 1:36 p.m.

History Filter Activity

31 May 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: OFD1 were set to PMID: 23036093

29 Mar 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for OFD1 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females

29 Mar 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for OFD1 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females

29 Mar 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for OFD1 was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

29 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

29 Mar 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

OFD1 was created by ellenmcdonagh

29 Mar 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

OFD1 was added to Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorderspanel. Sources: Radboud University Medical Center, Nijmegen, Expert Review Green