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Intellectual disability

Gene: CYP2U1

Green List (high evidence)

CYP2U1 (cytochrome P450 family 2 subfamily U member 1)
EnsemblGeneIds (GRCh38): ENSG00000155016
EnsemblGeneIds (GRCh37): ENSG00000155016
OMIM: 610670, Gene2Phenotype
CYP2U1 is in 14 panels

6 reviews

Eleanor Williams (Genomics England Curator)

I don't know

Comment on list classification: Leaving this gene as green for now, but after consultation with the Genomics England clinical team it was felt that it should be considered for downgrade to amber at the next GMS review. It is a spastic paraplegia gene and seems to mainly present in that manner. Amber rating would be appropriate as cognitive impairment is a feature and new cases may emerge which support that as a primary presentation.
Created: 29 Sep 2020, 10:58 a.m. | Last Modified: 29 Sep 2020, 10:58 a.m.
Panel Version: 3.360
Associated with Spastic paraplegia 56, autosomal recessive #615030 in OMIM.

PMID: 23176821 - Tesson et al 2012 - report subjects from five different families with autosomal-recessive Hereditary spastic paraplegia, with five mutations in CYP2U1 (missense and deletion leading to a frameshift) identified. The families were from a variety of ethnic backgrounds. The SPG48 phenotype was early onset (birth to 8 years, average 2.5 years) spastic paraplegia frequently involving the upper limbs (7/11 cases). Cognitive delay was observed in 3/11 subjects, all who developed first symptoms before 18 months. Hereditary spastic paraplegia (HSP), is recognized as an inherited neurodegenerative disorders.
Created: 24 Sep 2020, 1:50 p.m. | Last Modified: 24 Sep 2020, 1:50 p.m.
Panel Version: 3.335

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 56, autosomal recessive, 615030

Publications

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Gene-disease association well established but this is a neurodegenerative condition rather than truly ID.
Created: 1 Feb 2020, 7:41 a.m. | Last Modified: 1 Feb 2020, 7:41 a.m.
Panel Version: 3.0

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 56, autosomal recessive, MIM#615030

Caroline Wright (Sanger)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
HEREDITARY SPASTIC PARAPLEGIA

Publications

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf;in_omim_20150205_movement;in_movement_disorder_list . Main mutation mechanism : Loss of function
Created: 27 Jul 2017, 5:29 p.m.
Evidences key, gene present in following gene lists and main mutation mechanism : ddg2p_20141118; ddg2p_20141118_conf; ddg2p_201507; ddg2p_201507_conf; omim_20150205_movement; manju_list; Nijmegen_ID_candidates; GEL_ID_green_20160217; neuro_20160418_strict; Loss of function. This is a pertinent gene from the BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene comes from the SPEED_NEURO_v3.0_20170404 gene list. The following experts from the BRIDGE consortium NIHRBR-RD contributed to this panel: - Professor F. Lucy Raymond, Cambridge Institute for Medical Research, University of Cambridge - Manju Kurian, Paediatric neurologist, Great Ormond Street Hosptial - Keren Carss, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Alba Sanchis-Juan, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Marie Erwood NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Louise Daugherty, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust
Created: 19 Jul 2017, 12:16 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

  • 25529582
  • omim.org
  • Personal communication with NIHRBRRD BRIDGE SPEED

Lu Raymond (university of cambridge )

I don't know

Richard Scott (Genomics England Curator)

Comment on list classification: Confirmed DD gene; ID in 4 reported cases
Created: 7 Feb 2016, 6:35 a.m.

History Filter Activity

29 Sep 2020, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag for-review tag was added to gene: CYP2U1.

29 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: cyp2u1 has been classified as Green List (High Evidence).

12 Mar 2018, Gel status: 3

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

7 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

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

7 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

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

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CYP2U1 was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CYP2U1 was added to Intellectual disabilitypanel. Sources: Expert Review Amber