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  2. Microcephalic Primordial Dwarfism and Slender bone dysplasias

Microcephalic Primordial Dwarfism and Slender bone dysplasias (Version 0.29)

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders

Relevant disorders: Slender long bone, HP:0003100; Microcephalic primordial dwarfism, MONDO:0017950
Panel types: Victorian Clinical Genetics Services, Rare Disease
Description
MOPD and slender bone dysplasias
Panel Activity

5 reviewers

  • Ain Roesley (Victorian Clinical Genetics Services)

  • Chirag Patel (Genetic Health Queensland)

  • Suliman Khan (Victorian Clinical Genetics Services)

  • Karina Sandoval (Victorian Clinical Genetics Services)

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

21 Entities

10 reviewed, 19 green

List Entity Reviews Mode of inheritance Details
21 Entitiess
Green List (high evidence)
ATR
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
CCDC8
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • 3-M syndrome 3, 614205
Tags
Green List (high evidence)
CDKN1C
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • IMAGE syndrome 614732
Tags
Green List (high evidence)
CEP152
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Seckel syndrome 5, MIM# 613823
  • MONDO:0013443
Tags
Green List (high evidence)
CEP295
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Seckel syndrome 11, OMIM # 620767
Tags
Green List (high evidence)
COG4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Saul-Wilson syndrome, OMIM:618150
  • Microcephalic osteodysplastic dysplasia, Saul-Wilson type, MONDO:0019407
Tags
Green List (high evidence)
CRIPT
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Short stature with microcephaly and distinctive facies (MIM#615789)
  • Rothmund-Thomson syndrome MONDO:0010002
Tags
Green List (high evidence)
CUL7
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • 3-M syndrome 1 273750
Tags
Green List (high evidence)
DNA2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Seckel syndrome 8, MIM#615807
Tags
Green List (high evidence)
FAM111A
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Gracile bone dysplasia 602361
  • Kenny-Caffey syndrome, type 2 127000
Tags
Green List (high evidence)
LARP7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Alazami syndrome, MIM# 615071
  • Microcephalic primordial dwarfism, Alazami type MONDO:0014031
Tags
Green List (high evidence)
OBSL1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • 3-M syndrome 2, MIM #612921
Tags
Green List (high evidence)
PCNT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephalic osteodysplastic primordial dwarfism, type II, MIM# 210720
  • MONDO:0008872
Tags
Green List (high evidence)
POLE
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY MIM 618336
Tags
Green List (high evidence)
RBBP8
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
RNU4ATAC
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Roifman syndrome 616651
  • Microcephalic osteodysplastic primordial dwarfism, type I 210710
Tags
Green List (high evidence)
TBCE
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Kenny-Caffey syndrome, type 1 244460.
  • Hypoparathyroidism-retardation-dysmorphism syndrome 241410
  • Kenny-Caffey syndrome, type 1 244460
Tags
Green List (high evidence)
TRAIP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Seckel syndrome 9, MIM# 616777
Tags
Green List (high evidence)
XRCC4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Short stature, microcephaly, and endocrine dysfunction (MIM#616541)
Tags
Amber List (moderate evidence)
PRIM1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, MIM# 620005
Tags
  • deep intronic
  • founder
Red List (low evidence)
CENPE
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephaly 13, primary, autosomal recessive (MIM#616051)
Tags

Downloads

Download lists

  • Whole panel
  • Green list (high evidence)
  • Green and Amber Genes
  • Amber Genes
  • Red list (low evidence)

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