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Intellectual disability

Gene: B4GALNT1

Green List (high evidence)
B4GALNT1 (beta-1,4-N-acetyl-galactosaminyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000135454
EnsemblGeneIds (GRCh37): ENSG00000135454
OMIM: 601873, Gene2Phenotype
B4GALNT1 is in 9 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least eight variants reported in at least eight unrelated cases.
Created: 8 Feb 2021, 1:14 p.m. | Last Modified: 8 Feb 2021, 1:14 p.m.
Panel Version: 3.764
Created: 8 Feb 2021, 1:14 p.m.
Last Modified: 8 Feb 2021, 1:14 p.m.
Panel version: 3.764

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_omim_20150205_movement;in_movement_disorder_list . Main mutation mechanism : NA
Created: 27 Jul 2017, 5:09 p.m.
Evidences key, gene present in following gene lists and main mutation mechanism : omim_20150205_movement; manju_list; Nijmegen_ID_candidates; GEL_ID_green_20160217; neuro_20160418_strict; NA. 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, 12:04 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

  • omim.org
  • Personal communication with NIHRBRRD BRIDGE SPEED

Created: 2 Aug 2017, 2:52 p.m.

Panel version: 1.354

Caroline Wright (Genomics England Curator)

Comment when marking as ready: GEL A&I decision
Created: 15 Feb 2016, 1:32 p.m.
Created: 15 Feb 2016, 1:32 p.m.

Panel version: 0.304

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spastic paraplegia 26, autosomal recessive OMIM:609195
  • hereditary spastic paraplegia 26 MONDO:0012213
OMIM
601873
Clinvar variants
Variants in B4GALNT1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

8 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: b4galnt1 has been classified as Green List (High Evidence).

8 Feb 2021, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: B4GALNT1 were set to

8 Feb 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: B4GALNT1 were changed from ID; Spastic paraplegia 26, autosomal recessive to Spastic paraplegia 26, autosomal recessive OMIM:609195; hereditary spastic paraplegia 26 MONDO:0012213

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.

17 Feb 2016, Gel status: 4

Added New Source

Richard Scott (Genomics England Curator)

B4GALNT1 was added to Intellectual disabilitypanel. Source: Expert list

15 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

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

15 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

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

15 Feb 2016, Gel status: 0

Approved Gene

Caroline Wright (Genomics England Curator)

This proposed gene was validated and added to this panel

15 Feb 2016, Gel status: 0

Added New Source

Caroline Wright (Sanger)

B4GALNT1 was added to Intellectual disabilitypanel. Sources: Expert Review

15 Feb 2016, Gel status: 0

Created

Caroline Wright (Sanger)

B4GALNT1 was created by Reviewer_06