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  3. P3H1
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BRIDGE_SPEED_NEURO_v2.0_20160416

Gene: P3H1

Red List (low evidence)
P3H1 (prolyl 3-hydroxylase 1)
EnsemblGeneIds (GRCh38): ENSG00000117385
EnsemblGeneIds (GRCh37): ENSG00000117385
OMIM: 610339, Gene2Phenotype
P3H1 is in 5 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Updated gene symbol from LEPRE1 to HGNC approved gene P3H1 (prolyl 3-hydroxylase 1)
Created: 6 Nov 2017, 3:53 p.m.
Created: 6 Nov 2017, 3:53 p.m.

Panel version: 0.9

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

ddg2p_20141118; ddg2p_20141118_conf; ddg2p_201507; ddg2p_201507_conf; UKGTN_v12; neuro_20160418_strict; Loss of function
Created: 7 Feb 2017, 4:34 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteogenesis imperfecta, type VIII, 610915

Variants in this GENE are reported as part of current diagnostic practice

Created: 7 Feb 2017, 4:34 p.m.

Panel version: 0.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
Phenotypes
  • Osteogenesis imperfecta, type VIII, 610915
OMIM
610339
Clinvar variants
Variants in P3H1
Penetrance
Complete
Panels with this gene

History Filter Activity

6 Nov 2017, Gel status: 1

Changed Gene Name

Louise Daugherty (Genomics England Curator)

LEPRE1 was changed to P3H1

6 Nov 2017, Gel status: 1

Removed Source, Added New Source

Louise Daugherty (Genomics England Curator)

Source BRIDGE was removed from LEPRE1. Panel: BRIDGE_SPEED_NEURO_v2.0_20160416 Other was added to LEPRE1. Panel: BRIDGE_SPEED_NEURO_v2.0_20160416

7 Feb 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

LEPRE1* was added to BRIDGE_SPEED_NEURO_v2.0_20160416panel. Sources: BRIDGE

7 Feb 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

LEPRE1* was created by ellenmcdonagh