Genomics England
GMS Panels
Panels
Genes and Entities

Monogenic short stature (Version: )

Relevant disorders: R453
Signed off date: 7 Aug 2024
Panel types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
See this panel in PanelApp
66 green entities
Entity ratingEntityMode of inheritanceMode of pathogenicityTags
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ACAN
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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ANAPC1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ANKRD11
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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BLM
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BRAF
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
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BRCA2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BRIP1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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CBL
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
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CCDC8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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CDKN1C
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)N/AN/A
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CEP57
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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COG4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
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CUL7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ERCC4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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FANCA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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FANCB
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
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FANCC
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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FANCD2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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FANCE
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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FANCF
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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FANCG
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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FANCI
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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FANCL
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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FGFR3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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GHR
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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HMGA2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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HRAS
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
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IGF1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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IGF1R
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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IGF2
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)N/AN/A
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IGFALS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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INTS1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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KRAS
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
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LZTR1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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MAP2K1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
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MAP2K2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
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MSTO1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AQ1_24_MOI, Q1_24_NHS_review
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MTX2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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NBAS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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NBN
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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NHLRC2
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
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NPR2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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NRAS
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
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OBSL1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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PALB2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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PIK3R1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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PLAG1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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PLK4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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PPP1CB
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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PTPN11
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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RAF1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
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RIT1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
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RNPC3
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
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RRAS2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
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SHOC2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
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SHOX
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/APseudoautosomal region 1
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SLX4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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SOS1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
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SOS2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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SPRED2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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SRCAP
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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STAT5B
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
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TOP3A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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TRIM37
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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UBE2T
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ZFP57
BIALLELIC, autosomal or pseudoautosomalN/AN/A