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  2. Skeletal Dysplasia_Fetal
  3. PAM16
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Skeletal Dysplasia_Fetal

Gene: PAM16

Green List (high evidence)
PAM16 (presequence translocase associated motor 16)
EnsemblGeneIds (GRCh38): ENSG00000217930
EnsemblGeneIds (GRCh37): ENSG00000217930
OMIM: 614336, Gene2Phenotype
PAM16 is in 6 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Severe prenatal short stature, narrow chest, prominent abdomen, and short limbs are reported features.
Sources: Literature, Expert list
Created: 28 Sep 2022, 1:19 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, OMIM # 613320

Publications

Created: 28 Sep 2022, 1:19 a.m.

Panel version: 0.121

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Literature
Phenotypes
  • Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, OMIM # 613320
OMIM
614336
Clinvar variants
Variants in PAM16
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pam16 has been classified as Green List (High Evidence).

5 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pam16 has been classified as Green List (High Evidence).

28 Sep 2022, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Krithika Murali (Victorian Clinical Genetics Services)

gene: PAM16 was added gene: PAM16 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list Mode of inheritance for gene: PAM16 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PAM16 were set to 24786642 Phenotypes for gene: PAM16 were set to Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, OMIM # 613320 Review for gene: PAM16 was set to GREEN