Metaphyseal dysplasias (Version 0.5)

Description

Conditions with metaphyseal dysplasia

Panel Activity

2 reviewers

Tiong Tan (Victorian Clinical Genetics Services)
Bryony Thompson (Royal Melbourne Hospital)

12 Entities

2 reviewed, 11 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 12 Entitiess
Green Green List (high evidence)	COL10A1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Metaphyseal chondrodysplasia, Schmid type 156500 Tags
Green Green List (high evidence)	DNAJC21	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 617052 BONE MARROW FAILURE SYNDROME 3 BMFS3 Tags
Green Green List (high evidence)	EFL1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes SDS2 617941 SHWACHMAN-DIAMOND SYNDROME 2 Tags
Green Green List (high evidence)	EXOC6B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spondyloepimetaphyseal dysplasia with joint laxity MONDO:0019675 Tags
Green Green List (high evidence)	MMP13	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Metaphyseal anadysplasia 1 602111 Spondyloepimetaphyseal dysplasia, Missouri type 602111 Metaphyseal dysplasia, Spahr type - 250400 Tags
Green Green List (high evidence)	MMP9	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 613073METAPHYSEAL ANADYSPLASIA 2 Tags
Green Green List (high evidence)	POLR1D	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Treacher Collins syndrome 2 613717 Tags
Green Green List (high evidence)	PTH1R	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Failure of tooth eruption, primary 125350 Eiken syndrome 600002 Chondrodysplasia, Blomstrand type 215045 Metaphyseal chondrodysplasia, Murk Jansen type 156400 Tags
Green Green List (high evidence)	RMRP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Metaphyseal dysplasia without hypotrichosis 250460 Cartilage-hair hypoplasia 250250 Anauxetic dysplasia 607095 Tags
Green Green List (high evidence)	RUNX2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 156510 Cleidocranial dysplasia 119600 Cleidocranial dysplasia, forme fruste, dental anomalies only 119600 Cleidocranial dysplasia, forme fruste, with brachydactyly 119600 Tags
Green Green List (high evidence)	SBDS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Shwachman-Diamond syndrome 260400 Shwachman-Diamond syndrome 260400 Tags
Amber Amber List (moderate evidence)	SRP54	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes SCN8 618752 NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT Tags

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