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BRAT1

BRCA1 associated ATM activator 1

HCNC Approved Symbol
BRAT1 (HGNC:21701)
Genomic Coordinates
7:2,537,810 - 2,555,524 (7p22.3)
Synonyms
MGC22916, C7orf27, BAAT1
Disease Associations
This gene is associated with the following 2 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures
618056AR
Rigidity and multifocal seizure syndrome, lethal neonatal
614498AR

Diagnosed Cases

6Patients

In total, 6 patients were diagnosed with a variant in the BRAT1 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Aphasia
 2 (33.3%)
Delayed speech and language development
 2 (33.3%)
Developmental delay
 2 (33.3%)
Difficulty walking
 2 (33.3%)
Dystonia
 2 (33.3%)