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  3. BICD2
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Paediatric motor neuronopathies

Gene: BICD2

Green List (high evidence)
BICD2 (BICD cargo adaptor 2)
EnsemblGeneIds (GRCh38): ENSG00000185963
EnsemblGeneIds (GRCh37): ENSG00000185963
OMIM: 609797, Gene2Phenotype
BICD2 is in 8 panels

3 reviews

Ivone Leong (Genomics England Curator)

Comment on phenotypes: Previous phenotypes:
Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290 -3
Created: 18 Mar 2021, 2:58 p.m. | Last Modified: 18 Mar 2021, 2:58 p.m.
Panel Version: 1.39
Comment on phenotypes: Previous phenotypes:
Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290 -3
Created: 18 Mar 2021, 2:58 p.m. | Last Modified: 18 Mar 2021, 2:58 p.m.
Panel Version: 1.38
Created: 18 Mar 2021, 2:58 p.m.
Last Modified: 18 Mar 2021, 2:58 p.m.
Panel version: 1.38

Pinki Munot (Consultant )

Green List (high evidence)

Can also be associated with Hereditary spastic paraparesis and /or cortical migration disorder
Created: 2 Mar 2017, 3:42 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Lower limb SMA; early onset; distal wasting; brisk or absent reflexes

Created: 2 Mar 2017, 3:45 p.m.

Panel version: 0.89

Alice Gardham (Genomics England)

Mutations reported in at least ten affected families
Created: 26 Jan 2017, 11:19 a.m.
Created: 2 Nov 2016, 1:35 p.m.

Panel version: 0.12

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, OMIM:615290
OMIM
609797
Clinvar variants
Variants in BICD2
Penetrance
Complete
Panels with this gene

History Filter Activity

18 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: BICD2 were changed from Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, OMIM:615290 to Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, OMIM:615290

18 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: BICD2 were changed from Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290 -3 to Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, OMIM:615290

7 Mar 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Gene panel promoted to v1 on 7 March 2017 following external review and internal curation

26 Jan 2017, Gel status: 4

Set Mode of Inheritance

Alice Gardham (Genomics England)

Mode of inheritance for BICD2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

26 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

3 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

2 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

8 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

BICD2 was added to Paediatric motor neuronopathiespanel. Sources: Expert

30 Apr 2015, Gel status: 1

Added New Source

Antonio Rueda (GEL)

BICD2 was added to Paediatric motor neuronopathiespanel. Sources: Radboud University Medical Center, Nijmegen