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  3. B4GALNT1
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Cerebral Palsy

Gene: B4GALNT1

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

1 review

Clare van Eyk (University of Adelaide)

I don't know

Additional case with compound heterozygous variants in B4GALNT1, diagnosed with spastic diplegic cerebral palsy with unclear cause (PMID: 38168508).
Created: 26 Jun 2024, 3:36 a.m. | Last Modified: 26 Jun 2024, 3:36 a.m.
Panel Version: 1.315
1 individual reported with homozygous frameshift variant in large-scale CP exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.
Sources: Literature
Created: 28 May 2024, 5:07 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 26, autosomal recessive, MIM#609195

Publications

Created: 28 May 2024, 5:07 a.m.

Panel version: 1.315

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Spastic paraplegia 26, autosomal recessive, MIM#609195
OMIM
601873
Clinvar variants
Variants in B4GALNT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Jun 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: b4galnt1 has been classified as Amber List (Moderate Evidence).

29 May 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: b4galnt1 has been classified as Red List (Low Evidence).

29 May 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: b4galnt1 has been classified as Red List (Low Evidence).

28 May 2024, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Clare van Eyk (University of Adelaide)

gene: B4GALNT1 was added gene: B4GALNT1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: B4GALNT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B4GALNT1 were set to PMID: 38693247 Phenotypes for gene: B4GALNT1 were set to Spastic paraplegia 26, autosomal recessive, MIM#609195 Review for gene: B4GALNT1 was set to RED