PLEKHM1

pleckstrin homology and RUN domain containing M1
OMIM: 611466, ClinGen, DECIPHER

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green PLEKHM1 in Macrocephaly_Megalencephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.149	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green PLEKHM1 in Mendeliome Version 1.2302	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteopetrosis, autosomal dominant 3, MIM# 618107 Osteopetrosis, autosomal recessive 6 , MIM# 611497
Green PLEKHM1 in Osteopetrosis Level 2: Skeletal disorders Version 0.34	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Osteopetrosis, autosomal dominant 3, MIM# 618107 Osteopetrosis, autosomal recessive 6 , MIM# 611497
Green PLEKHM1 in Defects of intrinsic and innate immunity Level 2: Immunological disorders Version 1.19 Component of the following Super Panels: Immunological disorders_SuperPanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Osteopetrosis, autosomal recessive 6 MIM#611497
Red PLEKHM1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.302	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red UKGTN Radboud University Medical Center, Nijmegen NHS GMS Expert list Victorian Clinical Genetics Services Phenotypes Osteopetrosis, autosomal recessive 6 - 611497 Osteopetrosis, autosomal recessive 6 611497 Osteopetrosis, autosomal dominant 3 - 618107
Red PLEKHM1 in Fetal anomalies Version 1.313	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Osteopetrosis, autosomal recessive 6 - MIM#611497 Osteopetrosis, autosomal dominant 3 - MIM#618107