Genomics England

solute carrier family 25 member 24

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Gorlin-Chaudhry-Moss syndrome (GCMS), Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Fontaine progeroid syndrome, OMIM, 612289, Fontaine progeroid syndrome, MONDO:0012853
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 7.4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Fontaine progeroid syndrome, OMIM, 612289, Fontaine progeroid syndrome, MONDO:0012853
Green in Rare syndromic craniosynostosis or isolated multisuture synostosis R-numbers: R100 Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Fontaine progeroid syndrome, OMIM, 612289, Fontaine progeroid syndrome, MONDO:0012853
Green in Structural eye disease R-numbers: R36 Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Fontaine progeroid syndrome, OMIM, 612289, Fontaine progeroid syndrome, MONDO:0012853