Genomics England
GMS Panels
Panels
Genes and Entities

SREBF1

sterol regulatory element binding transcription factor 1
OMIM: 184756
PanelMode of inheritanceDetails
3 panels
Green
in Bilateral congenital or childhood onset cataracts
R-numbers: R31
Signed-off version 6.6
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mucoepithelial dysplasia, hereditary, OMIM:158310, MONDO:0008017
Green
in Ectodermal dysplasia
R-numbers: R163
Signed-off version 3.35
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ichthyosis, follicular, with atrichia and photophobia syndrome 2, MIM# 619016, MONDO:0100221, Mucoepithelial dysplasia, hereditary, MIM# 158310, MONDO:0008017
Green
in Ichthyosis and erythrokeratoderma
R-numbers: R165
Signed-off version 3.30
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ichthyosis, follicular, with atrichia and photophobia syndrome 2, MIM# 619016, MONDO:0100221, Hereditary mucoepithelial dysplasia, MIM# 158310, MONDO:0008017