Genomics England

STAMBP

STAM binding protein

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Clefting Component of the following Super Panels: - Paediatric disorders Signed-off version 7.8	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Microcephaly-capillary malformation syndrome, OMIM:614261
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MICROCEPHALYÐCAPILLARY MALFORMATION (MIC-CAP) SYNDROME
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood Signed-off version 9.56	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Microcephaly-capillary malformation syndrome, OMIM:614261
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Microcephaly-capillary malformation syndrome, OMIM:614261
Green in Intellectual disability Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 11.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Microcephaly-capillary malformation syndrome, OMIM:614261
Green in Severe microcephaly R-numbers: R88 Signed-off version 9.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Microcephaly-capillary malformation syndrome, OMIM:614261
Green in Vascular skin disorders R-numbers: R326 Signed-off version 2.7	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Microcephaly-capillary malformation syndrome, OMIM:614261