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Intellectual disability syndromic and non-syndromic

Gene: BICD2

Red List (low evidence)

BICD2 (BICD cargo adaptor 2)
EnsemblGeneIds (GRCh38): ENSG00000185963
EnsemblGeneIds (GRCh37): ENSG00000185963
OMIM: 609797, Gene2Phenotype
BICD2 is in 15 panels

2 reviews

Lucy Spencer (Victorian Clinical Genetics Services)

Green List (high evidence)

At least 6 previous reports in the literature, 4 are AD inheritance, most missense/inframe del of 1 AA but one is a stop gain. there are also 2 homozygous patients, 1 missense and 1 stopgain. These individuals also have other phenotypes including brain abnormalities dysmorphic features, seizures and peripheral neuropathy.
Created: 4 Aug 2022, 6:49 a.m. | Last Modified: 4 Aug 2022, 6:49 a.m.
Panel Version: 0.4870

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder (MONDO#0700092), BICD2-related

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Neurological disorder affecting motor function but intellectual disability is not part of the phenotype.
Created: 24 Nov 2019, 2:39 a.m. | Last Modified: 24 Nov 2019, 2:39 a.m.
Panel Version: 0.5

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM#615290

History Filter Activity

6 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bicd2 has been classified as Red List (Low Evidence).

6 Dec 2019, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

6 Dec 2019, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: BICD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

6 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bicd2 has been classified as Red List (Low Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BICD2 was added gene: BICD2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: BICD2 was set to Unknown