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Neurodegeneration with brain iron accumulation

Gene: BCAS3

Green List (high evidence)
BCAS3 (BCAS3, microtubule associated cell migration factor)
EnsemblGeneIds (GRCh38): ENSG00000141376
EnsemblGeneIds (GRCh37): ENSG00000141376
OMIM: 607470, Gene2Phenotype
BCAS3 is in 8 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

MRI appearances suggestive of iron deposition.
Created: 15 Mar 2023, 9:48 a.m. | Last Modified: 15 Mar 2023, 9:48 a.m.
Panel Version: 0.19

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hengel-Maroofian-Schols syndrome, MIM# 619641

Publications

Created: 15 Mar 2023, 9:48 a.m.
Last Modified: 15 Mar 2023, 9:48 a.m.
Panel version: 0.19

Shekeeb Mohammad (Children's Hospital at Westmead)

Green List (high evidence)

Sources: Expert Review, Literature
Created: 14 Mar 2023, 3:24 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
spasticity; intellectual disability; global developmental delay; microcephaly; short stature

Publications

  • DOI:10.1002/mds.28915 Corpus ID: 245670502

Variants in this GENE are reported as part of current diagnostic practice

Created: 14 Mar 2023, 3:24 a.m.

Panel version: 0.15

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hengel-Maroofian-Schols syndrome, MIM# 619641
OMIM
607470
Clinvar variants
Variants in BCAS3
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

15 Mar 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bcas3 has been classified as Green List (High Evidence).

15 Mar 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: BCAS3 were changed from spasticity; intellectual disability; global developmental delay; microcephaly; short stature to Hengel-Maroofian-Schols syndrome, MIM# 619641

15 Mar 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: BCAS3 were set to DOI:10.1002/mds.28915 Corpus ID: 245670502

15 Mar 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bcas3 has been classified as Green List (High Evidence).

14 Mar 2023, Gel status: 0

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

Shekeeb Mohammad (Children's Hospital at Westmead)

gene: BCAS3 was added gene: BCAS3 was added to Neuroferritinopathies. Sources: Expert Review,Literature Mode of inheritance for gene: BCAS3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BCAS3 were set to DOI:10.1002/mds.28915 Corpus ID: 245670502 Phenotypes for gene: BCAS3 were set to spasticity; intellectual disability; global developmental delay; microcephaly; short stature Penetrance for gene: BCAS3 were set to unknown Review for gene: BCAS3 was set to GREEN gene: BCAS3 was marked as current diagnostic