Cytopenias and congenital anaemias
Gene: PEX11B
PEX11B (peroxisomal biogenesis factor 11 beta)
EnsemblGeneIds (GRCh38): ENSG00000131779
EnsemblGeneIds (GRCh37): ENSG00000131779
OMIM: 603867, Gene2Phenotype
PEX11B is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000131779
EnsemblGeneIds (GRCh37): ENSG00000131779
OMIM: 603867, Gene2Phenotype
PEX11B is in 16 panels
2 reviews
Olivia Niblock (Genomics England Curator)
Linked to ?Peroxisome biogenesis disorder 14B in OMIM. No results on Gene2Phenotype. Unable to find literature linking variants in gene to TAR syndrome, anaemia or pytopenia. Within the deleted region in TAR syndrome.Created: 9 Mar 2017, 4:32 p.m.
Phenotypes
Thrombocytopenia Absent-Radius Syndrome
Ellen McDonagh (Genomics England Curator)
The UKGTN gene dossier explains that a 200kb deletion at 1q21.1 encompassing the genes; HFE2, TXNIP, PLOR3GL, ANKRD34A, LIX1L, RBM8A, GNRHR2, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT1, is tested for diagnosis of Thrombocytopenia Absent-Radius Syndrome. "PLOR3GL" is likely to be POLR3GL, the correct spelling for this gene in this region.Created: 25 Jun 2015, 10:59 a.m.
Details
- Sources
-
- Expert Review Red
- UKGTN
- Phenotypes
-
- Thrombocytopenia Absent-Radius Syndrome
- Tags
- OMIM
- 603867
- Clinvar variants
- Variants in PEX11B
- Penetrance
- Complete
- Panels with this gene
-
- Likely inborn error of metabolism
- Peroxisomal disorders
- DDG2P
- Cytopenias and congenital anaemias
- Adult onset leukodystrophy
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Fetal anomalies
- Fetal hydrops
- Bilateral congenital or childhood onset cataracts
- Malformations of cortical development
- Arthrogryposis
- Ductal plate malformation
- Intellectual disability
- Neonatal cholestasis
- Structural eye disease
History Filter Activity
11 Mar 2017, Gel status: 1
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
9 Mar 2017, Gel status: 1
Added New Source
Sarah Leigh (Genomics England Curator)PEX11B was added to Cytopaenias and congenital anaemiaspanel. Source: Expert Review Red
17 Feb 2017, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)PEX11B was added to Cytopaenias and congenital anaemiaspanel. Sources: UKGTN
17 Feb 2017, Gel status: 0
Created
Louise Daugherty (Genomics England Curator)PEX11B was created by LouiseD